Amanda B Spurdle

Amanda B Spurdle

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Amanda B Spurdle

Publications by authors named "Amanda B Spurdle"

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Genome-Wide Association Studies of Endometrial Cancer: Latest Developments and Future Directions.

Cancer Epidemiol Biomarkers Prev 2019 Jul 30;28(7):1095-1102. Epub 2019 Apr 30.

Molecular Cancer Epidemiology Group, Genetics and Computational Biology Department, QIMR Berghofer Medical Research Institute, Brisbane, Australia.

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http://dx.doi.org/10.1158/1055-9965.EPI-18-1031DOI Listing
July 2019

A quantitative model to predict pathogenicity of missense variants in the TP53 gene.

Hum Mutat 2019 Jun 18;40(6):788-800. Epub 2019 Mar 18.

Sir Peter MacCallum Department of Oncology, University of Melbourne, Melbourne, Victoria, Australia.

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http://dx.doi.org/10.1002/humu.23739DOI Listing
June 2019

Germline pathogenic variants in 7,636 Japanese patients with prostate cancer and 12,366 controls.

J Natl Cancer Inst 2019 Jun 19. Epub 2019 Jun 19.

RIKEN Center for Integrative Medical Sciences, 1-7-22 Suehiro-cho, Tsurumi-ku, Yokohama City, Kanagawa 230-0045, Japan.

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http://dx.doi.org/10.1093/jnci/djz124DOI Listing
June 2019

p53 major hotspot variants are associated with poorer prognostic features in hereditary cancer patients.

Cancer Genet 2019 Jun 6;235-236:21-27. Epub 2019 Jun 6.

Genetics and Computational Biology Division, QIMR Berghofer Medical Research Institute, 300 Herston Rd, Herston QLD 4006, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.cancergen.2019.05.002DOI Listing
June 2019

Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification.

Authors:
Michael T Parsons Emma Tudini Hongyan Li Eric Hahnen Barbara Wappenschmidt Lidia Feliubadaló Cora M Aalfs Simona Agata Kristiina Aittomäki Elisa Alducci María Concepción Alonso-Cerezo Norbert Arnold Bernd Auber Rachel Austin Jacopo Azzollini Judith Balmaña Elena Barbieri Claus R Bartram Ana Blanco Britta Blümcke Sandra Bonache Bernardo Bonanni Åke Borg Beatrice Bortesi Joan Brunet Carla Bruzzone Karolin Bucksch Giulia Cagnoli Trinidad Caldés Almuth Caliebe Maria A Caligo Mariarosaria Calvello Gabriele L Capone Sandrine M Caputo Ileana Carnevali Estela Carrasco Virginie Caux-Moncoutier Pietro Cavalli Giulia Cini Edward M Clarke Paola Concolino Elisa J Cops Laura Cortesi Fergus J Couch Esther Darder Miguel de la Hoya Michael Dean Irmgard Debatin Jesús Del Valle Capucine Delnatte Nicolas Derive Orland Diez Nina Ditsch Susan M Domchek Véronique Dutrannoy Diana M Eccles Hans Ehrencrona Ute Enders D Gareth Evans Ulrike Faust Ute Felbor Irene Feroce Miriam Fine Henrique C R Galvao Gaetana Gambino Andrea Gehrig Francesca Gensini Anne-Marie Gerdes Aldo Germani Jutta Giesecke Viviana Gismondi Carolina Gómez Encarna B Gómez Garcia Sara González Elia Grau Sabine Grill Eva Gross Aliana Guerrieri-Gonzaga Marine Guillaud-Bataille Sara Gutiérrez-Enríquez Thomas Haaf Karl Hackmann Thomas V O Hansen Marion Harris Jan Hauke Tilman Heinrich Heide Hellebrand Karen N Herold Ellen Honisch Judit Horvath Claude Houdayer Verena Hübbel Silvia Iglesias Angel Izquierdo Paul A James Linda A M Janssen Udo Jeschke Silke Kaulfuß Katharina Keupp Marion Kiechle Alexandra Kölbl Sophie Krieger Torben A Kruse Anders Kvist Fiona Lalloo Mirjam Larsen Vanessa L Lattimore Charlotte Lautrup Susanne Ledig Elena Leinert Alexandra L Lewis Joanna Lim Markus Loeffler Adrià López-Fernández Emanuela Lucci-Cordisco Nicolai Maass Siranoush Manoukian Monica Marabelli Laura Matricardi Alfons Meindl Rodrigo D Michelli Setareh Moghadasi Alejandro Moles-Fernández Marco Montagna Gemma Montalban Alvaro N Monteiro Eva Montes Luigi Mori Lidia Moserle Clemens R Müller Christoph Mundhenke Nadia Naldi Katherine L Nathanson Matilde Navarro Heli Nevanlinna Cassandra B Nichols Dieter Niederacher Henriette R Nielsen Kai-Ren Ong Nicholas Pachter Edenir I Palmero Laura Papi Inge Sokilde Pedersen Bernard Peissel Pedro Pérez-Segura Katharina Pfeifer Marta Pineda Esther Pohl-Rescigno Nicola K Poplawski Berardino Porfirio Anne S Quante Juliane Ramser Rui M Reis Françoise Revillion Kerstin Rhiem Barbara Riboli Julia Ritter Daniela Rivera Paula Rofes Andreas Rump Monica Salinas Ana María Sánchez de Abajo Gunnar Schmidt Ulrike Schoenwiese Jochen Seggewiß Ares Solanes Doris Steinemann Mathias Stiller Dominique Stoppa-Lyonnet Kelly J Sullivan Rachel Susman Christian Sutter Sean V Tavtigian Soo H Teo Alex Teulé Mads Thomassen Maria Grazia Tibiletti Silvia Tognazzo Amanda E Toland Eva Tornero Therese Törngren Sara Torres-Esquius Angela Toss Alison H Trainer Christi J van Asperen Marion T van Mackelenbergh Liliana Varesco Gardenia Vargas-Parra Raymonda Varon Ana Vega Ángela Velasco Anne-Sophie Vesper Alessandra Viel Maaike P G Vreeswijk Sebastian A Wagner Anke Waha Logan C Walker Rhiannon J Walters Shan Wang-Gohrke Bernhard H F Weber Wilko Weichert Kerstin Wieland Lisa Wiesmüller Isabell Witzel Achim Wöckel Emma R Woodward Silke Zachariae Valentina Zampiga Christine Zeder-Göß Conxi Lázaro Arcangela De Nicolo Paolo Radice Christoph Engel Rita K Schmutzler David E Goldgar Amanda B Spurdle

Hum Mutat 2019 May 27. Epub 2019 May 27.

Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.

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http://dx.doi.org/10.1002/humu.23818DOI Listing
May 2019

Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer.

Authors:
Manuel A Ferreira Eric R Gamazon Fares Al-Ejeh Kristiina Aittomäki Irene L Andrulis Hoda Anton-Culver Adalgeir Arason Volker Arndt Kristan J Aronson Banu K Arun Ella Asseryanis Jacopo Azzollini Judith Balmaña Daniel R Barnes Daniel Barrowdale Matthias W Beckmann Sabine Behrens Javier Benitez Marina Bermisheva Katarzyna Białkowska Carl Blomqvist Natalia V Bogdanova Stig E Bojesen Manjeet K Bolla Ake Borg Hiltrud Brauch Hermann Brenner Annegien Broeks Barbara Burwinkel Trinidad Caldés Maria A Caligo Daniele Campa Ian Campbell Federico Canzian Jonathan Carter Brian D Carter Jose E Castelao Jenny Chang-Claude Stephen J Chanock Hans Christiansen Wendy K Chung Kathleen B M Claes Christine L Clarke Fergus J Couch Angela Cox Simon S Cross Kamila Czene Mary B Daly Miguel de la Hoya Joe Dennis Peter Devilee Orland Diez Thilo Dörk Alison M Dunning Miriam Dwek Diana M Eccles Bent Ejlertsen Carolina Ellberg Christoph Engel Mikael Eriksson Peter A Fasching Olivia Fletcher Henrik Flyger Eitan Friedman Debra Frost Marike Gabrielson Manuela Gago-Dominguez Patricia A Ganz Susan M Gapstur Judy Garber Montserrat García-Closas José A García-Sáenz Mia M Gaudet Graham G Giles Gord Glendon Andrew K Godwin Mark S Goldberg David E Goldgar Anna González-Neira Mark H Greene Jacek Gronwald Pascal Guénel Christopher A Haiman Per Hall Ute Hamann Wei He Jane Heyworth Frans B L Hogervorst Antoinette Hollestelle Robert N Hoover John L Hopper Peter J Hulick Keith Humphreys Evgeny N Imyanitov Claudine Isaacs Milena Jakimovska Anna Jakubowska Paul A James Ramunas Janavicius Rachel C Jankowitz Esther M John Nichola Johnson Vijai Joseph Beth Y Karlan Elza Khusnutdinova Johanna I Kiiski Yon-Dschun Ko Michael E Jones Irene Konstantopoulou Vessela N Kristensen Yael Laitman Diether Lambrechts Conxi Lazaro Goska Leslie Jenny Lester Fabienne Lesueur Sara Lindström Jirong Long Jennifer T Loud Jan Lubiński Enes Makalic Arto Mannermaa Mehdi Manoochehri Sara Margolin Tabea Maurer Dimitrios Mavroudis Lesley McGuffog Alfons Meindl Usha Menon Kyriaki Michailidou Austin Miller Marco Montagna Fernando Moreno Lidia Moserle Anna Marie Mulligan Katherine L Nathanson Susan L Neuhausen Heli Nevanlinna Ines Nevelsteen Finn C Nielsen Liene Nikitina-Zake Robert L Nussbaum Kenneth Offit Edith Olah Olufunmilayo I Olopade Håkan Olsson Ana Osorio Janos Papp Tjoung-Won Park-Simon Michael T Parsons Inge Sokilde Pedersen Ana Peixoto Paolo Peterlongo Paul D P Pharoah Dijana Plaseska-Karanfilska Bruce Poppe Nadege Presneau Paolo Radice Johanna Rantala Gad Rennert Harvey A Risch Emmanouil Saloustros Kristin Sanden Elinor J Sawyer Marjanka K Schmidt Rita K Schmutzler Priyanka Sharma Xiao-Ou Shu Jacques Simard Christian F Singer Penny Soucy Melissa C Southey John J Spinelli Amanda B Spurdle Jennifer Stone Anthony J Swerdlow William J Tapper Jack A Taylor Manuel R Teixeira Mary Beth Terry Alex Teulé Mads Thomassen Kathrin Thöne Darcy L Thull Marc Tischkowitz Amanda E Toland Diana Torres Thérèse Truong Nadine Tung Celine M Vachon Christi J van Asperen Ans M W van den Ouweland Elizabeth J van Rensburg Ana Vega Alessandra Viel Qin Wang Barbara Wappenschmidt Jeffrey N Weitzel Camilla Wendt Robert Winqvist Xiaohong R Yang Drakoulis Yannoukakos Argyrios Ziogas Peter Kraft Antonis C Antoniou Wei Zheng Douglas F Easton Roger L Milne Jonathan Beesley Georgia Chenevix-Trench

Nat Commun 2019 04 15;10(1):1741. Epub 2019 Apr 15.

Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, QLD, 4006, Australia.

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http://dx.doi.org/10.1038/s41467-018-08053-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6465407PMC
April 2019

Assessing the Role of Selenium in Endometrial Cancer Risk: A Mendelian Randomization Study.

Front Oncol 2019 27;9:182. Epub 2019 Mar 27.

Molecular Cancer Epidemiology Group, Genetics and Computational Biology Department, QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.

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http://dx.doi.org/10.3389/fonc.2019.00182DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6445879PMC
March 2019

Quantifying and mRNA Isoform Expression Levels in Single Cells.

Int J Mol Sci 2019 Feb 6;20(3). Epub 2019 Feb 6.

Department of Pathology and Biomedical Science, University of Otago, Christchurch 8011, New Zealand.

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http://dx.doi.org/10.3390/ijms20030693DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6387195PMC
February 2019

Shared heritability and functional enrichment across six solid cancers.

Authors:
Xia Jiang Hilary K Finucane Fredrick R Schumacher Stephanie L Schmit Jonathan P Tyrer Younghun Han Kyriaki Michailidou Corina Lesseur Karoline B Kuchenbaecker Joe Dennis David V Conti Graham Casey Mia M Gaudet Jeroen R Huyghe Demetrius Albanes Melinda C Aldrich Angeline S Andrew Irene L Andrulis Hoda Anton-Culver Antonis C Antoniou Natalia N Antonenkova Susanne M Arnold Kristan J Aronson Banu K Arun Elisa V Bandera Rosa B Barkardottir Daniel R Barnes Jyotsna Batra Matthias W Beckmann Javier Benitez Sara Benlloch Andrew Berchuck Sonja I Berndt Heike Bickeböller Stephanie A Bien Carl Blomqvist Stefania Boccia Natalia V Bogdanova Stig E Bojesen Manjeet K Bolla Hiltrud Brauch Hermann Brenner James D Brenton Mark N Brook Joan Brunet Hans Brunnström Daniel D Buchanan Barbara Burwinkel Ralf Butzow Gabriella Cadoni Trinidad Caldés Maria A Caligo Ian Campbell Peter T Campbell Géraldine Cancel-Tassin Lisa Cannon-Albright Daniele Campa Neil Caporaso André L Carvalho Andrew T Chan Jenny Chang-Claude Stephen J Chanock Chu Chen David C Christiani Kathleen B M Claes Frank Claessens Judith Clements J Margriet Collée Marcia Cruz Correa Fergus J Couch Angela Cox Julie M Cunningham Cezary Cybulski Kamila Czene Mary B Daly Anna deFazio Peter Devilee Orland Diez Manuela Gago-Dominguez Jenny L Donovan Thilo Dörk Eric J Duell Alison M Dunning Miriam Dwek Diana M Eccles Christopher K Edlund Digna R Velez Edwards Carolina Ellberg D Gareth Evans Peter A Fasching Robert L Ferris Triantafillos Liloglou Jane C Figueiredo Olivia Fletcher Renée T Fortner Florentia Fostira Silvia Franceschi Eitan Friedman Steven J Gallinger Patricia A Ganz Judy Garber José A García-Sáenz Simon A Gayther Graham G Giles Andrew K Godwin Mark S Goldberg David E Goldgar Ellen L Goode Marc T Goodman Gary Goodman Kjell Grankvist Mark H Greene Henrik Gronberg Jacek Gronwald Pascal Guénel Niclas Håkansson Per Hall Ute Hamann Freddie C Hamdy Robert J Hamilton Jochen Hampe Aage Haugen Florian Heitz Rolando Herrero Peter Hillemanns Michael Hoffmeister Estrid Høgdall Yun-Chul Hong John L Hopper Richard Houlston Peter J Hulick David J Hunter David G Huntsman Gregory Idos Evgeny N Imyanitov Sue Ann Ingles Claudine Isaacs Anna Jakubowska Paul James Mark A Jenkins Mattias Johansson Mikael Johansson Esther M John Amit D Joshi Radka Kaneva Beth Y Karlan Linda E Kelemen Tabea Kühl Kay-Tee Khaw Elza Khusnutdinova Adam S Kibel Lambertus A Kiemeney Jeri Kim Susanne K Kjaer Julia A Knight Manolis Kogevinas Zsofia Kote-Jarai Stella Koutros Vessela N Kristensen Jolanta Kupryjanczyk Martin Lacko Stephan Lam Diether Lambrechts Maria Teresa Landi Philip Lazarus Nhu D Le Eunjung Lee Flavio Lejbkowicz Heinz-Josef Lenz Goska Leslie Davor Lessel Jenny Lester Douglas A Levine Li Li Christopher I Li Annika Lindblom Noralane M Lindor Geoffrey Liu Fotios Loupakis Jan Lubiński Lovise Maehle Christiane Maier Arto Mannermaa Loic Le Marchand Sara Margolin Taymaa May Lesley McGuffog Alfons Meindl Pooja Middha Austin Miller Roger L Milne Robert J MacInnis Francesmary Modugno Marco Montagna Victor Moreno Kirsten B Moysich Lorelei Mucci Kenneth Muir Anna Marie Mulligan Katherine L Nathanson David E Neal Andrew R Ness Susan L Neuhausen Heli Nevanlinna Polly A Newcomb Lisa F Newcomb Finn Cilius Nielsen Liene Nikitina-Zake Børge G Nordestgaard Robert L Nussbaum Kenneth Offit Edith Olah Ali Amin Al Olama Olufunmilayo I Olopade Andrew F Olshan Håkan Olsson Ana Osorio Hardev Pandha Jong Y Park Nora Pashayan Michael T Parsons Tanja Pejovic Kathryn L Penney Wilbert H M Peters Catherine M Phelan Amanda I Phipps Dijana Plaseska-Karanfilska Miranda Pring Darya Prokofyeva Paolo Radice Kari Stefansson Susan J Ramus Leon Raskin Gad Rennert Hedy S Rennert Elizabeth J van Rensburg Marjorie J Riggan Harvey A Risch Angela Risch Monique J Roobol Barry S Rosenstein Mary Anne Rossing Kim De Ruyck Emmanouil Saloustros Dale P Sandler Elinor J Sawyer Matthew B Schabath Johanna Schleutker Marjanka K Schmidt V Wendy Setiawan Hongbing Shen Erin M Siegel Weiva Sieh Christian F Singer Martha L Slattery Karina Dalsgaard Sorensen Melissa C Southey Amanda B Spurdle Janet L Stanford Victoria L Stevens Sebastian Stintzing Jennifer Stone Karin Sundfeldt Rebecca Sutphen Anthony J Swerdlow Eloiza H Tajara Catherine M Tangen Adonina Tardon Jack A Taylor M Dawn Teare Manuel R Teixeira Mary Beth Terry Kathryn L Terry Stephen N Thibodeau Mads Thomassen Line Bjørge Marc Tischkowitz Amanda E Toland Diana Torres Paul A Townsend Ruth C Travis Nadine Tung Shelley S Tworoger Cornelia M Ulrich Nawaid Usmani Celine M Vachon Els Van Nieuwenhuysen Ana Vega Miguel Elías Aguado-Barrera Qin Wang Penelope M Webb Clarice R Weinberg Stephanie Weinstein Mark C Weissler Jeffrey N Weitzel Catharine M L West Emily White Alice S Whittemore H-Erich Wichmann Fredrik Wiklund Robert Winqvist Alicja Wolk Penella Woll Michael Woods Anna H Wu Xifeng Wu Drakoulis Yannoukakos Wei Zheng Shanbeh Zienolddiny Argyrios Ziogas Kristin K Zorn Jacqueline M Lane Richa Saxena Duncan Thomas Rayjean J Hung Brenda Diergaarde James McKay Ulrike Peters Li Hsu Montserrat García-Closas Rosalind A Eeles Georgia Chenevix-Trench Paul J Brennan Christopher A Haiman Jacques Simard Douglas F Easton Stephen B Gruber Paul D P Pharoah Alkes L Price Bogdan Pasaniuc Christopher I Amos Peter Kraft Sara Lindström

Nat Commun 2019 01 25;10(1):431. Epub 2019 Jan 25.

