Sean Tavtigian

Sean Tavtigian

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Sean Tavtigian

Publications by authors named "Sean Tavtigian"

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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

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

Genetic predisposition to colorectal cancer: syndromes, genes, classification of genetic variants and implications for precision medicine.

J Pathol 2019 Apr 20;247(5):574-588. Epub 2019 Feb 20.

Department of Internal Medicine, University of Michigan, Ann Arbor, MI, USA.

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http://dx.doi.org/10.1002/path.5229DOI Listing
April 2019

Modeling the ACMG/AMP variant classification guidelines as a Bayesian classification framework.

Genet Med 2018 09 4;20(9):1054-1060. Epub 2018 Jan 4.

Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.

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http://dx.doi.org/10.1038/gim.2017.210DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6336098PMC
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

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

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

No evidence that protein truncating variants in BRIP1 are associated with breast cancer risk: implications for gene panel testing.

Authors:
Douglas F Easton Fabienne Lesueur Brennan Decker Kyriaki Michailidou Jun Li Jamie Allen Craig Luccarini Karen A Pooley Mitul Shah Manjeet K Bolla Qin Wang Joe Dennis Jamil Ahmad Ella R Thompson Francesca Damiola Maroulio Pertesi Catherine Voegele Noura Mebirouk Nivonirina Robinot Geoffroy Durand Nathalie Forey Robert N Luben Shahana Ahmed Kristiina Aittomäki Hoda Anton-Culver Volker Arndt Caroline Baynes Matthias W Beckman Javier Benitez David Van Den Berg William J Blot Natalia V Bogdanova Stig E Bojesen Hermann Brenner Jenny Chang-Claude Kee Seng Chia Ji-Yeob Choi Don M Conroy Angela Cox Simon S Cross Kamila Czene Hatef Darabi Peter Devilee Mikael Eriksson Peter A Fasching Jonine Figueroa Henrik Flyger Florentia Fostira Montserrat García-Closas Graham G Giles Gord Glendon Anna González-Neira Pascal Guénel Christopher A Haiman Per Hall Steven N Hart Mikael Hartman Maartje J Hooning Chia-Ni Hsiung Hidemi Ito Anna Jakubowska Paul A James Esther M John Nichola Johnson Michael Jones Maria Kabisch Daehee Kang Veli-Matti Kosma Vessela Kristensen Diether Lambrechts Na Li Annika Lindblom Jirong Long Artitaya Lophatananon Jan Lubinski Arto Mannermaa Siranoush Manoukian Sara Margolin Keitaro Matsuo Alfons Meindl Gillian Mitchell Kenneth Muir Ines Nevelsteen Ans van den Ouweland Paolo Peterlongo Sze Yee Phuah Katri Pylkäs Simone M Rowley Suleeporn Sangrajrang Rita K Schmutzler Chen-Yang Shen Xiao-Ou Shu Melissa C Southey Harald Surowy Anthony Swerdlow Soo H Teo Rob A E M Tollenaar Ian Tomlinson Diana Torres Thérèse Truong Celine Vachon Senno Verhoef Michelle Wong-Brown Wei Zheng Ying Zheng Heli Nevanlinna Rodney J Scott Irene L Andrulis Anna H Wu John L Hopper Fergus J Couch Robert Winqvist Barbara Burwinkel Elinor J Sawyer Marjanka K Schmidt Anja Rudolph Thilo Dörk Hiltrud Brauch Ute Hamann Susan L Neuhausen Roger L Milne Olivia Fletcher Paul D P Pharoah Ian G Campbell Alison M Dunning Florence Le Calvez-Kelm David E Goldgar Sean V Tavtigian Georgia Chenevix-Trench

J Med Genet 2016 05 26;53(5):298-309. Epub 2016 Feb 26.

Department of Genetics, QIMR Berghofer Medical Research Institute, Brisbane, Australia.

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http://dx.doi.org/10.1136/jmedgenet-2015-103529DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4938802PMC
May 2016

Colorectal cancer prevention and intentions to use low-dose aspirin: A survey of 1000 U.S. adults aged 40-65.

Cancer Epidemiol 2016 Apr 16;41:99-105. Epub 2016 Feb 16.

Huntsman Cancer Institute, United States; Oncological Sciences, United States.

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http://dx.doi.org/10.1016/j.canep.2016.02.003DOI Listing
April 2016

Gene-panel sequencing and the prediction of breast-cancer risk.

N Engl J Med 2015 Jun 27;372(23):2243-57. Epub 2015 May 27.

From the Departments of Public Health and Primary Care (D.F.E., P.D.P.P., A.C.A.), Oncology (D.F.E., P.D.P.P.), and Medical Genetics (M.T.), University of Cambridge, Cambridge, the Centre for Genomic Medicine, Institute of Human Development, Manchester Academic Health Science Centre, University of Manchester and St. Mary's Hospital, Manchester (D.G.R.E.), and the Division of Genetics and Epidemiology, Institute of Cancer Research, London (N.R.) - all in the United Kingdom; the Departments of Oncological Sciences (S.V.T.) and Dermatology (D.E.G.), Huntsman Cancer Institute, University of Utah School of Medicine, Salt Lake City; the Basser Research Center for BRCA and Abramson Cancer Center, Perelman School of Medicine at the University of Pennsylvania, Philadelphia (K.L.N., S.M.D.); the Department of Human Genetics and Department of Pathology, Leiden University Medical Center, Leiden, the Netherlands (P.D.); the Department of Obstetrics and Gynecology, Division of Tumor Genetics, Klinikum rechts der Isar, Technische Universität München, Munich, Germany (A.M.); the Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN (F.J.C.); the Department of Pathology, School of Biomedical Sciences, Faculty of Medicine, Dentistry, and Health Sciences at the University of Melbourne, Parkville, VIC (M.S.), and the QIMR Berghofer Medical Research Institute, Herston, QLD (G.C.-T.) - both in Australia; the Clinical Genetics Service, Division of Solid Tumor Oncology, Department of Medicine, Memorial Sloan Kettering Cancer Center, New York (M.R.); and the Program in Cancer Genetics, Departments of Human Genetics and Oncology, the Lady Davis Institute for Medical Research, and the Research Institute of the McGill University Health Center, McGill University, Montreal (W.D.F.).

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http://www.nejm.org/doi/10.1056/NEJMsr1501341
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http://dx.doi.org/10.1056/NEJMsr1501341DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4610139PMC
June 2015

Growing recognition of the role for rare missense substitutions in breast cancer susceptibility.

Biomark Med 2014 ;8(4):589-603

Huntsman Cancer Institute and Department of Oncological Sciences, University of Utah School of Medicine, Salt Lake City, UT 84112, USA.

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http://dx.doi.org/10.2217/bmm.13.143DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4336165PMC
December 2014

BRCA1/2 sequence variants of uncertain significance: a primer for providers to assist in discussions and in medical management.

Oncologist 2013 24;18(5):518-24. Epub 2013