Public Health Sciences Division, Fred Hutchinson Cancer Research Center, 1100 Fairview Ave. N., Seattle, WA, 98109-1024, USA.

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http://dx.doi.org/10.1038/s41467-018-08054-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6347624PMC
January 2019

GFP-Fragment Reassembly Screens for the Functional Characterization of Variants of Uncertain Significance in Protein Interaction Domains of the BRCA1 and BRCA2 Genes.

Cancers (Basel) 2019 Jan 28;11(2). Epub 2019 Jan 28.

Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Research, Fondazione IRCCS Istituto Nazionale dei Tumori, 20133 Milan, Italy.

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http://dx.doi.org/10.3390/cancers11020151DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6406614PMC
January 2019

Current review of TP53 pathogenic germline variants in breast cancer patients outside Li-Fraumeni syndrome.

Hum Mutat 2018 Dec 3;39(12):1764-1773. Epub 2018 Oct 3.

QIMR Berghofer Medical Research Institute, Herston, Brisbane, Australia.

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http://doi.wiley.com/10.1002/humu.23656
Publisher Site
http://dx.doi.org/10.1002/humu.23656DOI Listing
December 2018

Risk and prognostic factors for endometrial carcinoma after diagnosis of breast or Lynch-associated cancers-A population-based analysis.

Cancer Med 2018 Dec 28;7(12):6411-6422. Epub 2018 Nov 28.

Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.

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http://dx.doi.org/10.1002/cam4.1890DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6308118PMC
December 2018

Substantial evidence for the clinical significance of missense variant BRCA1 c.5309G>T p.(Gly1770Val).

Breast Cancer Res Treat 2018 Nov 13;172(2):497-503. Epub 2018 Aug 13.

Molecular Diagnostic Unit, Hereditary Cancer and Ocobell Programs, IDIBELL, Catalan Institute of Oncology, Barcelona, Spain.

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http://dx.doi.org/10.1007/s10549-018-4903-yDOI Listing
November 2018

A Transcriptome-Wide Association Study Among 97,898 Women to Identify Candidate Susceptibility Genes for Epithelial Ovarian Cancer Risk.

Authors:
Yingchang Lu Alicia Beeghly-Fadiel Lang Wu Xingyi Guo Bingshan Li Joellen M Schildkraut Hae Kyung Im Yian A Chen Jennifer B Permuth Brett M Reid Jamie K Teer Kirsten B Moysich Irene L Andrulis Hoda Anton-Culver Banu K Arun Elisa V Bandera Rosa B Barkardottir Daniel R Barnes Javier Benitez Line Bjorge James Brenton Ralf Butzow Trinidad Caldes Maria A Caligo Ian Campbell Jenny Chang-Claude Kathleen B M Claes Fergus J Couch Daniel W Cramer Mary B Daly Anna deFazio Joe Dennis Orland Diez Susan M Domchek Thilo Dörk Douglas F Easton Diana M Eccles Peter A Fasching Renée T Fortner George Fountzilas Eitan Friedman Patricia A Ganz Judy Garber Graham G Giles Andrew K Godwin David E Goldgar Marc T Goodman Mark H Greene Jacek Gronwald Ute Hamann Florian Heitz Michelle A T Hildebrandt Claus K Høgdall Antoinette Hollestelle Peter J Hulick David G Huntsman Evgeny N Imyanitov Claudine Isaacs Anna Jakubowska Paul James Beth Y Karlan Linda E Kelemen Lambertus A Kiemeney Susanne K Kjaer Ava Kwong Nhu D Le Goska Leslie Fabienne Lesueur Douglas A Levine Amalia Mattiello Taymaa May Lesley McGuffog Iain A McNeish Melissa A Merritt Francesmary Modugno Marco Montagna Susan L Neuhausen Heli Nevanlinna Finn C Nielsen Liene Nikitina-Zake Robert L Nussbaum Kenneth Offit Edith Olah Olufunmilayo I Olopade Sara H Olson Håkan Olsson Ana Osorio Sue K Park Michael T Parsons Petra H M Peeters Tanja Pejovic Paolo Peterlongo Catherine M Phelan Miquel Angel Pujana Susan J Ramus Gad Rennert Harvey Risch Gustavo C Rodriguez Cristina Rodríguez-Antona Isabelle Romieu Matti A Rookus Mary Anne Rossing Iwona K Rzepecka Dale P Sandler Rita K Schmutzler Veronica W Setiawan Priyanka Sharma Weiva Sieh Jacques Simard Christian F Singer Honglin Song Melissa C Southey Amanda B Spurdle Rebecca Sutphen Anthony J Swerdlow Manuel R Teixeira Soo H Teo Mads Thomassen Marc Tischkowitz Amanda E Toland Antonia Trichopoulou Nadine Tung Shelley S Tworoger Elizabeth J van Rensburg Adriaan Vanderstichele Ana Vega Digna Velez Edwards Penelope M Webb Jeffrey N Weitzel Nicolas Wentzensen Emily White Alicja Wolk Anna H Wu Drakoulis Yannoukakos Kristin K Zorn Simon A Gayther Antonis C Antoniou Andrew Berchuck Ellen L Goode Georgia Chenevix-Trench Thomas A Sellers Paul D P Pharoah Wei Zheng Jirong Long

Cancer Res 2018 Sep 27;78(18):5419-5430. Epub 2018 Jul 27.

Division of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, Tennessee.

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http://dx.doi.org/10.1158/0008-5472.CAN-18-0951DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6139053PMC
September 2018

Improved, ACMG-compliant, in silico prediction of pathogenicity for missense substitutions encoded by TP53 variants.

Hum Mutat 2018 08 5;39(8):1061-1069. Epub 2018 Jun 5.

QIMR Berghofer Medical Research Institute, Genetics and Computational Division, Herston, Queensland, Australia.

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http://dx.doi.org/10.1002/humu.23553DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6043381PMC
August 2018

Identification of nine new susceptibility loci for endometrial cancer.

Authors:
Tracy A O'Mara Dylan M Glubb Frederic Amant Daniela Annibali Katie Ashton John Attia Paul L Auer Matthias W Beckmann Amanda Black Manjeet K Bolla Hiltrud Brauch Hermann Brenner Louise Brinton Daniel D Buchanan Barbara Burwinkel Jenny Chang-Claude Stephen J Chanock Chu Chen Maxine M Chen Timothy H T Cheng Christine L Clarke Mark Clendenning Linda S Cook Fergus J Couch Angela Cox Marta Crous-Bous Kamila Czene Felix Day Joe Dennis Jeroen Depreeuw Jennifer Anne Doherty Thilo Dörk Sean C Dowdy Matthias Dürst Arif B Ekici Peter A Fasching Brooke L Fridley Christine M Friedenreich Lin Fritschi Jenny Fung Montserrat García-Closas Mia M Gaudet Graham G Giles Ellen L Goode Maggie Gorman Christopher A Haiman Per Hall Susan E Hankison Catherine S Healey Alexander Hein Peter Hillemanns Shirley Hodgson Erling A Hoivik Elizabeth G Holliday John L Hopper David J Hunter Angela Jones Camilla Krakstad Vessela N Kristensen Diether Lambrechts Loic Le Marchand Xiaolin Liang Annika Lindblom Jolanta Lissowska Jirong Long Lingeng Lu Anthony M Magliocco Lynn Martin Mark McEvoy Alfons Meindl Kyriaki Michailidou Roger L Milne Miriam Mints Grant W Montgomery Rami Nassir Håkan Olsson Irene Orlow Geoffrey Otton Claire Palles John R B Perry Julian Peto Loreall Pooler Jennifer Prescott Tony Proietto Timothy R Rebbeck Harvey A Risch Peter A W Rogers Matthias Rübner Ingo Runnebaum Carlotta Sacerdote Gloria E Sarto Fredrick Schumacher Rodney J Scott V Wendy Setiawan Mitul Shah Xin Sheng Xiao-Ou Shu Melissa C Southey Anthony J Swerdlow Emma Tham Jone Trovik Constance Turman Jonathan P Tyrer Celine Vachon David VanDen Berg Adriaan Vanderstichele Zhaoming Wang Penelope M Webb Nicolas Wentzensen Henrica M J Werner Stacey J Winham Alicja Wolk Lucy Xia Yong-Bing Xiang Hannah P Yang Herbert Yu Wei Zheng Paul D P Pharoah Alison M Dunning Peter Kraft Immaculata De Vivo Ian Tomlinson Douglas F Easton Amanda B Spurdle Deborah J Thompson

Nat Commun 2018 08 9;9(1):3166. Epub 2018 Aug 9.

Department of Public Health and Primary Care, University of Cambridge, Centre for Cancer Genetic Epidemiology, Cambridge, CB1 8RN, UK.

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http://dx.doi.org/10.1038/s41467-018-05427-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6085317PMC
August 2018

Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations.

Authors:
Timothy R Rebbeck Tara M Friebel Eitan Friedman Ute Hamann Dezheng Huo Ava Kwong Edith Olah Olufunmilayo I Olopade Angela R Solano Soo-Hwang Teo Mads Thomassen Jeffrey N Weitzel T L Chan Fergus J Couch David E Goldgar Torben A Kruse Edenir Inêz Palmero Sue Kyung Park Diana Torres Elizabeth J van Rensburg Lesley McGuffog Michael T Parsons Goska Leslie Cora M Aalfs Julio Abugattas Julian Adlard Simona Agata Kristiina Aittomäki Lesley Andrews Irene L Andrulis Adalgeir Arason Norbert Arnold Banu K Arun Ella Asseryanis Leo Auerbach Jacopo Azzollini Judith Balmaña Monica Barile Rosa B Barkardottir Daniel Barrowdale Javier Benitez Andreas Berger Raanan Berger Amie M Blanco Kathleen R Blazer Marinus J Blok Valérie Bonadona Bernardo Bonanni Angela R Bradbury Carole Brewer Bruno Buecher Saundra S Buys Trinidad Caldes Almuth Caliebe Maria A Caligo Ian Campbell Sandrine M Caputo Jocelyne Chiquette Wendy K Chung Kathleen B M Claes J Margriet Collée Jackie Cook Rosemarie Davidson Miguel de la Hoya Kim De Leeneer Antoine de Pauw Capucine Delnatte Orland Diez Yuan Chun Ding Nina Ditsch Susan M Domchek Cecilia M Dorfling Carolina Velazquez Bernd Dworniczak Jacqueline Eason Douglas F Easton Ros Eeles Hans Ehrencrona Bent Ejlertsen Christoph Engel Stefanie Engert D Gareth Evans Laurence Faivre Lidia Feliubadaló Sandra Fert Ferrer Lenka Foretova Jeffrey Fowler Debra Frost Henrique C R Galvão Patricia A Ganz Judy Garber Marion Gauthier-Villars Andrea Gehrig Anne-Marie Gerdes Paul Gesta Giuseppe Giannini Sophie Giraud Gord Glendon Andrew K Godwin Mark H Greene Jacek Gronwald Angelica Gutierrez-Barrera Eric Hahnen Jan Hauke Alex Henderson Julia Hentschel Frans B L Hogervorst Ellen Honisch Evgeny N Imyanitov Claudine Isaacs Louise Izatt Angel Izquierdo Anna Jakubowska Paul James Ramunas Janavicius Uffe Birk Jensen Esther M John Joseph Vijai Katarzyna Kaczmarek Beth Y Karlan Karin Kast KConFab Investigators Sung-Won Kim Irene Konstantopoulou Jacob Korach Yael Laitman Adriana Lasa Christine Lasset Conxi Lázaro Annette Lee Min Hyuk Lee Jenny Lester Fabienne Lesueur Annelie Liljegren Noralane M Lindor Michel Longy Jennifer T Loud Karen H Lu Jan Lubinski Eva Machackova Siranoush Manoukian Véronique Mari Cristina Martínez-Bouzas Zoltan Matrai Noura Mebirouk Hanne E J Meijers-Heijboer Alfons Meindl Arjen R Mensenkamp Ugnius Mickys Austin Miller Marco Montagna Kirsten B Moysich Anna Marie Mulligan Jacob Musinsky Susan L Neuhausen Heli Nevanlinna Joanne Ngeow Huu Phuc Nguyen Dieter Niederacher Henriette Roed Nielsen Finn Cilius Nielsen Robert L Nussbaum Kenneth Offit Anna Öfverholm Kai-Ren Ong Ana Osorio Laura Papi Janos Papp Barbara Pasini Inge Sokilde Pedersen Ana Peixoto Nina Peruga Paolo Peterlongo Esther Pohl Nisha Pradhan Karolina Prajzendanc Fabienne Prieur Pascal Pujol Paolo Radice Susan J Ramus Johanna Rantala Muhammad Usman Rashid Kerstin Rhiem Mark Robson Gustavo C Rodriguez Mark T Rogers Vilius Rudaitis Ane Y Schmidt Rita Katharina Schmutzler Leigha Senter Payal D Shah Priyanka Sharma Lucy E Side Jacques Simard Christian F Singer Anne-Bine Skytte Thomas P Slavin Katie Snape Hagay Sobol Melissa Southey Linda Steele Doris Steinemann Grzegorz Sukiennicki Christian Sutter Csilla I Szabo Yen Y Tan Manuel R Teixeira Mary Beth Terry Alex Teulé Abigail Thomas Darcy L Thull Marc Tischkowitz Silvia Tognazzo Amanda Ewart Toland Sabine Topka Alison H Trainer Nadine Tung Christi J van Asperen Annemieke H van der Hout Lizet E van der Kolk Rob B van der Luijt Mattias Van Heetvelde Liliana Varesco Raymonda Varon-Mateeva Ana Vega Cynthia Villarreal-Garza Anna von Wachenfeldt Lisa Walker Shan Wang-Gohrke Barbara Wappenschmidt Bernhard H F Weber Drakoulis Yannoukakos Sook-Yee Yoon Cristina Zanzottera Jamal Zidan Kristin K Zorn Christina G Hutten Selkirk Peter J Hulick Georgia Chenevix-Trench Amanda B Spurdle Antonis C Antoniou Katherine L Nathanson

Hum Mutat 2018 05 12;39(5):593-620. Epub 2018 Mar 12.

Department of Medicine, Abramson Cancer Center, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, USA.

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http://dx.doi.org/10.1002/humu.23406DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5903938PMC
May 2018

The BRCA2 c.68-7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity.

Authors:
Mara Colombo Irene Lòpez-Perolio Huong D Meeks Laura Caleca Michael T Parsons Hongyan Li Giovanna De Vecchi Emma Tudini Claudia Foglia Patrizia Mondini Siranoush Manoukian Raquel Behar Encarna B Gómez Garcia Alfons Meindl Marco Montagna Dieter Niederacher Ane Y Schmidt Liliana Varesco Barbara Wappenschmidt Manjeet K Bolla Joe Dennis Kyriaki Michailidou Qin Wang Kristiina Aittomäki Irene L Andrulis Hoda Anton-Culver Volker Arndt Matthias W Beckmann Alicia Beeghly-Fadel Javier Benitez Bram Boeckx Natalia V Bogdanova Stig E Bojesen Bernardo Bonanni Hiltrud Brauch Hermann Brenner Barbara Burwinkel Jenny Chang-Claude Don M Conroy Fergus J Couch Angela Cox Simon S Cross Kamila Czene Peter Devilee Thilo Dörk Mikael Eriksson Peter A Fasching Jonine Figueroa Olivia Fletcher Henrik Flyger Marike Gabrielson Montserrat García-Closas Graham G Giles Anna González-Neira Pascal Guénel Christopher A Haiman Per Hall Ute Hamann Mikael Hartman Jan Hauke Antoinette Hollestelle John L Hopper Anna Jakubowska Audrey Jung Veli-Matti Kosma Diether Lambrechts Loid Le Marchand Annika Lindblom Jan Lubinski Arto Mannermaa Sara Margolin Hui Miao Roger L Milne Susan L Neuhausen Heli Nevanlinna Janet E Olson Paolo Peterlongo Julian Peto Katri Pylkäs Elinor J Sawyer Marjanka K Schmidt Rita K Schmutzler Andreas Schneeweiss Minouk J Schoemaker Mee Hoong See Melissa C Southey Anthony Swerdlow Soo H Teo Amanda E Toland Ian Tomlinson Thérèse Truong Christi J van Asperen Ans M W van den Ouweland Lizet E van der Kolk Robert Winqvist Drakoulis Yannoukakos Wei Zheng Alison M Dunning Douglas F Easton Alex Henderson Frans B L Hogervorst Louise Izatt Kenneth Offitt Lucy E Side Elizabeth J van Rensburg Study Embrace Study Hebon Lesley McGuffog Antonis C Antoniou Georgia Chenevix-Trench Amanda B Spurdle David E Goldgar Miguel de la Hoya Paolo Radice

Hum Mutat 2018 05 6;39(5):729-741. Epub 2018 Apr 6.

Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Research, Fondazione IRCCS (Istituto di Ricovero e Cura a Carattere Scientifico) Istituto Nazionale dei Tumori (INT), Milan, Italy.

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http://dx.doi.org/10.1002/humu.23411DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5947288PMC
May 2018

Endometrial cancer risk and survival by tumor MMR status.

J Gynecol Oncol 2018 May 23;29(3):e39. Epub 2018 Feb 23.

Genetics & Computational Biology Department, QIMR Berghofer Medical Research Institute, Royal Brisbane Hospital, Brisbane, Australia.

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http://dx.doi.org/10.3802/jgo.2018.29.e39DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5920223PMC
May 2018

Genetic overlap between endometriosis and endometrial cancer: evidence from cross-disease genetic correlation and GWAS meta-analyses.

Cancer Med 2018 05 2;7(5):1978-1987. Epub 2018 Apr 2.

Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.

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http://dx.doi.org/10.1002/cam4.1445DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5943470PMC
May 2018

ER and PR expression and survival after endometrial cancer.

Gynecol Oncol 2018 02 6;148(2):258-266. Epub 2017 Dec 6.

Population Health Department QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.ygyno.2017.11.027DOI Listing
February 2018

Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer.

Authors:
Roger L Milne Karoline B Kuchenbaecker Kyriaki Michailidou Jonathan Beesley Siddhartha Kar Sara Lindström Shirley Hui Audrey Lemaçon Penny Soucy Joe Dennis Xia Jiang Asha Rostamianfar Hilary Finucane Manjeet K Bolla Lesley McGuffog Qin Wang Cora M Aalfs Marcia Adams Julian Adlard Simona Agata Shahana Ahmed Habibul Ahsan Kristiina Aittomäki Fares Al-Ejeh Jamie Allen Christine B Ambrosone Christopher I Amos Irene L Andrulis Hoda Anton-Culver Natalia N Antonenkova Volker Arndt Norbert Arnold Kristan J Aronson Bernd Auber Paul L Auer Margreet G E M Ausems Jacopo Azzollini François Bacot Judith Balmaña Monica Barile Laure Barjhoux Rosa B Barkardottir Myrto Barrdahl Daniel Barnes Daniel Barrowdale Caroline Baynes Matthias W Beckmann Javier Benitez Marina Bermisheva Leslie Bernstein Yves-Jean Bignon Kathleen R Blazer Marinus J Blok Carl Blomqvist William Blot Kristie Bobolis Bram Boeckx Natalia V Bogdanova Anders Bojesen Stig E Bojesen Bernardo Bonanni Anne-Lise Børresen-Dale Aniko Bozsik Angela R Bradbury Judith S Brand Hiltrud Brauch Hermann Brenner Brigitte Bressac-de Paillerets Carole Brewer Louise Brinton Per Broberg Angela Brooks-Wilson Joan Brunet Thomas Brüning Barbara Burwinkel Saundra S Buys Jinyoung Byun Qiuyin Cai Trinidad Caldés Maria A Caligo Ian Campbell Federico Canzian Olivier Caron Angel Carracedo Brian D Carter J Esteban Castelao Laurent Castera Virginie Caux-Moncoutier Salina B Chan Jenny Chang-Claude Stephen J Chanock Xiaoqing Chen Ting-Yuan David Cheng Jocelyne Chiquette Hans Christiansen Kathleen B M Claes Christine L Clarke Thomas Conner Don M Conroy Jackie Cook Emilie Cordina-Duverger Sten Cornelissen Isabelle Coupier Angela Cox David G Cox Simon S Cross Katarina Cuk Julie M Cunningham Kamila Czene Mary B Daly Francesca Damiola Hatef Darabi Rosemarie Davidson Kim De Leeneer Peter Devilee Ed Dicks Orland Diez Yuan Chun Ding Nina Ditsch Kimberly F Doheny Susan M Domchek Cecilia M Dorfling Thilo Dörk Isabel Dos-Santos-Silva Stéphane Dubois Pierre-Antoine Dugué Martine Dumont Alison M Dunning Lorraine Durcan Miriam Dwek Bernd Dworniczak Diana Eccles Ros Eeles Hans Ehrencrona Ursula Eilber Bent Ejlertsen Arif B Ekici A Heather Eliassen Christoph Engel Mikael Eriksson Laura Fachal Laurence Faivre Peter A Fasching Ulrike Faust Jonine Figueroa Dieter Flesch-Janys Olivia Fletcher Henrik Flyger William D Foulkes Eitan Friedman Lin Fritschi Debra Frost Marike Gabrielson Pragna Gaddam Marilie D Gammon Patricia A Ganz Susan M Gapstur Judy Garber Vanesa Garcia-Barberan José A García-Sáenz Mia M Gaudet Marion Gauthier-Villars Andrea Gehrig Vassilios Georgoulias Anne-Marie Gerdes Graham G Giles Gord Glendon Andrew K Godwin Mark S Goldberg David E Goldgar Anna González-Neira Paul Goodfellow Mark H Greene Grethe I Grenaker Alnæs Mervi Grip Jacek Gronwald Anne Grundy Daphne Gschwantler-Kaulich Pascal Guénel Qi Guo Lothar Haeberle Eric Hahnen Christopher A Haiman Niclas Håkansson Emily Hallberg Ute Hamann Nathalie Hamel Susan Hankinson Thomas V O Hansen Patricia Harrington Steven N Hart Jaana M Hartikainen Catherine S Healey Alexander Hein Sonja Helbig Alex Henderson Jane Heyworth Belynda Hicks Peter Hillemanns Shirley Hodgson Frans B Hogervorst Antoinette Hollestelle Maartje J Hooning Bob Hoover John L Hopper Chunling Hu Guanmengqian Huang Peter J Hulick Keith Humphreys David J Hunter Evgeny N Imyanitov Claudine Isaacs Motoki Iwasaki Louise Izatt Anna Jakubowska Paul James Ramunas Janavicius Wolfgang Janni Uffe Birk Jensen Esther M John Nichola Johnson Kristine Jones Michael Jones Arja Jukkola-Vuorinen Rudolf Kaaks Maria Kabisch Katarzyna Kaczmarek Daehee Kang Karin Kast Renske Keeman Michael J Kerin Carolien M Kets Machteld Keupers Sofia Khan Elza Khusnutdinova Johanna I Kiiski Sung-Won Kim Julia A Knight Irene Konstantopoulou Veli-Matti Kosma Vessela N Kristensen Torben A Kruse Ava Kwong Anne-Vibeke Lænkholm Yael Laitman Fiona Lalloo Diether Lambrechts Keren Landsman Christine Lasset Conxi Lazaro Loic Le Marchand Julie Lecarpentier Andrew Lee Eunjung Lee Jong Won Lee Min Hyuk Lee Flavio Lejbkowicz Fabienne Lesueur Jingmei Li Jenna Lilyquist Anne Lincoln Annika Lindblom Jolanta Lissowska Wing-Yee Lo Sibylle Loibl Jirong Long Jennifer T Loud Jan Lubinski Craig Luccarini Michael Lush Robert J MacInnis Tom Maishman Enes Makalic Ivana Maleva Kostovska Kathleen E Malone Siranoush Manoukian JoAnn E Manson Sara Margolin John W M Martens Maria Elena Martinez Keitaro Matsuo Dimitrios Mavroudis Sylvie Mazoyer Catriona McLean Hanne Meijers-Heijboer Primitiva Menéndez Jeffery Meyer Hui Miao Austin Miller Nicola Miller Gillian Mitchell Marco Montagna Kenneth Muir Anna Marie Mulligan Claire Mulot Sue Nadesan Katherine L Nathanson Susan L Neuhausen Heli Nevanlinna Ines Nevelsteen Dieter Niederacher Sune F Nielsen Børge G Nordestgaard Aaron Norman Robert L Nussbaum Edith Olah Olufunmilayo I Olopade Janet E Olson Curtis Olswold Kai-Ren Ong Jan C Oosterwijk Nick Orr Ana Osorio V Shane Pankratz Laura Papi Tjoung-Won Park-Simon Ylva Paulsson-Karlsson Rachel Lloyd Inge Søkilde Pedersen Bernard Peissel Ana Peixoto Jose I A Perez Paolo Peterlongo Julian Peto Georg Pfeiler Catherine M Phelan Mila Pinchev Dijana Plaseska-Karanfilska Bruce Poppe Mary E Porteous Ross Prentice Nadege Presneau Darya Prokofieva Elizabeth Pugh Miquel Angel Pujana Katri Pylkäs Brigitte Rack Paolo Radice Nazneen Rahman Johanna Rantala Christine Rappaport-Fuerhauser Gad Rennert Hedy S Rennert Valerie Rhenius Kerstin Rhiem Andrea Richardson Gustavo C Rodriguez Atocha Romero Jane Romm Matti A Rookus Anja Rudolph Thomas Ruediger Emmanouil Saloustros Joyce Sanders Dale P Sandler Suleeporn Sangrajrang Elinor J Sawyer Daniel F Schmidt Minouk J Schoemaker Fredrick Schumacher Peter Schürmann Lukas Schwentner Christopher Scott Rodney J Scott Sheila Seal Leigha Senter Caroline Seynaeve Mitul Shah Priyanka Sharma Chen-Yang Shen Xin Sheng Hermela Shimelis Martha J Shrubsole Xiao-Ou Shu Lucy E Side Christian F Singer Christof Sohn Melissa C Southey John J Spinelli Amanda B Spurdle Christa Stegmaier Dominique Stoppa-Lyonnet Grzegorz Sukiennicki Harald Surowy Christian Sutter Anthony Swerdlow Csilla I Szabo Rulla M Tamimi Yen Y Tan Jack A Taylor Maria-Isabel Tejada Maria Tengström Soo H Teo Mary B Terry Daniel C Tessier Alex Teulé Kathrin Thöne Darcy L Thull Maria Grazia Tibiletti Laima Tihomirova Marc Tischkowitz Amanda E Toland Rob A E M Tollenaar Ian Tomlinson Ling Tong Diana Torres Martine Tranchant Thérèse Truong Kathy Tucker Nadine Tung Jonathan Tyrer Hans-Ulrich Ulmer Celine Vachon Christi J van Asperen David Van Den Berg Ans M W van den Ouweland Elizabeth J van Rensburg Liliana Varesco Raymonda Varon-Mateeva Ana Vega Alessandra Viel Joseph Vijai Daniel Vincent Jason Vollenweider Lisa Walker Zhaoming Wang Shan Wang-Gohrke Barbara Wappenschmidt Clarice R Weinberg Jeffrey N Weitzel Camilla Wendt Jelle Wesseling Alice S Whittemore Juul T Wijnen Walter Willett Robert Winqvist Alicja Wolk Anna H Wu Lucy Xia Xiaohong R Yang Drakoulis Yannoukakos Daniela Zaffaroni Wei Zheng Bin Zhu Argyrios Ziogas Elad Ziv Kristin K Zorn Manuela Gago-Dominguez Arto Mannermaa Håkan Olsson Manuel R Teixeira Jennifer Stone Kenneth Offit Laura Ottini Sue K Park Mads Thomassen Per Hall Alfons Meindl Rita K Schmutzler Arnaud Droit Gary D Bader Paul D P Pharoah Fergus J Couch Douglas F Easton Peter Kraft Georgia Chenevix-Trench Montserrat García-Closas Marjanka K Schmidt Antonis C Antoniou Jacques Simard

Nat Genet 2017 Dec 23;49(12):1767-1778. Epub 2017 Oct 23.

Genomics Center, Centre Hospitalier Universitaire de Québec Research Center, Laval University, Québec City, Québec, Canada.

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http://dx.doi.org/10.1038/ng.3785DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5808456PMC
December 2017

Family history of cancer predicts endometrial cancer risk independently of Lynch Syndrome: Implications for genetic counselling.

Gynecol Oncol 2017 11 17;147(2):381-387. Epub 2017 Aug 17.

Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.ygyno.2017.08.011DOI Listing
November 2017

Endometrial cancer gene panels: clinical diagnostic vs research germline DNA testing.

Mod Pathol 2017 08 28;30(8):1048-1068. Epub 2017 Apr 28.

Familial Cancer Service, Crown Princess Mary Cancer Centre, Westmead Hospital, Sydney Medical School, University of Sydney, Centre for Cancer Research, The Westmead Institute for Medical Research, Westmead, NSW, Australia.

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http://dx.doi.org/10.1038/modpathol.2017.20DOI Listing
August 2017

More on Co-Occurrence of COMT and BRCA1/2 Variants in a Population.

N Engl J Med 2017 08;377(8):795

University of Cambridge, Cambridge, United Kingdom.

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http://dx.doi.org/10.1056/NEJMc1708425DOI Listing
August 2017

Prediction of Breast and Prostate Cancer Risks in Male BRCA1 and BRCA2 Mutation Carriers Using Polygenic Risk Scores.

Authors:
Julie Lecarpentier Valentina Silvestri Karoline B Kuchenbaecker Daniel Barrowdale Joe Dennis Lesley McGuffog Penny Soucy Goska Leslie Piera Rizzolo Anna Sara Navazio Virginia Valentini Veronica Zelli Andrew Lee Ali Amin Al Olama Jonathan P Tyrer Melissa Southey Esther M John Thomas A Conner David E Goldgar Saundra S Buys Ramunas Janavicius Linda Steele Yuan Chun Ding Susan L Neuhausen Thomas V O Hansen Ana Osorio Jeffrey N Weitzel Angela Toss Veronica Medici Laura Cortesi Ines Zanna Domenico Palli Paolo Radice Siranoush Manoukian Bernard Peissel Jacopo Azzollini Alessandra Viel Giulia Cini Giuseppe Damante Stefania Tommasi Paolo Peterlongo Florentia Fostira Ute Hamann D Gareth Evans Alex Henderson Carole Brewer Diana Eccles Jackie Cook Kai-Ren Ong Lisa Walker Lucy E Side Mary E Porteous Rosemarie Davidson Shirley Hodgson Debra Frost Julian Adlard Louise Izatt Ros Eeles Steve Ellis Marc Tischkowitz Andrew K Godwin Alfons Meindl Andrea Gehrig Bernd Dworniczak Christian Sutter Christoph Engel Dieter Niederacher Doris Steinemann Eric Hahnen Jan Hauke Kerstin Rhiem Karin Kast Norbert Arnold Nina Ditsch Shan Wang-Gohrke Barbara Wappenschmidt Dorothea Wand Christine Lasset Dominique Stoppa-Lyonnet Muriel Belotti Francesca Damiola Laure Barjhoux Sylvie Mazoyer Mattias Van Heetvelde Bruce Poppe Kim De Leeneer Kathleen B M Claes Miguel de la Hoya Vanesa Garcia-Barberan Trinidad Caldes Pedro Perez Segura Johanna I Kiiski Kristiina Aittomäki Sofia Khan Heli Nevanlinna Christi J van Asperen Tibor Vaszko Miklos Kasler Edith Olah Judith Balmaña Sara Gutiérrez-Enríquez Orland Diez Alex Teulé Angel Izquierdo Esther Darder Joan Brunet Jesús Del Valle Lidia Feliubadalo Miquel Angel Pujana Conxi Lazaro Adalgeir Arason Bjarni A Agnarsson Oskar Th Johannsson Rosa B Barkardottir Elisa Alducci Silvia Tognazzo Marco Montagna Manuel R Teixeira Pedro Pinto Amanda B Spurdle Helene Holland Jong Won Lee Min Hyuk Lee Jihyoun Lee Sung-Won Kim Eunyoung Kang Zisun Kim Priyanka Sharma Timothy R Rebbeck Joseph Vijai Mark Robson Anne Lincoln Jacob Musinsky Pragna Gaddam Yen Y Tan Andreas Berger Christian F Singer Jennifer T Loud Mark H Greene Anna Marie Mulligan Gord Glendon Irene L Andrulis Amanda Ewart Toland Leigha Senter Anders Bojesen Henriette Roed Nielsen Anne-Bine Skytte Lone Sunde Uffe Birk Jensen Inge Sokilde Pedersen Lotte Krogh Torben A Kruse Maria A Caligo Sook-Yee Yoon Soo-Hwang Teo Anna von Wachenfeldt Dezheng Huo Sarah M Nielsen Olufunmilayo I Olopade Katherine L Nathanson Susan M Domchek Christa Lorenchick Rachel C Jankowitz Ian Campbell Paul James Gillian Mitchell Nick Orr Sue Kyung Park Mads Thomassen Kenneth Offit Fergus J Couch Jacques Simard Douglas F Easton Georgia Chenevix-Trench Rita K Schmutzler Antonis C Antoniou Laura Ottini

J Clin Oncol 2017 Jul 27;35(20):2240-2250. Epub 2017 Apr 27.

Julie Lecarpentier, Karoline B. Kuchenbaecker, Daniel Barrowdale, Joe Dennis, Lesley McGuffog, Goska Leslie, Andrew Lee, Ali Amin Al Olama, Jonathan P. Tyrer, Debra Frost, Steve Ellis, Douglas F. Easton, and Antonis C. Antoniou, University of Cambridge; Karoline B. Kuchenbaecker, The Wellcome Trust Sanger Institute, Hinxton; Marc Tischkowitz, Addenbrooke's Treatment Centre, Addenbrooke's Hospital, Cambridge; D. Gareth Evans, Manchester University, Central Manchester University Hospitals NHS Foundation Trust, Manchester; Alex Henderson, Newcastle Upon Tyne Hospitals NHS Trust, Newcastle upon Tyne; Carole Brewer, Royal Devon and Exeter Hospital, Exeter; Diana Eccles, Southampton University Hospitals NHS Trust, Southampton; Jackie Cook, Sheffield Children's Hospital, Sheffield; Kai-ren Ong, Birmingham Women's Hospital Healthcare NHS Trust, Edgbaston, Birmingham; Lisa Walker, Churchill Hospital, Oxford; Lucy E. Side, Great Ormond Street Hospital for Children NHS Trust; Shirley Hodgson, St George's, University of London; Louise Izatt, Guy's and St Thomas' NHS Foundation Trust; Ros Eeles, The Institute of Cancer Research and Royal Marsden NHS Foundation Trust; Nick Orr, The Institute of Cancer Research, London; Mary E. Porteous, Western General Hospital, Edinburgh; Rosemarie Davidson, South Glasgow University Hospitals, Glasgow; Julian Adlard, Chapel Allerton Hospital, Leeds, United Kingdom; Valentina Silvestri, Piera Rizzolo, Anna Sara Navazio, Virginia Valentini, Veronica Zelli, and Laura Ottini, Sapienza University of Rome, Rome; Angela Toss, Veronica Medici, and Laura Cortesi, University of Modena and Reggio Emilia, Modena; Ines Zanna and Domenico Palli, Cancer Research and Prevention Institute, Florence; Paolo Radice, Siranoush Manoukian, Bernard Peissel, and Jacopo Azzollini, Fondazione Istituto Di Ricovero e Cura a Carattere Scientifico (IRCCS) Istituto Nazionale Tumori (INT); Paolo Peterlongo, Italian Foundation for Cancer Research Institute of Molecular Oncology (IFOM), Milan; Alessandra Viel and Giulia Cini, CRO Aviano, National Cancer Institute, Aviano; Giuseppe Damante, University of Udine, Udine; Stefania Tommasi, Istituto Nazionale Tumori "Giovanni Paolo II", Bari; Elisa Alducci, Silvia Tognazzo, and Marco Montagna, Veneto Institute of Oncology IOV - IRCCS, Padua; Maria A. Caligo, University and University Hospital of Pisa, Pisa, Italy; Penny Soucy and Jacques Simard, Centre Hospitalier Universitaire de Québec Research Center and Laval University, Quebec City, Quebec; Anna Marie Mulligan and Irene L. Andrulis, University of Toronto; Gord Glendon and Irene L. Andrulis, Mount Sinai Hospital, Toronto, Ontario, Canada; Melissa Southey, Ian Campbell, Paul James, and Gillian Mitchell, University of Melbourne, Parkville, Victoria; Amanda B. Spurdle, Helene Holland, and Georgia Chenevix-Trench, QIMR Berghofer Medical Research Institute, Brisbane, Queensland; Ian Campbell, Paul James, and Gillian Mitchell, Peter MacCallum Cancer Centre, East Melbourne, New South Wales, Australia; Esther M. John, Cancer Prevention Institute of California, Fremont; Linda Steele, Yuan Chun Ding, Susan L. Neuhausen, and Jeffrey N. Weitzel, City of Hope, Duarte, CA; Thomas A. Conner and Saundra S. Buys, Huntsman Cancer Institute; David E. Goldgar, University of Utah School of Medicine, Salt Lake City, UT; Andrew K. Godwin, University of Kansas Medical Center, Kansas City; Priyanka Sharma, University of Kansas Medical Center, Westwood, KS; Timothy R. Rebbeck, Harvard TH Chan School of Public Health and Dana Farber Cancer Institute, Boston, MA; Joseph Vijai, Mark Robson, Anne Lincoln, Jacob Musinsky, Pragna Gaddam, and Kenneth Offit, Memorial Sloan Kettering Cancer Center, New York, NY; Jennifer T. Loud and Mark H. Greene, National Cancer Institute, Bethesda, MD; Amanda Ewart Toland and Leigha Senter, The Ohio State University, Columbus, OH; Dezheng Huo, Sarah M. Nielsen, and Olufunmilayo I. Olopade, University of Chicago Medical Center, Chicago, IL; Katherine L. Nathanson and Susan M. Domchek, University of Pennsylvania, Philadelphia; Christa Lorenchick and Rachel C. Jankowitz, University of Pittsburgh Medical Center, Pittsburgh, PA; Fergus J. Couch, Mayo Clinic, Rochester, MN; Ramunas Janavicius, State Research Institute Innovative Medicine Center, Vilnius, Lithuania; Thomas V.O. Hansen, Rigshospitalet, Copenhagen University Hospital, Copenhagen; Anders Bojesen and Henriette Roed Nielsen, Vejle Hospital, Vejle; Anne-Bine Skytte, Lone Sunde, and Uffe Birk Jensen, Aarhus University Hospital, Aarhus; Inge Sokilde Pedersen, Aalborg University Hospital, Aalborg; Lotte Krogh, Torben A. Kruse, and Mads Thomassen, Odense University Hospital, Odense, Denmark; Ana Osorio, National Cancer Research Centre and Spanish Network on Rare Diseases; Miguel de la Hoya, Vanesa Garcia-Barberan, Trinidad Caldes, and Pedro Perez Segura, Hospital Clinico San Carlos, El Instituto de Investigación Sanitaria del Hospital Clínico San Carlos, Madrid; Judith Balmaña, University Hospital, Vall d'Hebron; Sara Gutiérrez-Enríquez and Orland Diez, Vall d'Hebron Institute of Oncology; Orland Diez, University Hospital Vall d'Hebron; Alex Teulé, Jesús Del Valle, Lidia Feliubadalo, Miquel Angel Pujana, and Conxi Lazaro, Bellvitge Biomedical Research Institute, Catalan Institute of Oncology, Barcelona; Angel Izquierdo, Esther Darder, and Joan Brunet, Institut d'Investigació Biomèdica de Girona, Catalan Institute of Oncology, Girona, Spain; Florentia Fostira, National Centre for Scientific Research "Demokritos," Athens, Greece; Ute Hamann, German Cancer Research Center (DKFZ); Christian Sutter, University Hospital Heidelberg, Heidelberg; Alfons Meindl, Klinikumrechts der Isar, Technical University Munich; Nina Ditsch, Ludwig-Maximilian University, Munich; Andrea Gehrig, University Würzburg, Würzburg; Bernd Dworniczak, University of Münster, Münster; Christoph Engel, University of Leipzig; Dorothea Wand, University Hospital, Leipzig; Dieter Niederacher, University Hospital Düsseldorf, Heinrich-Heine University, Düsseldorf; Doris Steinemann, Hannover Medical School, Hannover; Eric Hahnen, Jan Hauke, Kerstin Rhiem, Barbara Wappenschmidt, and Rita K. Schmutzler, University Hospital Cologne, Cologne; Karin Kast, University Hospital Carl Gustav Carus, Technical University Dresden, Dresden; Norbert Arnold, University Hospital of Schleswig-Holstein, Christian-Albrechts University Kiel, Kiel; Shan Wang-Gohrke, University Hospital Ulm, Ulm, Germany; Christine Lasset, Francesca Damiola, and Laure Barjhoux, Centre Léon Bérard; Sylvie Mazoyer, University of Lyon, Lyon; Dominique Stoppa-Lyonnet and Muriel Belotti, Institut Curie, Paris, France; Mattias Van Heetvelde, Bruce Poppe, Kim De Leeneer, and Kathleen B.M. Claes, Ghent University, Gent, Belgium; Johanna I. Kiiski, Sofia Khan, and Heli Nevanlinna, University of Helsinki; Johanna I. Kiiski, Kristiina Aittomäki, Sofia Khan, and Heli Nevanlinna, Helsinki University Hospital, Helsinki, Finland; Christi J. van Asperen, Leiden University Medical Center, Leiden, the Netherlands; Tibor Vaszko, Miklos Kasler, and Edith Olah, National Institute of Oncology, Budapest, Hungary; Adalgeir Arason, Bjarni A. Agnarsson, Oskar Th. Johannsson, and Rosa B. Barkardottir, Landspitali University Hospital and Biomedical Centre, University of Iceland, Reykjavik, Iceland; Manuel R. Teixeira and Pedro Pinto, Portuguese Oncology Institute; Manuel R. Teixeira, Porto University, Porto, Portugal; Jong Won Lee, Ulsan College of Medicine and Asan Medical Center; Min Hyuk Lee and Jihyoun Lee, Soonchunhyang University and Hospital; Sung-Won Kim and Eunyoung Kang, Daerim St Mary's Hospital; Sue Kyung Park, Seoul National University College of Medicine, Seoul; Zisun Kim, Soonchunhyang University Bucheon Hospital, Bucheon, Korea; Yen Y. Tan, Andreas Berger, and Christian F. Singer, Medical University of Vienna, Vienna, Austria; Sook-Yee Yoon and Soo-Hwang Teo, Sime Darby Medical Centre, Subang Jaya, Malaysia; and Anna von Wachenfeldt, Karolinska University Hospital, Stockholm, Sweden.

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http://dx.doi.org/10.1200/JCO.2016.69.4935DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5501359PMC
July 2017

Genomic analyses identify hundreds of variants associated with age at menarche and support a role for puberty timing in cancer risk.

Authors:
Felix R Day Deborah J Thompson Hannes Helgason Daniel I Chasman Hilary Finucane Patrick Sulem Katherine S Ruth Sean Whalen Abhishek K Sarkar Eva Albrecht Elisabeth Altmaier Marzyeh Amini Caterina M Barbieri Thibaud Boutin Archie Campbell Ellen Demerath Ayush Giri Chunyan He Jouke J Hottenga Robert Karlsson Ivana Kolcic Po-Ru Loh Kathryn L Lunetta Massimo Mangino Brumat Marco George McMahon Sarah E Medland Ilja M Nolte Raymond Noordam Teresa Nutile Lavinia Paternoster Natalia Perjakova Eleonora Porcu Lynda M Rose Katharina E Schraut Ayellet V Segrè Albert V Smith Lisette Stolk Alexander Teumer Irene L Andrulis Stefania Bandinelli Matthias W Beckmann Javier Benitez Sven Bergmann Murielle Bochud Eric Boerwinkle Stig E Bojesen Manjeet K Bolla Judith S Brand Hiltrud Brauch Hermann Brenner Linda Broer Thomas Brüning Julie E Buring Harry Campbell Eulalia Catamo Stephen Chanock Georgia Chenevix-Trench Tanguy Corre Fergus J Couch Diana L Cousminer Angela Cox Laura Crisponi Kamila Czene George Davey Smith Eco J C N de Geus Renée de Mutsert Immaculata De Vivo Joe Dennis Peter Devilee Isabel Dos-Santos-Silva Alison M Dunning Johan G Eriksson Peter A Fasching Lindsay Fernández-Rhodes Luigi Ferrucci Dieter Flesch-Janys Lude Franke Marike Gabrielson Ilaria Gandin Graham G Giles Harald Grallert Daniel F Gudbjartsson Pascal Guénel Per Hall Emily Hallberg Ute Hamann Tamara B Harris Catharina A Hartman Gerardo Heiss Maartje J Hooning John L Hopper Frank Hu David J Hunter M Arfan Ikram Hae Kyung Im Marjo-Riitta Järvelin Peter K Joshi David Karasik Manolis Kellis Zoltan Kutalik Genevieve LaChance Diether Lambrechts Claudia Langenberg Lenore J Launer Joop S E Laven Stefania Lenarduzzi Jingmei Li Penelope A Lind Sara Lindstrom YongMei Liu Jian'an Luan Reedik Mägi Arto Mannermaa Hamdi Mbarek Mark I McCarthy Christa Meisinger Thomas Meitinger Cristina Menni Andres Metspalu Kyriaki Michailidou Lili Milani Roger L Milne Grant W Montgomery Anna M Mulligan Mike A Nalls Pau Navarro Heli Nevanlinna Dale R Nyholt Albertine J Oldehinkel Tracy A O'Mara Sandosh Padmanabhan Aarno Palotie Nancy Pedersen Annette Peters Julian Peto Paul D P Pharoah Anneli Pouta Paolo Radice Iffat Rahman Susan M Ring Antonietta Robino Frits R Rosendaal Igor Rudan Rico Rueedi Daniela Ruggiero Cinzia F Sala Marjanka K Schmidt Robert A Scott Mitul Shah Rossella Sorice Melissa C Southey Ulla Sovio Meir Stampfer Maristella Steri Konstantin Strauch Toshiko Tanaka Emmi Tikkanen Nicholas J Timpson Michela Traglia Thérèse Truong Jonathan P Tyrer André G Uitterlinden Digna R Velez Edwards Veronique Vitart Uwe Völker Peter Vollenweider Qin Wang Elisabeth Widen Ko Willems van Dijk Gonneke Willemsen Robert Winqvist Bruce H R Wolffenbuttel Jing Hua Zhao Magdalena Zoledziewska Marek Zygmunt Behrooz Z Alizadeh Dorret I Boomsma Marina Ciullo Francesco Cucca Tõnu Esko Nora Franceschini Christian Gieger Vilmundur Gudnason Caroline Hayward Peter Kraft Debbie A Lawlor Patrik K E Magnusson Nicholas G Martin Dennis O Mook-Kanamori Ellen A Nohr Ozren Polasek David Porteous Alkes L Price Paul M Ridker Harold Snieder Tim D Spector Doris Stöckl Daniela Toniolo Sheila Ulivi Jenny A Visser Henry Völzke Nicholas J Wareham James F Wilson Amanda B Spurdle Unnur Thorsteindottir Katherine S Pollard Douglas F Easton Joyce Y Tung Jenny Chang-Claude David Hinds Anna Murray Joanne M Murabito Kari Stefansson Ken K Ong John R B Perry

Nat Genet 2017 Jun 24;49(6):834-841. Epub 2017 Apr 24.

MRC Epidemiology Unit, University of Cambridge School of Clinical Medicine, Institute of Metabolic Science, Cambridge Biomedical Campus, Cambridge, UK.

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http://dx.doi.org/10.1038/ng.3841DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5841952PMC
June 2017

Breastfeeding and Endometrial Cancer Risk: An Analysis From the Epidemiology of Endometrial Cancer Consortium.

Obstet Gynecol 2017 06;129(6):1059-1067

QIMR Berghofer Medical Research Institute, and the University of Queensland, School of Public Health, Brisbane, Australia; the Department of Epidemiology, Boston University School of Public Health, Boston, Massachusetts; the Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden; the Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, Maryland; the Division of Public Health Sciences, Fred Hutchinson Cancer Research Center, Seattle, Washington; the Department of Internal Medicine and UNM Comprehensive Cancer Center, University of New Mexico, Albuquerque, New Mexico; the Department of Cancer Epidemiology and Prevention Research, CancerControl Alberta, Alberta Health Services, Calgary, Alberta, Canada; the Unit of Cancer Epidemiology, CRO Aviano, National Cancer Institute, IRCCS, Aviano, Italy; Channing Laboratory, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts; the Department of Epidemiology and Environmental Health, University at Buffalo, Buffalo, New York; the Department of Clinical Sciences and Community Health, Università degli Studi di Milano, Milano, Italy; Cancer Prevention and Control, Roswell Park Cancer Institute, Buffalo, New York; Yale School of Public Health, New Haven, Connecticut; the Department of Epidemiology and Biostatistics, Memorial Sloan Kettering Cancer Center, New York, New York; Slone Epidemiology Center, Boston University, Boston, Massachusetts; the Department of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, California; Harvard TH Chan School of Public Health and Dana Farber Cancer Institute, Boston, Massachusetts; the Unit of Cancer Epidemiology, Città della Salute e della Scienza University-Hospital and Center for Cancer Prevention (CPO), Turin, Italy; the Division of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Centre, Vanderbilt University School of Medicine, Nashville, Tennessee; the Cancer Registry of Norway, Institute of Population-Based Cancer Research, Oslo, Norway; the Genetic Epidemiology Group, Folkhälsan Research Center, Helsinki, Finland; the Department of Community Medicine, University of Tromsø, and the Arctic University of Norway, Tromsø, Norway; and the Epidemiology Program, University of Hawaii Cancer Center, Honolulu, Hawaii.

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http://dx.doi.org/10.1097/AOG.0000000000002057DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5473170PMC
June 2017

Association Between Telomere Length and Risk of Cancer and Non-Neoplastic Diseases: A Mendelian Randomization Study.

Authors:
Philip C Haycock Stephen Burgess Aayah Nounu Jie Zheng George N Okoli Jack Bowden Kaitlin Hazel Wade Nicholas J Timpson David M Evans Peter Willeit Abraham Aviv Tom R Gaunt Gibran Hemani Massimo Mangino Hayley Patricia Ellis Kathreena M Kurian Karen A Pooley Rosalind A Eeles Jeffrey E Lee Shenying Fang Wei V Chen Matthew H Law Lisa M Bowdler Mark M Iles Qiong Yang Bradford B Worrall Hugh Stephen Markus Rayjean J Hung Chris I Amos Amanda B Spurdle Deborah J Thompson Tracy A O'Mara Brian Wolpin Laufey Amundadottir Rachael Stolzenberg-Solomon Antonia Trichopoulou N Charlotte Onland-Moret Eiliv Lund Eric J Duell Federico Canzian Gianluca Severi Kim Overvad Marc J Gunter Rosario Tumino Ulrika Svenson Andre van Rij Annette F Baas Matthew J Bown Nilesh J Samani Femke N G van t'Hof Gerard Tromp Gregory T Jones Helena Kuivaniemi James R Elmore Mattias Johansson James Mckay Ghislaine Scelo Robert Carreras-Torres Valerie Gaborieau Paul Brennan Paige M Bracci Rachel E Neale Sara H Olson Steven Gallinger Donghui Li Gloria M Petersen Harvey A Risch Alison P Klein Jiali Han Christian C Abnet Neal D Freedman Philip R Taylor John M Maris Katja K Aben Lambertus A Kiemeney Sita H Vermeulen John K Wiencke Kyle M Walsh Margaret Wrensch Terri Rice Clare Turnbull Kevin Litchfield Lavinia Paternoster Marie Standl Gonçalo R Abecasis John Paul SanGiovanni Yong Li Vladan Mijatovic Yadav Sapkota Siew-Kee Low Krina T Zondervan Grant W Montgomery Dale R Nyholt David A van Heel Karen Hunt Dan E Arking Foram N Ashar Nona Sotoodehnia Daniel Woo Jonathan Rosand Mary E Comeau W Mark Brown Edwin K Silverman John E Hokanson Michael H Cho Jennie Hui Manuel A Ferreira Philip J Thompson Alanna C Morrison Janine F Felix Nicholas L Smith Angela M Christiano Lynn Petukhova Regina C Betz Xing Fan Xuejun Zhang Caihong Zhu Carl D Langefeld Susan D Thompson Feijie Wang Xu Lin David A Schwartz Tasha Fingerlin Jerome I Rotter Mary Frances Cotch Richard A Jensen Matthias Munz Henrik Dommisch Arne S Schaefer Fang Han Hanna M Ollila Ryan P Hillary Omar Albagha Stuart H Ralston Chenjie Zeng Wei Zheng Xiao-Ou Shu Andre Reis Steffen Uebe Ulrike Hüffmeier Yoshiya Kawamura Takeshi Otowa Tsukasa Sasaki Martin Lloyd Hibberd Sonia Davila Gang Xie Katherine Siminovitch Jin-Xin Bei Yi-Xin Zeng Asta Försti Bowang Chen Stefano Landi Andre Franke Annegret Fischer David Ellinghaus Carlos Flores Imre Noth Shwu-Fan Ma Jia Nee Foo Jianjun Liu Jong-Won Kim David G Cox Olivier Delattre Olivier Mirabeau Christine F Skibola Clara S Tang Merce Garcia-Barcelo Kai-Ping Chang Wen-Hui Su Yu-Sun Chang Nicholas G Martin Scott Gordon Tracey D Wade Chaeyoung Lee Michiaki Kubo Pei-Chieng Cha Yusuke Nakamura Daniel Levy Masayuki Kimura Shih-Jen Hwang Steven Hunt Tim Spector Nicole Soranzo Ani W Manichaikul R Graham Barr Bratati Kahali Elizabeth Speliotes Laura M Yerges-Armstrong Ching-Yu Cheng Jost B Jonas Tien Yin Wong Isabella Fogh Kuang Lin John F Powell Kenneth Rice Caroline L Relton Richard M Martin George Davey Smith

JAMA Oncol 2017 May;3(5):636-651

MRC Integrative Epidemiology Unit, University of Bristol, Bristol, England2School of Social and Community Medicine, University of Bristol, Bristol, England.

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http://dx.doi.org/10.1001/jamaoncol.2016.5945DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5638008PMC
May 2017

Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer.

Authors:
Catherine M Phelan Karoline B Kuchenbaecker Jonathan P Tyrer Siddhartha P Kar Kate Lawrenson Stacey J Winham Joe Dennis Ailith Pirie Marjorie J Riggan Ganna Chornokur Madalene A Earp Paulo C Lyra Janet M Lee Simon Coetzee Jonathan Beesley Lesley McGuffog Penny Soucy Ed Dicks Andrew Lee Daniel Barrowdale Julie Lecarpentier Goska Leslie Cora M Aalfs Katja K H Aben Marcia Adams Julian Adlard Irene L Andrulis Hoda Anton-Culver Natalia Antonenkova Gerasimos Aravantinos Norbert Arnold Banu K Arun Brita Arver Jacopo Azzollini Judith Balmaña Susana N Banerjee Laure Barjhoux Rosa B Barkardottir Yukie Bean Matthias W Beckmann Alicia Beeghly-Fadiel Javier Benitez Marina Bermisheva Marcus Q Bernardini Michael J Birrer Line Bjorge Amanda Black Kenneth Blankstein Marinus J Blok Clara Bodelon Natalia Bogdanova Anders Bojesen Bernardo Bonanni Åke Borg Angela R Bradbury James D Brenton Carole Brewer Louise Brinton Per Broberg Angela Brooks-Wilson Fiona Bruinsma Joan Brunet Bruno Buecher Ralf Butzow Saundra S Buys Trinidad Caldes Maria A Caligo Ian Campbell Rikki Cannioto Michael E Carney Terence Cescon Salina B Chan Jenny Chang-Claude Stephen Chanock Xiao Qing Chen Yoke-Eng Chiew Jocelyne Chiquette Wendy K Chung Kathleen B M Claes Thomas Conner Linda S Cook Jackie Cook Daniel W Cramer Julie M Cunningham Aimee A D'Aloisio Mary B Daly Francesca Damiola Sakaeva Dina Damirovna Agnieszka Dansonka-Mieszkowska Fanny Dao Rosemarie Davidson Anna DeFazio Capucine Delnatte Kimberly F Doheny Orland Diez Yuan Chun Ding Jennifer Anne Doherty Susan M Domchek Cecilia M Dorfling Thilo Dörk Laure Dossus Mercedes Duran Matthias Dürst Bernd Dworniczak Diana Eccles Todd Edwards Ros Eeles Ursula Eilber Bent Ejlertsen Arif B Ekici Steve Ellis Mingajeva Elvira Kevin H Eng Christoph Engel D Gareth Evans Peter A Fasching Sarah Ferguson Sandra Fert Ferrer James M Flanagan Zachary C Fogarty Renée T Fortner Florentia Fostira William D Foulkes George Fountzilas Brooke L Fridley Tara M Friebel Eitan Friedman Debra Frost Patricia A Ganz Judy Garber María J García Vanesa Garcia-Barberan Andrea Gehrig Aleksandra Gentry-Maharaj Anne-Marie Gerdes Graham G Giles Rosalind Glasspool Gord Glendon Andrew K Godwin David E Goldgar Teodora Goranova Martin Gore Mark H Greene Jacek Gronwald Stephen Gruber Eric Hahnen Christopher A Haiman Niclas Håkansson Ute Hamann Thomas V O Hansen Patricia A Harrington Holly R Harris Jan Hauke Alexander Hein Alex Henderson Michelle A T Hildebrandt Peter Hillemanns Shirley Hodgson Claus K Høgdall Estrid Høgdall Frans B L Hogervorst Helene Holland Maartje J Hooning Karen Hosking Ruea-Yea Huang Peter J Hulick Jillian Hung David J Hunter David G Huntsman Tomasz Huzarski Evgeny N Imyanitov Claudine Isaacs Edwin S Iversen Louise Izatt Angel Izquierdo Anna Jakubowska Paul James Ramunas Janavicius Mats Jernetz Allan Jensen Uffe Birk Jensen Esther M John Sharon Johnatty Michael E Jones Päivi Kannisto Beth Y Karlan Anthony Karnezis Karin Kast Catherine J Kennedy Elza Khusnutdinova Lambertus A Kiemeney Johanna I Kiiski Sung-Won Kim Susanne K Kjaer Martin Köbel Reidun K Kopperud Torben A Kruse Jolanta Kupryjanczyk Ava Kwong Yael Laitman Diether Lambrechts Nerea Larrañaga Melissa C Larson Conxi Lazaro Nhu D Le Loic Le Marchand Jong Won Lee Shashikant B Lele Arto Leminen Dominique Leroux Jenny Lester Fabienne Lesueur Douglas A Levine Dong Liang Clemens Liebrich Jenna Lilyquist Loren Lipworth Jolanta Lissowska Karen H Lu Jan Lubinński Craig Luccarini Lene Lundvall Phuong L Mai Gustavo Mendoza-Fandiño Siranoush Manoukian Leon F A G Massuger Taymaa May Sylvie Mazoyer Jessica N McAlpine Valerie McGuire John R McLaughlin Iain McNeish Hanne Meijers-Heijboer Alfons Meindl Usha Menon Arjen R Mensenkamp Melissa A Merritt Roger L Milne Gillian Mitchell Francesmary Modugno Joanna Moes-Sosnowska Melissa Moffitt Marco Montagna Kirsten B Moysich Anna Marie Mulligan Jacob Musinsky Katherine L Nathanson Lotte Nedergaard Roberta B Ness Susan L Neuhausen Heli Nevanlinna Dieter Niederacher Robert L Nussbaum Kunle Odunsi Edith Olah Olufunmilayo I Olopade Håkan Olsson Curtis Olswold David M O'Malley Kai-Ren Ong N Charlotte Onland-Moret Nicholas Orr Sandra Orsulic Ana Osorio Domenico Palli Laura Papi Tjoung-Won Park-Simon James Paul Celeste L Pearce Inge Søkilde Pedersen Petra H M Peeters Bernard Peissel Ana Peixoto Tanja Pejovic Liisa M Pelttari Jennifer B Permuth Paolo Peterlongo Lidia Pezzani Georg Pfeiler Kelly-Anne Phillips Marion Piedmonte Malcolm C Pike Anna M Piskorz Samantha R Poblete Timea Pocza Elizabeth M Poole Bruce Poppe Mary E Porteous Fabienne Prieur Darya Prokofyeva Elizabeth Pugh Miquel Angel Pujana Pascal Pujol Paolo Radice Johanna Rantala Christine Rappaport-Fuerhauser Gad Rennert Kerstin Rhiem Patricia Rice Andrea Richardson Mark Robson Gustavo C Rodriguez Cristina Rodríguez-Antona Jane Romm Matti A Rookus Mary Anne Rossing Joseph H Rothstein Anja Rudolph Ingo B Runnebaum Helga B Salvesen Dale P Sandler Minouk J Schoemaker Leigha Senter V Wendy Setiawan Gianluca Severi Priyanka Sharma Tameka Shelford Nadeem Siddiqui Lucy E Side Weiva Sieh Christian F Singer Hagay Sobol Honglin Song Melissa C Southey Amanda B Spurdle Zsofia Stadler Doris Steinemann Dominique Stoppa-Lyonnet Lara E Sucheston-Campbell Grzegorz Sukiennicki Rebecca Sutphen Christian Sutter Anthony J Swerdlow Csilla I Szabo Lukasz Szafron Yen Y Tan Jack A Taylor Muy-Kheng Tea Manuel R Teixeira Soo-Hwang Teo Kathryn L Terry Pamela J Thompson Liv Cecilie Vestrheim Thomsen Darcy L Thull Laima Tihomirova Anna V Tinker Marc Tischkowitz Silvia Tognazzo Amanda Ewart Toland Alicia Tone Britton Trabert Ruth C Travis Antonia Trichopoulou Nadine Tung Shelley S Tworoger Anne M van Altena David Van Den Berg Annemarie H van der Hout Rob B van der Luijt Mattias Van Heetvelde Els Van Nieuwenhuysen Elizabeth J van Rensburg Adriaan Vanderstichele Raymonda Varon-Mateeva Ana Vega Digna Velez Edwards Ignace Vergote Robert A Vierkant Joseph Vijai Athanassios Vratimos Lisa Walker Christine Walsh Dorothea Wand Shan Wang-Gohrke Barbara Wappenschmidt Penelope M Webb Clarice R Weinberg Jeffrey N Weitzel Nicolas Wentzensen Alice S Whittemore Juul T Wijnen Lynne R Wilkens Alicja Wolk Michelle Woo Xifeng Wu Anna H Wu Hannah Yang Drakoulis Yannoukakos Argyrios Ziogas Kristin K Zorn Steven A Narod Douglas F Easton Christopher I Amos Joellen M Schildkraut Susan J Ramus Laura Ottini Marc T Goodman Sue K Park Linda E Kelemen Harvey A Risch Mads Thomassen Kenneth Offit Jacques Simard Rita Katharina Schmutzler Dennis Hazelett Alvaro N Monteiro Fergus J Couch Andrew Berchuck Georgia Chenevix-Trench Ellen L Goode Thomas A Sellers Simon A Gayther Antonis C Antoniou Paul D P Pharoah

Nat Genet 2017 May 27;49(5):680-691. Epub 2017 Mar 27.

Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Strangeways Research Laboratory, Cambridge, UK.

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http://dx.doi.org/10.1038/ng.3826DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5612337PMC
May 2017

The Association of Variation with Circulating Estradiol and Aromatase Inhibitor Outcome: Can Variants Be Used to Predict Treatment Efficacy?

Front Pharmacol 2017 25;8:218. Epub 2017 Apr 25.

Molecular Cancer Epidemiology, Department of Genetics and Computational Biology, QIMR Berghofer Medical Research InstituteBrisbane, QLD, Australia.

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http://dx.doi.org/10.3389/fphar.2017.00218DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5403944PMC
April 2017

The OncoArray Consortium: A Network for Understanding the Genetic Architecture of Common Cancers.

Authors:
Christopher I Amos Joe Dennis Zhaoming Wang Jinyoung Byun Fredrick R Schumacher Simon A Gayther Graham Casey David J Hunter Thomas A Sellers Stephen B Gruber Alison M Dunning Kyriaki Michailidou Laura Fachal Kimberly Doheny Amanda B Spurdle Yafang Li Xiangjun Xiao Jane Romm Elizabeth Pugh Gerhard A Coetzee Dennis J Hazelett Stig E Bojesen Charlisse Caga-Anan Christopher A Haiman Ahsan Kamal Craig Luccarini Daniel Tessier Daniel Vincent François Bacot David J Van Den Berg Stefanie Nelson Stephen Demetriades David E Goldgar Fergus J Couch Judith L Forman Graham G Giles David V Conti Heike Bickeböller Angela Risch Melanie Waldenberger Irene Brüske-Hohlfeld Belynda D Hicks Hua Ling Lesley McGuffog Andrew Lee Karoline Kuchenbaecker Penny Soucy Judith Manz Julie M Cunningham Katja Butterbach Zsofia Kote-Jarai Peter Kraft Liesel FitzGerald Sara Lindström Marcia Adams James D McKay Catherine M Phelan Sara Benlloch Linda E Kelemen Paul Brennan Marjorie Riggan Tracy A O'Mara Hongbing Shen Yongyong Shi Deborah J Thompson Marc T Goodman Sune F Nielsen Andrew Berchuck Sylvie Laboissiere Stephanie L Schmit Tameka Shelford Christopher K Edlund Jack A Taylor John K Field Sue K Park Kenneth Offit Mads Thomassen Rita Schmutzler Laura Ottini Rayjean J Hung Jonathan Marchini Ali Amin Al Olama Ulrike Peters Rosalind A Eeles Michael F Seldin Elizabeth Gillanders Daniela Seminara Antonis C Antoniou Paul D P Pharoah Georgia Chenevix-Trench Stephen J Chanock Jacques Simard Douglas F Easton

Cancer Epidemiol Biomarkers Prev 2017 01 3;26(1):126-135. Epub 2016 Oct 3.

Centre for Cancer Genetic Epidemiology, University of Cambridge, Cambridge, United Kingdom.

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http://dx.doi.org/10.1158/1055-9965.EPI-16-0106DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5224974PMC
January 2017

Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression: identification of a modifier of breast cancer risk at locus 11q22.3.

Authors:
Yosr Hamdi Penny Soucy Karoline B Kuchenbaeker Tomi Pastinen Arnaud Droit Audrey Lemaçon Julian Adlard Kristiina Aittomäki Irene L Andrulis Adalgeir Arason Norbert Arnold Banu K Arun Jacopo Azzollini Anita Bane Laure Barjhoux Daniel Barrowdale Javier Benitez Pascaline Berthet Marinus J Blok Kristie Bobolis Valérie Bonadona Bernardo Bonanni Angela R Bradbury Carole Brewer Bruno Buecher Saundra S Buys Maria A Caligo Jocelyne Chiquette Wendy K Chung Kathleen B M Claes Mary B Daly Francesca Damiola Rosemarie Davidson Miguel De la Hoya Kim De Leeneer Orland Diez Yuan Chun Ding Riccardo Dolcetti Susan M Domchek Cecilia M Dorfling Diana Eccles Ros Eeles Zakaria Einbeigi Bent Ejlertsen Christoph Engel D Gareth Evans Lidia Feliubadalo Lenka Foretova Florentia Fostira William D Foulkes George Fountzilas Eitan Friedman Debra Frost Pamela Ganschow Patricia A Ganz Judy Garber Simon A Gayther Anne-Marie Gerdes Gord Glendon Andrew K Godwin David E Goldgar Mark H Greene Jacek Gronwald Eric Hahnen Ute Hamann Thomas V O Hansen Steven Hart John L Hays Frans B L Hogervorst Peter J Hulick Evgeny N Imyanitov Claudine Isaacs Louise Izatt Anna Jakubowska Paul James Ramunas Janavicius Uffe Birk Jensen Esther M John Vijai Joseph Walter Just Katarzyna Kaczmarek Beth Y Karlan Carolien M Kets Judy Kirk Mieke Kriege Yael Laitman Maïté Laurent Conxi Lazaro Goska Leslie Jenny Lester Fabienne Lesueur Annelie Liljegren Niklas Loman Jennifer T Loud Siranoush Manoukian Milena Mariani Sylvie Mazoyer Lesley McGuffog Hanne E J Meijers-Heijboer Alfons Meindl Austin Miller Marco Montagna Anna Marie Mulligan Katherine L Nathanson Susan L Neuhausen Heli Nevanlinna Robert L Nussbaum Edith Olah Olufunmilayo I Olopade Kai-Ren Ong Jan C Oosterwijk Ana Osorio Laura Papi Sue Kyung Park Inge Sokilde Pedersen Bernard Peissel Pedro Perez Segura Paolo Peterlongo Catherine M Phelan Paolo Radice Johanna Rantala Christine Rappaport-Fuerhauser Gad Rennert Andrea Richardson Mark Robson Gustavo C Rodriguez Matti A Rookus Rita Katharina Schmutzler Nicolas Sevenet Payal D Shah Christian F Singer Thomas P Slavin Katie Snape Johanna Sokolowska Ida Marie Heeholm Sønderstrup Melissa Southey Amanda B Spurdle Zsofia Stadler Dominique Stoppa-Lyonnet Grzegorz Sukiennicki Christian Sutter Yen Tan Muy-Kheng Tea Manuel R Teixeira Alex Teulé Soo-Hwang Teo Mary Beth Terry Mads Thomassen Laima Tihomirova Marc Tischkowitz Silvia Tognazzo Amanda Ewart Toland Nadine Tung Ans M W van den Ouweland Rob B van der Luijt Klaartje van Engelen Elizabeth J van Rensburg Raymonda Varon-Mateeva Barbara Wappenschmidt Juul T Wijnen Timothy Rebbeck Georgia Chenevix-Trench Kenneth Offit Fergus J Couch Silje Nord Douglas F Easton Antonis C Antoniou Jacques Simard

Breast Cancer Res Treat 2017 01 28;161(1):117-134. Epub 2016 Oct 28.

Genomics Center, Centre Hospitalier Universitaire de Québec Research Center and Laval University, 2705 Laurier Boulevard, Quebec, QC, G1V 4G2, Canada.

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http://dx.doi.org/10.1007/s10549-016-4018-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5222911PMC
January 2017

Response.

J Natl Cancer Inst 2016 12 31;108(12). Epub 2016 Aug 31.

Molecular Cancer Epidemiology Laboratory, QIMR Berghofer Medical Research Institute, Brisbane, Australia (ABS); Basser Center, Abramson Cancer Center, Perelman School of Medicine, University of Pennsylvania, PA (SD); Department of Medicine, Memorial Sloan-Kettering Cancer Center, New York, NY (MR); Department of Medicine (SB) and Department of Dermatology (DEG), Huntsman Cancer Institute, University of Utah School of Medicine, Salt Lake City, UT; Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Preventive and Predictive Medicine, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan, Italy (PR); Molecular Oncology Laboratory, Hospital Clinico San Carlos, IdISSC (Instituto de Investigacion Sanitaria del Hospital Clinico San Carlos), Madrid, Spain (MdlH); Department of Human Genetics and Department of Cancer Epidemiology, Leiden University Medical Center, Leiden, the Netherlands (PD); Department of Cancer Epidemiology, Moffitt Cancer Center, Tampa, FL (ANAM); Department of Pathology, the University of Melbourne, Melbourne, Victoria, Australia (MS); Faculty of Medicine, University of Southampton, Southampton, UK (DE); Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN (FJC).

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http://dx.doi.org/10.1093/jnci/djw173DOI Listing
December 2016

PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS.

Authors:
Melissa C Southey David E Goldgar Robert Winqvist Katri Pylkäs Fergus Couch Marc Tischkowitz William D Foulkes Joe Dennis Kyriaki Michailidou Elizabeth J van Rensburg Tuomas Heikkinen Heli Nevanlinna John L Hopper Thilo Dörk Kathleen Bm Claes Jorge Reis-Filho Zhi Ling Teo Paolo Radice Irene Catucci Paolo Peterlongo Helen Tsimiklis Fabrice A Odefrey James G Dowty Marjanka K Schmidt Annegien Broeks Frans B Hogervorst Senno Verhoef Jane Carpenter Christine Clarke Rodney J Scott Peter A Fasching Lothar Haeberle Arif B Ekici Matthias W Beckmann Julian Peto Isabel Dos-Santos-Silva Olivia Fletcher Nichola Johnson Manjeet K Bolla Elinor J Sawyer Ian Tomlinson Michael J Kerin Nicola Miller Federik Marme Barbara Burwinkel Rongxi Yang Pascal Guénel Thérèse Truong Florence Menegaux Marie Sanchez Stig Bojesen Sune F Nielsen Henrik Flyger Javier Benitez M Pilar Zamora Jose Ignacio Arias Perez Primitiva Menéndez Hoda Anton-Culver Susan Neuhausen Argyrios Ziogas Christina A Clarke Hermann Brenner Volker Arndt Christa Stegmaier Hiltrud Brauch Thomas Brüning Yon-Dschun Ko Taru A Muranen Kristiina Aittomäki Carl Blomqvist Natalia V Bogdanova Natalia N Antonenkova Annika Lindblom Sara Margolin Arto Mannermaa Vesa Kataja Veli-Matti Kosma Jaana M Hartikainen Amanda B Spurdle kConFab Investigators Els Wauters Dominiek Smeets Benoit Beuselinck Giuseppe Floris Jenny Chang-Claude Anja Rudolph Petra Seibold Dieter Flesch-Janys Janet E Olson Celine Vachon Vernon S Pankratz Catriona McLean Christopher A Haiman Brian E Henderson Fredrick Schumacher Loic Le Marchand Vessela Kristensen Grethe Grenaker Alnæs Wei Zheng David J Hunter Sara Lindstrom Susan E Hankinson Peter Kraft Irene Andrulis Julia A Knight Gord Glendon Anna Marie Mulligan Arja Jukkola-Vuorinen Mervi Grip Saila Kauppila Peter Devilee Robert A E M Tollenaar Caroline Seynaeve Antoinette Hollestelle Montserrat Garcia-Closas Jonine Figueroa Stephen J Chanock Jolanta Lissowska Kamila Czene Hatef Darabi Mikael Eriksson Diana M Eccles Sajjad Rafiq William J Tapper Sue M Gerty Maartje J Hooning John W M Martens J Margriet Collée Madeleine Tilanus-Linthorst Per Hall Jingmei Li Judith S Brand Keith Humphreys Angela Cox Malcolm W R Reed Craig Luccarini Caroline Baynes Alison M Dunning Ute Hamann Diana Torres Hans Ulrich Ulmer Thomas Rüdiger Anna Jakubowska Jan Lubinski Katarzyna Jaworska Katarzyna Durda Susan Slager Amanda E Toland Christine B Ambrosone Drakoulis Yannoukakos Anthony Swerdlow Alan Ashworth Nick Orr Michael Jones Anna González-Neira Guillermo Pita M Rosario Alonso Nuria Álvarez Daniel Herrero Daniel C Tessier Daniel Vincent Francois Bacot Jacques Simard Martine Dumont Penny Soucy Rosalind Eeles Kenneth Muir Fredrik Wiklund Henrik Gronberg Johanna Schleutker Børge G Nordestgaard Maren Weischer Ruth C Travis David Neal Jenny L Donovan Freddie C Hamdy Kay-Tee Khaw Janet L Stanford William J Blot Stephen Thibodeau Daniel J Schaid Joseph L Kelley Christiane Maier Adam S Kibel Cezary Cybulski Lisa Cannon-Albright Katja Butterbach Jong Park Radka Kaneva Jyotsna Batra Manuel R Teixeira Zsofia Kote-Jarai Ali Amin Al Olama Sara Benlloch Stefan P Renner Arndt Hartmann Alexander Hein Matthias Ruebner Diether Lambrechts Els Van Nieuwenhuysen Ignace Vergote Sandrina Lambretchs Jennifer A Doherty Mary Anne Rossing Stefan Nickels Ursula Eilber Shan Wang-Gohrke Kunle Odunsi Lara E Sucheston-Campbell Grace Friel Galina Lurie Jeffrey L Killeen Lynne R Wilkens Marc T Goodman Ingo Runnebaum Peter A Hillemanns Liisa M Pelttari Ralf Butzow Francesmary Modugno Robert P Edwards Roberta B Ness Kirsten B Moysich Andreas du Bois Florian Heitz Philipp Harter Stefan Kommoss Beth Y Karlan Christine Walsh Jenny Lester Allan Jensen Susanne Krüger Kjaer Estrid Høgdall Bernard Peissel Bernardo Bonanni Loris Bernard Ellen L Goode Brooke L Fridley Robert A Vierkant Julie M Cunningham Melissa C Larson Zachary C Fogarty Kimberly R Kalli Dong Liang Karen H Lu Michelle A T Hildebrandt Xifeng Wu Douglas A Levine Fanny Dao Maria Bisogna Andrew Berchuck Edwin S Iversen Jeffrey R Marks Lucy Akushevich Daniel W Cramer Joellen Schildkraut Kathryn L Terry Elizabeth M Poole Meir Stampfer Shelley S Tworoger Elisa V Bandera Irene Orlow Sara H Olson Line Bjorge Helga B Salvesen Anne M van Altena Katja K H Aben Lambertus A Kiemeney Leon F A G Massuger Tanja Pejovic Yukie Bean Angela Brooks-Wilson Linda E Kelemen Linda S Cook Nhu D Le Bohdan Górski Jacek Gronwald Janusz Menkiszak Claus K Høgdall Lene Lundvall Lotte Nedergaard Svend Aage Engelholm Ed Dicks Jonathan Tyrer Ian Campbell Iain McNeish James Paul Nadeem Siddiqui Rosalind Glasspool Alice S Whittemore Joseph H Rothstein Valerie McGuire Weiva Sieh Hui Cai Xiao-Ou Shu Rachel T Teten Rebecca Sutphen John R McLaughlin Steven A Narod Catherine M Phelan Alvaro N Monteiro David Fenstermacher Hui-Yi Lin Jennifer B Permuth Thomas A Sellers Y Ann Chen Ya-Yu Tsai Zhihua Chen Aleksandra Gentry-Maharaj Simon A Gayther Susan J Ramus Usha Menon Anna H Wu Celeste L Pearce David Van Den Berg Malcolm C Pike Agnieszka Dansonka-Mieszkowska Joanna Plisiecka-Halasa Joanna Moes-Sosnowska Jolanta Kupryjanczyk Paul Dp Pharoah Honglin Song Ingrid Winship Georgia Chenevix-Trench Graham G Giles Sean V Tavtigian Doug F Easton Roger L Milne

J Med Genet 2016 12 5;53(12):800-811. Epub 2016 Sep 5.

Centre for Epidemiology and Biostatistics, School of Population and Global Health, The University of Melbourne, Melbourne, Australia.

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http://dx.doi.org/10.1136/jmedgenet-2016-103839DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5200636PMC
December 2016

Genetic Risk Score Mendelian Randomization Shows that Obesity Measured as Body Mass Index, but not Waist:Hip Ratio, Is Causal for Endometrial Cancer.

Cancer Epidemiol Biomarkers Prev 2016 11 22;25(11):1503-1510. Epub 2016 Aug 22.

Department of Public Health and Primary Care, Centre for Cancer Genetic Epidemiology, University of Cambridge, Cambridge, United Kingdom.

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http://dx.doi.org/10.1158/1055-9965.EPI-16-0147DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5093082PMC
November 2016

Meta-analysis of gene expression studies in endometrial cancer identifies gene expression profiles associated with aggressive disease and patient outcome.

Sci Rep 2016 11 10;6:36677. Epub 2016 Nov 10.

Genetics and Computational Biology Department, QIMR Berghofer Medical Research Institute, Herston, QLD 4006, Australia.

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http://dx.doi.org/10.1038/srep36677DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5103206PMC
November 2016

Age- and Tumor Subtype-Specific Breast Cancer Risk Estimates for CHEK2*1100delC Carriers.

J Clin Oncol 2016 08 6;34(23):2750-60. Epub 2016 Jun 6.

Marjanka K. Schmidt, Frans Hogervorst, Richard van Hien, Sten Cornelissen, Annegien Broeks, and Lizet van der Kolk, Netherlands Cancer Institute, Antoni van Leeuwenhoek Hospital; Muriel A. Adank, Hanne Meijers, and Quinten Waisfisz, VU University Medical Center, Amsterdam; Antoinette Hollestelle, Mieke Schutte, Maartje Hooning, and Caroline Seynaeve, Erasmus MC Cancer Institute; Ans van den Ouweland, Erasmus University Medical Center, Rotterdam; Rob A.E.M. Tollenaar, Leiden University Medical Center, Leiden, the Netherlands; Irene L. Andrulis and Julia A. Knight, Lunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital; Irene L. Andrulis and Julia A. Knight, University of Toronto, Toronto, Ontario, Canada; Hoda Anton-Culver and Argyrios Ziogas, University of California, Irvine; Peter A. Fasching, David Geffen School of Medicine, University of California, Los Angeles; Esther M. John, Cancer Prevention Institute of California, Fremont; Esther M. John, Alice S. Whittemore, Stanford University School of Medicine, Stanford, CA; Natalia N. Antonenkova, N.N. Alexandrov Research Institute of Oncology and Medical Radiology, Minsk, Belarus; Antonis C. Antoniou, Manjeet K. Bolla, Andrew Lee, Alison M. Dunning, Paul D.P. Pharoah, Qin Wang, and Douglas F. Easton, University of Cambridge, Cambridge; Angela Cox and Simon S. Cross, University of Sheffield, Sheffield; Olivia Fletcher, Michael Jones, and Anthony Swerdlow, The Institute of Cancer Research; Julian Peto, London School of Hygiene and Tropical Medicine; Elinor J. Sawyer, King's College London, London; Jonine Figueroa, University of Edinburgh Medical School, Edinburgh; Ian Tomlinson, University of Oxford, Oxford, United Kingdom; Volker Arndt, Hiltrud Brauch, Hermann Brenner, Barbara Burwinkel, Jenny Chang-Claude, Anja Rudolph, Harold Surowy, German Cancer Research Center; Barbara Burwinkel and Harald Surowy, University of Heidelberg, Heidelberg; Natalia V. Bogdanova, Peter Hillemanns, Tjoung-Won Park-Simon, and Thilo

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http://dx.doi.org/10.1200/JCO.2016.66.5844DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5019754PMC
August 2016

GWAS meta-analysis of 16 852 women identifies new susceptibility locus for endometrial cancer.

Hum Mol Genet 2016 06 23;25(12):2612-2620. Epub 2016 Mar 23.

Program in Genetic Epidemiology and Statistical Genetics, Department of Epidemiology, Harvard TH Chan School of Public Health, Boston, MA 02115, USA,

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http://hmg.oxfordjournals.org/content/early/2016/04/23/hmg.d
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http://www.hmg.oxfordjournals.org/lookup/doi/10.1093/hmg/ddw
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http://dx.doi.org/10.1093/hmg/ddw092DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5868213PMC
June 2016

Five endometrial cancer risk loci identified through genome-wide association analysis.

Nat Genet 2016 06 2;48(6):667-674. Epub 2016 May 2.

Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.

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http://dx.doi.org/10.1038/ng.3562DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4907351PMC
June 2016

Combined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms.

Hum Mol Genet 2016 06 23;25(11):2256-2268. Epub 2016 Mar 23.

Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, QLD 4006, Australia

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http://hmg.oxfordjournals.org/content/early/2016/03/23/hmg.d
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http://www.hmg.oxfordjournals.org/lookup/doi/10.1093/hmg/ddw
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http://dx.doi.org/10.1093/hmg/ddw094DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5081057PMC
June 2016

Point Mutations in Exon 1B of APC Reveal Gastric Adenocarcinoma and Proximal Polyposis of the Stomach as a Familial Adenomatous Polyposis Variant.

Am J Hum Genet 2016 05 14;98(5):830-842. Epub 2016 Apr 14.

Department of Genetics and Computational Biology, QIMR Berghofer, Herston, QLD 4029, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2016.03.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4863475PMC
May 2016

Letter to the editor re: "Women with double primary cancers of the colorectum and endometrium: do they have Lynch syndrome?" from T. Song and colleagues.

Eur J Obstet Gynecol Reprod Biol 2016 Mar 2;198:153-155. Epub 2015 Dec 2.

Molecular Cancer Epidemiology Laboratory, Genetics and Computational Biology Division, QIMR Berghofer Medical Research Institute, 300 Herston Rd, Herston 4006, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.ejogrb.2015.11.029DOI Listing
March 2016

CYP19A1 fine-mapping and Mendelian randomization: estradiol is causal for endometrial cancer.

Endocr Relat Cancer 2016 Feb 16;23(2):77-91. Epub 2015 Nov 16.

Department of Public Health and Primary CareCentre for Cancer Genetic Epidemiology, University of Cambridge, Strangeways Research Laboratory, Worts Causeway, Cambridge, Cambridge CB1 8RN, UKDepartment of Genetics and Computational BiologyQIMR Berghofer Medical Research Institute, Brisbane, Queensland, 4006, AustraliaWellcome Trust Centre for Human GeneticsUniversity of Oxford, Oxford OX3 7BN, UKAcademic Department of BiochemistryRoyal Marsden Hospital, London SW3 6JJ, UKDepartment of Clinical GeneticsSt George's Hospital Medical School, London SW17 0RE, UKDepartment of OncologyCentre for Cancer Genetic Epidemiology, University of Cambridge, Cambridge CB1 8RN, UKDepartment of Medical Epidemiology and BiostatisticsKarolinska Institutet, Stockholm SE-171 77, SwedenDepartment of MedicineDivision of Hematology/Oncology, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, California 90095, USADepartment of Gynecology and ObstetricsUniversity Hospital Erlangen, Friedrich-Alexander-University Erlangen-Nuremberg, Erlangen 91054, GermanyInstitute of Human GeneticsUniversity Hospital Erlangen, Friedrich-Alexander-University Erlangen-Nuremberg, Erlangen 91054, GermanyGynaecology Research UnitHannover Medical School, Hannover 30625, GermanyClinics of Gynaecology and ObstetricsHannover Medical School, Hannover 30625, GermanyDepartment of GynaecologyJena University Hospital - Friedrich Schiller University, Jena 07743, GermanyVesalius Research CenterLeuven 3000, BelgiumLaboratory for Translational GeneticsDepartment of Oncology, University Hospitals Leuven, Leuven 3000, BelgiumDepartment of Obstetrics and GynecologyDivision of Gynecologic Oncology, University Hospitals, KU Leuven - University of Leuven, Leuven 3000, BelgiumDepartment of Health Sciences ResearchMayo Clinic, Rochester, Minnesota 55905, USADepartment of BiostatisticsUniversity of Kansas Medical Center, Kansas City, Kansas 66160, USADepartment of Obstetrics and GynecologyDivision of G

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http://dx.doi.org/10.1530/ERC-15-0386DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4697192PMC
February 2016

BRCA2 Polymorphic Stop Codon K3326X and the Risk of Breast, Prostate, and Ovarian Cancers.

Authors:
Huong D Meeks Honglin Song Kyriaki Michailidou Manjeet K Bolla Joe Dennis Qin Wang Daniel Barrowdale Debra Frost Lesley McGuffog Steve Ellis Bingjian Feng Saundra S Buys John L Hopper Melissa C Southey Andrea Tesoriero Paul A James Fiona Bruinsma Ian G Campbell Annegien Broeks Marjanka K Schmidt Frans B L Hogervorst Matthias W Beckman Peter A Fasching Olivia Fletcher Nichola Johnson Elinor J Sawyer Elio Riboli Susana Banerjee Usha Menon Ian Tomlinson Barbara Burwinkel Ute Hamann Frederik Marme Anja Rudolph Ramunas Janavicius Laima Tihomirova Nadine Tung Judy Garber Daniel Cramer Kathryn L Terry Elizabeth M Poole Shelley S Tworoger Cecilia M Dorfling Elizabeth J van Rensburg Andrew K Godwin Pascal Guénel Thérèse Truong Dominique Stoppa-Lyonnet Francesca Damiola Sylvie Mazoyer Olga M Sinilnikova Claudine Isaacs Christine Maugard Stig E Bojesen Henrik Flyger Anne-Marie Gerdes Thomas V O Hansen Allen Jensen Susanne K Kjaer Claus Hogdall Estrid Hogdall Inge Sokilde Pedersen Mads Thomassen Javier Benitez Anna González-Neira Ana Osorio Miguel de la Hoya Pedro Perez Segura Orland Diez Conxi Lazaro Joan Brunet Hoda Anton-Culver Lee Eunjung Esther M John Susan L Neuhausen Yuan Chun Ding Danielle Castillo Jeffrey N Weitzel Patricia A Ganz Robert L Nussbaum Salina B Chan Beth Y Karlan Jenny Lester Anna Wu Simon Gayther Susan J Ramus Weiva Sieh Alice S Whittermore Alvaro N A Monteiro Catherine M Phelan Mary Beth Terry Marion Piedmonte Kenneth Offit Mark Robson Douglas Levine Kirsten B Moysich Rikki Cannioto Sara H Olson Mary B Daly Katherine L Nathanson Susan M Domchek Karen H Lu Dong Liang Michelle A T Hildebrant Roberta Ness Francesmary Modugno Leigh Pearce Marc T Goodman Pamela J Thompson Hermann Brenner Katja Butterbach Alfons Meindl Eric Hahnen Barbara Wappenschmidt Hiltrud Brauch Thomas Brüning Carl Blomqvist Sofia Khan Heli Nevanlinna Liisa M Pelttari Kristiina Aittomäki Ralf Butzow Natalia V Bogdanova Thilo Dörk Annika Lindblom Sara Margolin Johanna Rantala Veli-Matti Kosma Arto Mannermaa Diether Lambrechts Patrick Neven Kathleen B M Claes Tom Van Maerken Jenny Chang-Claude Dieter Flesch-Janys Florian Heitz Raymonda Varon-Mateeva Paolo Peterlongo Paolo Radice Alessandra Viel Monica Barile Bernard Peissel Siranoush Manoukian Marco Montagna Cristina Oliani Ana Peixoto Manuel R Teixeira Anita Collavoli Emily Hallberg Janet E Olson Ellen L Goode Steven N Hart Hermela Shimelis Julie M Cunningham Graham G Giles Roger L Milne Sue Healey Kathy Tucker Christopher A Haiman Brian E Henderson Mark S Goldberg Marc Tischkowitz Jacques Simard Penny Soucy Diana M Eccles Nhu Le Anne-Lise Borresen-Dale Vessela Kristensen Helga B Salvesen Line Bjorge Elisa V Bandera Harvey Risch Wei Zheng Alicia Beeghly-Fadiel Hui Cai Katri Pylkäs Robert A E M Tollenaar Ans M W van der Ouweland Irene L Andrulis Julia A Knight Steven Narod Peter Devilee Robert Winqvist Jonine Figueroa Mark H Greene Phuong L Mai Jennifer T Loud Montserrat García-Closas Minouk J Schoemaker Kamila Czene Hatef Darabi Iain McNeish Nadeem Siddiquil Rosalind Glasspool Ava Kwong Sue K Park Soo Hwang Teo Sook-Yee Yoon Keitaro Matsuo Satoyo Hosono Yin Ling Woo Yu-Tang Gao Lenka Foretova Christian F Singer Christine Rappaport-Feurhauser Eitan Friedman Yael Laitman Gad Rennert Evgeny N Imyanitov Peter J Hulick Olufunmilayo I Olopade Leigha Senter Edith Olah Jennifer A Doherty Joellen Schildkraut Linetta B Koppert Lambertus A Kiemeney Leon F A G Massuger Linda S Cook Tanja Pejovic Jingmei Li Ake Borg Anna Öfverholm Mary Anne Rossing Nicolas Wentzensen Karin Henriksson Angela Cox Simon S Cross Barbara J Pasini Mitul Shah Maria Kabisch Diana Torres Anna Jakubowska Jan Lubinski Jacek Gronwald Bjarni A Agnarsson Jolanta Kupryjanczyk Joanna Moes-Sosnowska Florentia Fostira Irene Konstantopoulou Susan Slager Michael Jones Antonis C Antoniou Andrew Berchuck Anthony Swerdlow Georgia Chenevix-Trench Alison M Dunning Paul D P Pharoah Per Hall Douglas F Easton Fergus J Couch Amanda B Spurdle David E Goldgar

Assessing associations between the AURKA-HMMR-TPX2-TUBG1 functional module and breast cancer risk in BRCA1/2 mutation carriers.

Authors:
Ignacio Blanco Karoline Kuchenbaecker Daniel Cuadras Xianshu Wang Daniel Barrowdale Gorka Ruiz de Garibay Pablo Librado Alejandro Sánchez-Gracia Julio Rozas Núria Bonifaci Lesley McGuffog Vernon S Pankratz Abul Islam Francesca Mateo Antoni Berenguer Anna Petit Isabel Català Joan Brunet Lidia Feliubadaló Eva Tornero Javier Benítez Ana Osorio Teresa Ramón y Cajal Heli Nevanlinna Kristiina Aittomäki Banu K Arun Amanda E Toland Beth Y Karlan Christine Walsh Jenny Lester Mark H Greene Phuong L Mai Robert L Nussbaum Irene L Andrulis Susan M Domchek Katherine L Nathanson Timothy R Rebbeck Rosa B Barkardottir Anna Jakubowska Jan Lubinski Katarzyna Durda Katarzyna Jaworska-Bieniek Kathleen Claes Tom Van Maerken Orland Díez Thomas V Hansen Lars Jønson Anne-Marie Gerdes Bent Ejlertsen Miguel de la Hoya Trinidad Caldés Alison M Dunning Clare Oliver Elena Fineberg Margaret Cook Susan Peock Emma McCann Alex Murray Chris Jacobs Gabriella Pichert Fiona Lalloo Carol Chu Huw Dorkins Joan Paterson Kai-Ren Ong Manuel R Teixeira Frans B L Hogervorst Annemarie H van der Hout Caroline Seynaeve Rob B van der Luijt Marjolijn J L Ligtenberg Peter Devilee Juul T Wijnen Matti A Rookus Hanne E J Meijers-Heijboer Marinus J Blok Ans M W van den Ouweland Cora M Aalfs Gustavo C Rodriguez Kelly-Anne A Phillips Marion Piedmonte Stacy R Nerenstone Victoria L Bae-Jump David M O'Malley Elena S Ratner Rita K Schmutzler Barbara Wappenschmidt Kerstin Rhiem Christoph Engel Alfons Meindl Nina Ditsch Norbert Arnold Hansjoerg J Plendl Dieter Niederacher Christian Sutter Shan Wang-Gohrke Doris Steinemann Sabine Preisler-Adams Karin Kast Raymonda Varon-Mateeva Andrea Gehrig Anders Bojesen Inge Sokilde Pedersen Lone Sunde Uffe Birk Jensen Mads Thomassen Torben A Kruse Lenka Foretova Paolo Peterlongo Loris Bernard Bernard Peissel Giulietta Scuvera Siranoush Manoukian Paolo Radice Laura Ottini Marco Montagna Simona Agata Christine Maugard Jacques Simard Penny Soucy Andreas Berger Anneliese Fink-Retter Christian F Singer Christine Rappaport Daphne Geschwantler-Kaulich Muy-Kheng Tea Georg Pfeiler Esther M John Alex Miron Susan L Neuhausen Mary Beth Terry Wendy K Chung Mary B Daly David E Goldgar Ramunas Janavicius Cecilia M Dorfling Elisabeth J van Rensburg Florentia Fostira Irene Konstantopoulou Judy Garber Andrew K Godwin Edith Olah Steven A Narod Gad Rennert Shani Shimon Paluch Yael Laitman Eitan Friedman Annelie Liljegren Johanna Rantala Marie Stenmark-Askmalm Niklas Loman Evgeny N Imyanitov Ute Hamann Amanda B Spurdle Sue Healey Jeffrey N Weitzel Josef Herzog David Margileth Chiara Gorrini Manel Esteller Antonio Gómez Sergi Sayols Enrique Vidal Holger Heyn Dominique Stoppa-Lyonnet Melanie Léoné Laure Barjhoux Marion Fassy-Colcombet Antoine de Pauw Christine Lasset Sandra Fert Ferrer Laurent Castera Pascaline Berthet François Cornelis Yves-Jean Bignon Francesca Damiola Sylvie Mazoyer Olga M Sinilnikova Christopher A Maxwell Joseph Vijai Mark Robson Noah Kauff Marina J Corines Danylko Villano Julie Cunningham Adam Lee Noralane Lindor Conxi Lázaro Douglas F Easton Kenneth Offit Georgia Chenevix-Trench Fergus J Couch Antonis C Antoniou Miguel Angel Pujana

PLoS One 2015 1;10(4):e0120020. Epub 2015 Apr 1.

Breast Cancer and Systems Biology Unit, Catalan Institute of Oncology (ICO), Bellvitge Institute for Biomedical Research (IDIBELL), L'Hospitalet del Llobregat, Catalonia, Spain.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4382299PMC
December 2015

Comprehensive genetic assessment of the ESR1 locus identifies a risk region for endometrial cancer.

Endocr Relat Cancer 2015 Oct;22(5):851-61

Department of Genetics and Computational Biology QIMR Berghofer Medical Research Institute, 300 Herston Road, Herston, Brisbane, Queensland 4006, Australia Wellcome Trust Centre for Human Genetics University of Oxford, Oxford OX3 7BN, UK Department of Public Health and Primary Care Centre for Cancer Genetic Epidemiology, University of Cambridge, Cambridge CB1 8RN, UK Hunter Medical Research Institute John Hunter Hospital, Newcastle, New South Wales 2305, Australia School of Medicine and Public Health Centre for Clinical Epidemiology and Biostatistics, University of Newcastle, Newcastle, New South Wales 2305, Australia Hunter Area Pathology Service John Hunter Hospital, Newcastle, New South Wales 2305, Australia Centre for Information Based Medicine School of Biomedical Sciences and Pharmacy School of Medicine and Public Health University of Newcastle, Newcastle, New South Wales 2308, Australia Department of Oncology Centre for Cancer Genetic Epidemiology, University of Cambridge, Cambridge CB1 8RN, UK Department of Clinical Genetics St George's, University of London, London SW17 0RE, UK Division of Hematology/Oncology Department of Medicine, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, California 90095, USA Department of Gynecology and Obstetrics University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nuremberg, Erlangen 91054, Germany Institute of Human Genetics University Hospital Erlangen, Friedrich-Alexander-University Erlangen-Nuremberg, Erlangen 91054, Germany Department of Medical Epidemiology and Biostatistics Karolinska Institutet, Stockholm SE-171 77, Sweden Department of Gynaecology Jena University Hospital - Friedrich Schiller University, Jena 07743, Germany Hannover Medical School Clinics of Gynaecology and Obstetrics, Hannover 30625, Germany Gynaecology Research Unit Hannover Medical School, Hannover 30625, Germany Vesalius Research Center Leuven 3000, Belgium Laboratory for Translational Genetics

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http://dx.doi.org/10.1530/ERC-15-0319DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4559752PMC
October 2015

Biomarkers in women's cancers, gynecology, and obstetrics.

Biomed Res Int 2014 10;2014:602340. Epub 2014 Jul 10.

Molecular Cancer Epidemiology Laboratory, Genetics and Computational Biology Division, QIMR Berghofer Medical Research Institute, Royal Brisbane Hospital Post Office, Herston, QLD 4029, Australia.

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http://dx.doi.org/10.1155/2014/602340DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4120780PMC
September 2015

Association between single-nucleotide polymorphisms in growth factor genes and quality of life in men with prostate cancer and the general population.

Qual Life Res 2015 Sep 28;24(9):2183-93. Epub 2015 Feb 28.

Institute of Health and Biomedical Innovation (IHBI), School of Nursing, Queensland University of Technology (QUT), Kelvin Grove, Brisbane, QLD, 4059, Australia,

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http://dx.doi.org/10.1007/s11136-015-0950-6DOI Listing
September 2015

Evidence of a Causal Association Between Insulinemia and Endometrial Cancer: A Mendelian Randomization Analysis.

J Natl Cancer Inst 2015 Sep 1;107(9). Epub 2015 Jul 1.

MRC Epidemiology Unit, University of Cambridge, Cambridge, UK (KTN, SJS, AB, JRBP, LAL, CL, NJW, RAS); Department of Radiation Oncology, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA (KTN); Department of Public Health and Primary Care, University of Cambridge, Strangeways Research Laboratory, Cambridge, UK (DJT, DFE, PDPP); Queensland Institute of Medical Research, Brisbane, Australia (JNP, ANECS, TO, ABS); University of Cambridge Metabolic Research Laboratories, Wellcome Trust-Medical Research Council Institute of Metabolic Science, Cambridge, UK (DBS, RKS); Hunter Medical Research Institute, John Hunter Hospital, Newcastle, Australia (JA, EH, RJS); Centre for Clinical Epidemiology and Biostatistics, School of Medicine and Public Health, The University of Newcastle, Newcastle, Australia (JA, MM); Department of Oncology, University of Cambridge, Strangeways Research Laboratory, Cambridge, UK (AMD, DFE, PDPP); Centre for Information Based Medicine, School of Medicine and Public Health, University of Newcastle, Australia (EH, RJS).

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http://dx.doi.org/10.1093/jnci/djv178DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4572886PMC
September 2015

Risk Analysis of Prostate Cancer in PRACTICAL, a Multinational Consortium, Using 25 Known Prostate Cancer Susceptibility Loci.

Cancer Epidemiol Biomarkers Prev 2015 Jul 2;24(7):1121-9. Epub 2015 Apr 2.

Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Strangeways Research Laboratory, Cambridge, United Kingdom.

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http://dx.doi.org/10.1158/1055-9965.EPI-14-0317DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4491026PMC
July 2015

A genetic variant of MDM4 influences regulation by multiple microRNAs in prostate cancer.

Endocr Relat Cancer 2015 Apr 10;22(2):265-76. Epub 2015 Feb 10.

School of Biomedical SciencesInstitute of Health and Biomedical Innovation, Translational Research Institute Pty Ltd, Australian Prostate Cancer Research Centre - Queensland, Queensland University of Technology, 37 Kent Street, Woolloongabba, Brisbane, Queensland 4102, AustraliaDame Roma Mitchell Cancer Research LaboratoriesSchool of Medicine, Adelaide Prostate Cancer Research CentreSchool of MedicineFreemasons Foundation Centre for Men's Health, The University of Adelaide, Adelaide, South Australia 5005, AustraliaMolecular Cancer Epidemiology LaboratoryGenetics and Computational Biology Division, QIMR Berghofer Medical Research Institute, Brisbane, Queensland 4006, Australia

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April 2015

Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer.

Authors:
Timothy R Rebbeck Nandita Mitra Fei Wan Olga M Sinilnikova Sue Healey Lesley McGuffog Sylvie Mazoyer Georgia Chenevix-Trench Douglas F Easton Antonis C Antoniou Katherine L Nathanson Yael Laitman Anya Kushnir Shani Paluch-Shimon Raanan Berger Jamal Zidan Eitan Friedman Hans Ehrencrona Marie Stenmark-Askmalm Zakaria Einbeigi Niklas Loman Katja Harbst Johanna Rantala Beatrice Melin Dezheng Huo Olufunmilayo I Olopade Joyce Seldon Patricia A Ganz Robert L Nussbaum Salina B Chan Kunle Odunsi Simon A Gayther Susan M Domchek Banu K Arun Karen H Lu Gillian Mitchell Beth Y Karlan Christine Walsh Jenny Lester Andrew K Godwin Harsh Pathak Eric Ross Mary B Daly Alice S Whittemore Esther M John Alexander Miron Mary Beth Terry Wendy K Chung David E Goldgar Saundra S Buys Ramunas Janavicius Laima Tihomirova Nadine Tung Cecilia M Dorfling Elizabeth J van Rensburg Linda Steele Susan L Neuhausen Yuan Chun Ding Bent Ejlertsen Anne-Marie Gerdes Thomas v O Hansen Teresa Ramón y Cajal Ana Osorio Javier Benitez Javier Godino Maria-Isabel Tejada Mercedes Duran Jeffrey N Weitzel Kristie A Bobolis Sharon R Sand Annette Fontaine Antonella Savarese Barbara Pasini Bernard Peissel Bernardo Bonanni Daniela Zaffaroni Francesca Vignolo-Lutati Giulietta Scuvera Giuseppe Giannini Loris Bernard Maurizio Genuardi Paolo Radice Riccardo Dolcetti Siranoush Manoukian Valeria Pensotti Viviana Gismondi Drakoulis Yannoukakos Florentia Fostira Judy Garber Diana Torres Muhammad Usman Rashid Ute Hamann Susan Peock Debra Frost Radka Platte D Gareth Evans Rosalind Eeles Rosemarie Davidson Diana Eccles Trevor Cole Jackie Cook Carole Brewer Shirley Hodgson Patrick J Morrison Lisa Walker Mary E Porteous M John Kennedy Louise Izatt Julian Adlard Alan Donaldson Steve Ellis Priyanka Sharma Rita Katharina Schmutzler Barbara Wappenschmidt Alexandra Becker Kerstin Rhiem Eric Hahnen Christoph Engel Alfons Meindl Stefanie Engert Nina Ditsch Norbert Arnold Hans Jörg Plendl Christoph Mundhenke Dieter Niederacher Markus Fleisch Christian Sutter C R Bartram Nicola Dikow Shan Wang-Gohrke Dorothea Gadzicki Doris Steinemann Karin Kast Marit Beer Raymonda Varon-Mateeva Andrea Gehrig Bernhard H Weber Dominique Stoppa-Lyonnet Olga M Sinilnikova Sylvie Mazoyer Claude Houdayer Muriel Belotti Marion Gauthier-Villars Francesca Damiola Nadia Boutry-Kryza Christine Lasset Hagay Sobol Jean-Philippe Peyrat Danièle Muller Jean-Pierre Fricker Marie-Agnès Collonge-Rame Isabelle Mortemousque Catherine Nogues Etienne Rouleau Claudine Isaacs Anne De Paepe Bruce Poppe Kathleen Claes Kim De Leeneer Marion Piedmonte Gustavo Rodriguez Katie Wakely John Boggess Stephanie V Blank Jack Basil Masoud Azodi Kelly-Anne Phillips Trinidad Caldes Miguel de la Hoya Atocha Romero Heli Nevanlinna Kristiina Aittomäki Annemarie H van der Hout Frans B L Hogervorst Senno Verhoef J Margriet Collée Caroline Seynaeve Jan C Oosterwijk Johannes J P Gille Juul T Wijnen Encarna B Gómez Garcia Carolien M Kets Margreet G E M Ausems Cora M Aalfs Peter Devilee Arjen R Mensenkamp Ava Kwong Edith Olah Janos Papp Orland Diez Conxi Lazaro Esther Darder Ignacio Blanco Mónica Salinas Anna Jakubowska Jan Lubinski Jacek Gronwald Katarzyna Jaworska-Bieniek Katarzyna Durda Grzegorz Sukiennicki Tomasz Huzarski Tomasz Byrski Cezary Cybulski Aleksandra Toloczko-Grabarek Elżbieta Złowocka-Perłowska Janusz Menkiszak Adalgeir Arason Rosa B Barkardottir Jacques Simard Rachel Laframboise Marco Montagna Simona Agata Elisa Alducci Ana Peixoto Manuel R Teixeira Amanda B Spurdle Min Hyuk Lee Sue K Park Sung-Won Kim Tara M Friebel Fergus J Couch Noralane M Lindor Vernon S Pankratz Lucia Guidugli Xianshu Wang Marc Tischkowitz Lenka Foretova Joseph Vijai Kenneth Offit Mark Robson Rohini Rau-Murthy Noah Kauff Anneliese Fink-Retter Christian F Singer Christine Rappaport Daphne Gschwantler-Kaulich Georg Pfeiler Muy-Kheng Tea Andreas Berger Mark H Greene Phuong L Mai Evgeny N Imyanitov Amanda Ewart Toland Leigha Senter Anders Bojesen Inge Sokilde Pedersen Anne-Bine Skytte Lone Sunde Mads Thomassen Sanne Traasdahl Moeller Torben A Kruse Uffe Birk Jensen Maria Adelaide Caligo Paolo Aretini Soo-Hwang Teo Christina G Selkirk Peter J Hulick Irene Andrulis

JAMA 2015 Apr;313(13):1347-61

Lunenfeld-Tanenbaum Research Institute, Mount Sinai Hospital and University of Toronto, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1001/jama.2014.5985DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4537700PMC
April 2015

An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriers.

Authors:
Sophie Blein Claire Bardel Vincent Danjean Lesley McGuffog Sue Healey Daniel Barrowdale Andrew Lee Joe Dennis Karoline B Kuchenbaecker Penny Soucy Mary Beth Terry Wendy K Chung David E Goldgar Saundra S Buys Ramunas Janavicius Laima Tihomirova Nadine Tung Cecilia M Dorfling Elizabeth J van Rensburg Susan L Neuhausen Yuan Chun Ding Anne-Marie Gerdes Bent Ejlertsen Finn C Nielsen Thomas Vo Hansen Ana Osorio Javier Benitez Raquel Andrés Conejero Ena Segota Jeffrey N Weitzel Margo Thelander Paolo Peterlongo Paolo Radice Valeria Pensotti Riccardo Dolcetti Bernardo Bonanni Bernard Peissel Daniela Zaffaroni Giulietta Scuvera Siranoush Manoukian Liliana Varesco Gabriele L Capone Laura Papi Laura Ottini Drakoulis Yannoukakos Irene Konstantopoulou Judy Garber Ute Hamann Alan Donaldson Angela Brady Carole Brewer Claire Foo D Gareth Evans Debra Frost Diana Eccles Fiona Douglas Jackie Cook Julian Adlard Julian Barwell Lisa Walker Louise Izatt Lucy E Side M John Kennedy Marc Tischkowitz Mark T Rogers Mary E Porteous Patrick J Morrison Radka Platte Ros Eeles Rosemarie Davidson Shirley Hodgson Trevor Cole Andrew K Godwin Claudine Isaacs Kathleen Claes Kim De Leeneer Alfons Meindl Andrea Gehrig Barbara Wappenschmidt Christian Sutter Christoph Engel Dieter Niederacher Doris Steinemann Hansjoerg Plendl Karin Kast Kerstin Rhiem Nina Ditsch Norbert Arnold Raymonda Varon-Mateeva Rita K Schmutzler Sabine Preisler-Adams Nadja Bogdanova Markov Shan Wang-Gohrke Antoine de Pauw Cédrick Lefol Christine Lasset Dominique Leroux Etienne Rouleau Francesca Damiola Hélène Dreyfus Laure Barjhoux Lisa Golmard Nancy Uhrhammer Valérie Bonadona Valérie Sornin Yves-Jean Bignon Jonathan Carter Linda Van Le Marion Piedmonte Paul A DiSilvestro Miguel de la Hoya Trinidad Caldes Heli Nevanlinna Kristiina Aittomäki Agnes Jager Ans Mw van den Ouweland Carolien M Kets Cora M Aalfs Flora E van Leeuwen Frans Bl Hogervorst Hanne Ej Meijers-Heijboer Jan C Oosterwijk Kees Ep van Roozendaal Matti A Rookus Peter Devilee Rob B van der Luijt Edith Olah Orland Diez Alex Teulé Conxi Lazaro Ignacio Blanco Jesús Del Valle Anna Jakubowska Grzegorz Sukiennicki Jacek Gronwald Jan Lubinski Katarzyna Durda Katarzyna Jaworska-Bieniek Bjarni A Agnarsson Christine Maugard Alberto Amadori Marco Montagna Manuel R Teixeira Amanda B Spurdle William Foulkes Curtis Olswold Noralane M Lindor Vernon S Pankratz Csilla I Szabo Anne Lincoln Lauren Jacobs Marina Corines Mark Robson Joseph Vijai Andreas Berger Anneliese Fink-Retter Christian F Singer Christine Rappaport Daphne Geschwantler Kaulich Georg Pfeiler Muy-Kheng Tea Mark H Greene Phuong L Mai Gad Rennert Evgeny N Imyanitov Anna Marie Mulligan Gord Glendon Irene L Andrulis Sandrine Tchatchou Amanda Ewart Toland Inge Sokilde Pedersen Mads Thomassen Torben A Kruse Uffe Birk Jensen Maria A Caligo Eitan Friedman Jamal Zidan Yael Laitman Annika Lindblom Beatrice Melin Brita Arver Niklas Loman Richard Rosenquist Olufunmilayo I Olopade Robert L Nussbaum Susan J Ramus Katherine L Nathanson Susan M Domchek Timothy R Rebbeck Banu K Arun Gillian Mitchell Beth Y Karlan Jenny Lester Sandra Orsulic Dominique Stoppa-Lyonnet Gilles Thomas Jacques Simard Fergus J Couch Kenneth Offit Douglas F Easton Georgia Chenevix-Trench Antonis C Antoniou Sylvie Mazoyer Catherine M Phelan Olga M Sinilnikova David G Cox

Breast Cancer Res 2015 Apr 25;17:61. Epub 2015 Apr 25.

INSERM U1052, CNRS UMR5286, Université Lyon 1, Centre de Recherche en Cancérologie de Lyon, Lyon, France.

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http://dx.doi.org/10.1186/s13058-015-0567-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4478717PMC
April 2015

Fine-mapping of the HNF1B multicancer locus identifies candidate variants that mediate endometrial cancer risk.

Authors:
Jodie N Painter Tracy A O'Mara Jyotsna Batra Timothy Cheng Felicity A Lose Joe Dennis Kyriaki Michailidou Jonathan P Tyrer Shahana Ahmed Kaltin Ferguson Catherine S Healey Susanne Kaufmann Kristine M Hillman Carina Walpole Leire Moya Pamela Pollock Angela Jones Kimberley Howarth Lynn Martin Maggie Gorman Shirley Hodgson Ma Magdalena Echeverry De Polanco Monica Sans Angel Carracedo Sergi Castellvi-Bel Augusto Rojas-Martinez Erika Santos Manuel R Teixeira Luis Carvajal-Carmona Xiao-Ou Shu Jirong Long Wei Zheng Yong-Bing Xiang Grant W Montgomery Penelope M Webb Rodney J Scott Mark McEvoy John Attia Elizabeth Holliday Nicholas G Martin Dale R Nyholt Anjali K Henders Peter A Fasching Alexander Hein Matthias W Beckmann Stefan P Renner Thilo Dörk Peter Hillemanns Matthias Dürst Ingo Runnebaum Diether Lambrechts Lieve Coenegrachts Stefanie Schrauwen Frederic Amant Boris Winterhoff Sean C Dowdy Ellen L Goode Attila Teoman Helga B Salvesen Jone Trovik Tormund S Njolstad Henrica M J Werner Katie Ashton Tony Proietto Geoffrey Otton Gerasimos Tzortzatos Miriam Mints Emma Tham Per Hall Kamila Czene Jianjun Liu Jingmei Li John L Hopper Melissa C Southey Arif B Ekici Matthias Ruebner Nicola Johnson Julian Peto Barbara Burwinkel Frederik Marme Hermann Brenner Aida K Dieffenbach Alfons Meindl Hiltrud Brauch Annika Lindblom Jeroen Depreeuw Matthieu Moisse Jenny Chang-Claude Anja Rudolph Fergus J Couch Janet E Olson Graham G Giles Fiona Bruinsma Julie M Cunningham Brooke L Fridley Anne-Lise Børresen-Dale Vessela N Kristensen Angela Cox Anthony J Swerdlow Nicholas Orr Manjeet K Bolla Qin Wang Rachel Palmieri Weber Zhihua Chen Mitul Shah Juliet D French Paul D P Pharoah Alison M Dunning Ian Tomlinson Douglas F Easton Stacey L Edwards Deborah J Thompson Amanda B Spurdle

Hum Mol Genet 2015 Mar 6;24(5):1478-92. Epub 2014 Nov 6.

QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia,

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http://dx.doi.org/10.1093/hmg/ddu552DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4321445PMC
March 2015

Microsatellite instability use in mismatch repair gene sequence variant classification.

Genes (Basel) 2015 Mar 30;6(2):150-62. Epub 2015 Mar 30.

Genetics and Computational Biology Department, QIMR Berghofer Medical Research Institute, 300 Herston Road, Brisbane, QLD 4006, Australia.

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http://dx.doi.org/10.3390/genes6020150DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4488658PMC
March 2015

Candidate locus analysis of the TERT-CLPTM1L cancer risk region on chromosome 5p15 identifies multiple independent variants associated with endometrial cancer risk.

Hum Genet 2015 Feb 9;134(2):231-45. Epub 2014 Dec 9.

Genome Center and Department of Biochemistry and Molecular Medicine, School of Medicine, University of California, Davis, CA, 95616, USA,

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http://dx.doi.org/10.1007/s00439-014-1515-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4291520PMC
February 2015

Candidate genetic modifiers for breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers.

Authors:
Paolo Peterlongo Jenny Chang-Claude Kirsten B Moysich Anja Rudolph Rita K Schmutzler Jacques Simard Penny Soucy Rosalind A Eeles Douglas F Easton Ute Hamann Stefan Wilkening Bowang Chen Matti A Rookus Marjanka K Schmidt Frederieke H van der Baan Amanda B Spurdle Logan C Walker Felicity Lose Ana-Teresa Maia Marco Montagna Laura Matricardi Jan Lubinski Anna Jakubowska Encarna B Gómez Garcia Olufunmilayo I Olopade Robert L Nussbaum Katherine L Nathanson Susan M Domchek Timothy R Rebbeck Banu K Arun Beth Y Karlan Sandra Orsulic Jenny Lester Wendy K Chung Alex Miron Melissa C Southey David E Goldgar Saundra S Buys Ramunas Janavicius Cecilia M Dorfling Elizabeth J van Rensburg Yuan Chun Ding Susan L Neuhausen Thomas V O Hansen Anne-Marie Gerdes Bent Ejlertsen Lars Jønson Ana Osorio Cristina Martínez-Bouzas Javier Benitez Edye E Conway Kathleen R Blazer Jeffrey N Weitzel Siranoush Manoukian Bernard Peissel Daniela Zaffaroni Giulietta Scuvera Monica Barile Filomena Ficarazzi Frederique Mariette Stefano Fortuzzi Alessandra Viel Giuseppe Giannini Laura Papi Aline Martayan Maria Grazia Tibiletti Paolo Radice Athanassios Vratimos Florentia Fostira Judy E Garber Alan Donaldson Carole Brewer Claire Foo D Gareth R Evans Debra Frost Diana Eccles Angela Brady Jackie Cook Marc Tischkowitz Julian Adlard Julian Barwell Lisa Walker Louise Izatt Lucy E Side M John Kennedy Mark T Rogers Mary E Porteous Patrick J Morrison Radka Platte Rosemarie Davidson Shirley V Hodgson Steve Ellis Trevor Cole Andrew K Godwin Kathleen Claes Tom Van Maerken Alfons Meindl Andrea Gehrig Christian Sutter Christoph Engel Dieter Niederacher Doris Steinemann Hansjoerg Plendl Karin Kast Kerstin Rhiem Nina Ditsch Norbert Arnold Raymonda Varon-Mateeva Barbara Wappenschmidt Shan Wang-Gohrke Brigitte Bressac-de Paillerets Bruno Buecher Capucine Delnatte Claude Houdayer Dominique Stoppa-Lyonnet Francesca Damiola Isabelle Coupier Laure Barjhoux Laurence Venat-Bouvet Lisa Golmard Nadia Boutry-Kryza Olga M Sinilnikova Olivier Caron Pascal Pujol Sylvie Mazoyer Muriel Belotti Marion Piedmonte Michael L Friedlander Gustavo C Rodriguez Larry J Copeland Miguel de la Hoya Pedro Perez Segura Heli Nevanlinna Kristiina Aittomäki Theo A M van Os Hanne E J Meijers-Heijboer Annemarie H van der Hout Maaike P G Vreeswijk Nicoline Hoogerbrugge Margreet G E M Ausems Helena C van Doorn J Margriet Collée Edith Olah Orland Diez Ignacio Blanco Conxi Lazaro Joan Brunet Lidia Feliubadalo Cezary Cybulski Jacek Gronwald Katarzyna Durda Katarzyna Jaworska-Bieniek Grzegorz Sukiennicki Adalgeir Arason Jocelyne Chiquette Manuel R Teixeira Curtis Olswold Fergus J Couch Noralane M Lindor Xianshu Wang Csilla I Szabo Kenneth Offit Marina Corines Lauren Jacobs Mark E Robson Liying Zhang Vijai Joseph Andreas Berger Christian F Singer Christine Rappaport Daphne Geschwantler Kaulich Georg Pfeiler Muy-Kheng M Tea Catherine M Phelan Mark H Greene Phuong L Mai Gad Rennert Anna Marie Mulligan Gord Glendon Sandrine Tchatchou Irene L Andrulis Amanda Ewart Toland Anders Bojesen Inge Sokilde Pedersen Mads Thomassen Uffe Birk Jensen Yael Laitman Johanna Rantala Anna von Wachenfeldt Hans Ehrencrona Marie Stenmark Askmalm Åke Borg Karoline B Kuchenbaecker Lesley McGuffog Daniel Barrowdale Sue Healey Andrew Lee Paul D P Pharoah Georgia Chenevix-Trench Antonis C Antoniou Eitan Friedman

Cancer Epidemiol Biomarkers Prev 2015 Jan 21;24(1):308-16. Epub 2014 Oct 21.

Sheba Medical Center, Tel Aviv, Israel.

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http://dx.doi.org/10.1158/1055-9965.EPI-14-0532DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4294951PMC
January 2015

Refined histopathological predictors of BRCA1 and BRCA2 mutation status: a large-scale analysis of breast cancer characteristics from the BCAC, CIMBA, and ENIGMA consortia.

Authors:
Amanda B Spurdle Fergus J Couch Michael T Parsons Lesley McGuffog Daniel Barrowdale Manjeet K Bolla Qin Wang Sue Healey Rita Schmutzler Barbara Wappenschmidt Kerstin Rhiem Eric Hahnen Christoph Engel Alfons Meindl Nina Ditsch Norbert Arnold Hansjoerg Plendl Dieter Niederacher Christian Sutter Shan Wang-Gohrke Doris Steinemann Sabine Preisler-Adams Karin Kast Raymonda Varon-Mateeva Steve Ellis Debra Frost Radka Platte Jo Perkins D Gareth Evans Louise Izatt Ros Eeles Julian Adlard Rosemarie Davidson Trevor Cole Giulietta Scuvera Siranoush Manoukian Bernardo Bonanni Frederique Mariette Stefano Fortuzzi Alessandra Viel Barbara Pasini Laura Papi Liliana Varesco Rosemary Balleine Katherine L Nathanson Susan M Domchek Kenneth Offitt Anna Jakubowska Noralane Lindor Mads Thomassen Uffe Birk Jensen Johanna Rantala Åke Borg Irene L Andrulis Alexander Miron Thomas V O Hansen Trinidad Caldes Susan L Neuhausen Amanda E Toland Heli Nevanlinna Marco Montagna Judy Garber Andrew K Godwin Ana Osorio Rachel E Factor Mary B Terry Timothy R Rebbeck Beth Y Karlan Melissa Southey Muhammad Usman Rashid Nadine Tung Paul D P Pharoah Fiona M Blows Alison M Dunning Elena Provenzano Per Hall Kamila Czene Marjanka K Schmidt Annegien Broeks Sten Cornelissen Senno Verhoef Peter A Fasching Matthias W Beckmann Arif B Ekici Dennis J Slamon Stig E Bojesen Børge G Nordestgaard Sune F Nielsen Henrik Flyger Jenny Chang-Claude Dieter Flesch-Janys Anja Rudolph Petra Seibold Kristiina Aittomäki Taru A Muranen Päivi Heikkilä Carl Blomqvist Jonine Figueroa Stephen J Chanock Louise Brinton Jolanta Lissowska Janet E Olson Vernon S Pankratz Esther M John Alice S Whittemore Dee W West Ute Hamann Diana Torres Hans Ulrich Ulmer Thomas Rüdiger Peter Devilee Robert A E M Tollenaar Caroline Seynaeve Christi J Van Asperen Diana M Eccles William J Tapper Lorraine Durcan Louise Jones Julian Peto Isabel dos-Santos-Silva Olivia Fletcher Nichola Johnson Miriam Dwek Ruth Swann Anita L Bane Gord Glendon Anna M Mulligan Graham G Giles Roger L Milne Laura Baglietto Catriona McLean Jane Carpenter Christine Clarke Rodney Scott Hiltrud Brauch Thomas Brüning Yon-Dschun Ko Angela Cox Simon S Cross Malcolm W R Reed Jan Lubinski Katarzyna Jaworska-Bieniek Katarzyna Durda Jacek Gronwald Thilo Dörk Natalia Bogdanova Tjoung-Won Park-Simon Peter Hillemanns Christopher A Haiman Brian E Henderson Fredrick Schumacher Loic Le Marchand Barbara Burwinkel Frederik Marme Harald Surovy Rongxi Yang Hoda Anton-Culver Argyrios Ziogas Maartje J Hooning J Margriet Collée John W M Martens Madeleine M A Tilanus-Linthorst Hermann Brenner Aida Karina Dieffenbach Volke Arndt Christa Stegmaier Robert Winqvist Katri Pylkäs Arja Jukkola-Vuorinen Mervi Grip Annika Lindblom Sara Margolin Vijai Joseph Mark Robson Rohini Rau-Murthy Anna González-Neira José Ignacio Arias Pilar Zamora Javier Benítez Arto Mannermaa Vesa Kataja Veli-Matti Kosma Jaana M Hartikainen Paolo Peterlongo Daniela Zaffaroni Monica Barile Fabio Capra Paolo Radice Soo H Teo Douglas F Easton Antonis C Antoniou Georgia Chenevix-Trench David E Goldgar

Breast Cancer Res 2014 Dec 23;16(6):3419. Epub 2014 Dec 23.

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http://dx.doi.org/10.1186/s13058-014-0474-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4352262PMC
December 2014

Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA1 and BRCA2 mutation carriers.

Authors:
Karoline B Kuchenbaecker Susan L Neuhausen Mark Robson Daniel Barrowdale Lesley McGuffog Anna Marie Mulligan Irene L Andrulis Amanda B Spurdle Marjanka K Schmidt Rita K Schmutzler Christoph Engel Barbara Wappenschmidt Heli Nevanlinna Mads Thomassen Melissa Southey Paolo Radice Susan J Ramus Susan M Domchek Katherine L Nathanson Andrew Lee Sue Healey Robert L Nussbaum Timothy R Rebbeck Banu K Arun Paul James Beth Y Karlan Jenny Lester Ilana Cass Mary Beth Terry Mary B Daly David E Goldgar Saundra S Buys Ramunas Janavicius Laima Tihomirova Nadine Tung Cecilia M Dorfling Elizabeth J van Rensburg Linda Steele Thomas v O Hansen Bent Ejlertsen Anne-Marie Gerdes Finn C Nielsen Joe Dennis Julie Cunningham Steven Hart Susan Slager Ana Osorio Javier Benitez Mercedes Duran Jeffrey N Weitzel Isaac Tafur Mary Hander Paolo Peterlongo Siranoush Manoukian Bernard Peissel Gaia Roversi Giulietta Scuvera Bernardo Bonanni Paolo Mariani Sara Volorio Riccardo Dolcetti Liliana Varesco Laura Papi Maria Grazia Tibiletti Giuseppe Giannini Florentia Fostira Irene Konstantopoulou Judy Garber Ute Hamann Alan Donaldson Carole Brewer Claire Foo D Gareth Evans Debra Frost Diana Eccles Fiona Douglas Angela Brady Jackie Cook Marc Tischkowitz Julian Adlard Julian Barwell Kai-ren Ong Lisa Walker Louise Izatt Lucy E Side M John Kennedy Mark T Rogers Mary E Porteous Patrick J Morrison Radka Platte Ros Eeles Rosemarie Davidson Shirley Hodgson Steve Ellis Andrew K Godwin Kerstin Rhiem Alfons Meindl Nina Ditsch Norbert Arnold Hansjoerg Plendl Dieter Niederacher Christian Sutter Doris Steinemann Nadja Bogdanova-Markov Karin Kast Raymonda Varon-Mateeva Shan Wang-Gohrke Andrea Gehrig Birgid Markiefka Bruno Buecher Cédrick Lefol Dominique Stoppa-Lyonnet Etienne Rouleau Fabienne Prieur Francesca Damiola Laure Barjhoux Laurence Faivre Michel Longy Nicolas Sevenet Olga M Sinilnikova Sylvie Mazoyer Valérie Bonadona Virginie Caux-Moncoutier Claudine Isaacs Tom Van Maerken Kathleen Claes Marion Piedmonte Lesley Andrews John Hays Gustavo C Rodriguez Trinidad Caldes Miguel de la Hoya Sofia Khan Frans B L Hogervorst Cora M Aalfs J L de Lange Hanne E J Meijers-Heijboer Annemarie H van der Hout Juul T Wijnen K E P van Roozendaal Arjen R Mensenkamp Ans M W van den Ouweland Carolien H M van Deurzen Rob B van der Luijt Edith Olah Orland Diez Conxi Lazaro Ignacio Blanco Alex Teulé Mireia Menendez Anna Jakubowska Jan Lubinski Cezary Cybulski Jacek Gronwald Katarzyna Jaworska-Bieniek Katarzyna Durda Adalgeir Arason Christine Maugard Penny Soucy Marco Montagna Simona Agata Manuel R Teixeira Curtis Olswold Noralane Lindor Vernon S Pankratz Emily Hallberg Xianshu Wang Csilla I Szabo Joseph Vijai Lauren Jacobs Marina Corines Anne Lincoln Andreas Berger Anneliese Fink-Retter Christian F Singer Christine Rappaport Daphne Gschwantler Kaulich Georg Pfeiler Muy-Kheng Tea Catherine M Phelan Phuong L Mai Mark H Greene Gad Rennert Evgeny N Imyanitov Gord Glendon Amanda Ewart Toland Anders Bojesen Inge Sokilde Pedersen Uffe Birk Jensen Maria A Caligo Eitan Friedman Raanan Berger Yael Laitman Johanna Rantala Brita Arver Niklas Loman Ake Borg Hans Ehrencrona Olufunmilayo I Olopade Jacques Simard Douglas F Easton Georgia Chenevix-Trench Kenneth Offit Fergus J Couch Antonis C Antoniou

Breast Cancer Res 2014 Dec 31;16(6):3416. Epub 2014 Dec 31.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4406179PMC
December 2014

Clinical problems of colorectal cancer and endometrial cancer cases with unknown cause of tumor mismatch repair deficiency (suspected Lynch syndrome).

Appl Clin Genet 2014 6;7:183-93. Epub 2014 Oct 6.

Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Parkville, VIC, Australia.

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http://dx.doi.org/10.2147/TACG.S48625DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4199650PMC
October 2014

Knowledge, attitudes and referral patterns of lynch syndrome: a survey of clinicians in australia.

J Pers Med 2014 May 12;4(2):218-44. Epub 2014 May 12.

School of Medicine, The University of Queensland, 288 Herston Road, Herston, QLD 4006, Australia.

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http://dx.doi.org/10.3390/jpm4020218DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4263974PMC
May 2014

Tumor mismatch repair immunohistochemistry and DNA MLH1 methylation testing of patients with endometrial cancer diagnosed at age younger than 60 years optimizes triage for population-level germline mismatch repair gene mutation testing.

J Clin Oncol 2014 Jan 9;32(2):90-100. Epub 2013 Dec 9.

Daniel D. Buchanan, Yen Y. Tan, Michael D. Walsh, Mark Clendenning, Alexander M. Metcalf, Kaltin Ferguson, Sven T. Arnold, Bryony A. Thompson, Felicity A. Lose, Michael T. Parsons, Rhiannon J. Walters, Sally-Ann Pearson, Joanne P. Young, Penelope M. Webb, and Amanda B. Spurdle, QIMR Berghofer Medical Research Institute, Herston; Yen Y. Tan and Andreas Obermair, University of Queensland School of Medicine, Brisbane; Margaret Cummings, University of Queensland Centre for Clinical Research, Herston, Queensland; Martin K. Oehler, Royal Adelaide Hospital, Adelaide, South Australia; Michael A. Quinn, Royal Women's Hospital, Melbourne, Victoria; Judy A. Kirk, Westmead Institute for Cancer Research, Westmead Millennium Institute, University of Sydney, Sydney, New South Wales; Colin J. Stewart, King Edward Memorial Hospital, Perth, Western Australia, Australia; and Penelope B. Blomfield, Royal Hobart Hospital, Hobart, Tasmania.

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http://jco.ascopubs.org/content/early/2013/12/09/JCO.2013.51
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http://jco.ascopubs.org/cgi/doi/10.1200/JCO.2013.51.2129
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http://dx.doi.org/10.1200/JCO.2013.51.2129DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4876359PMC
January 2014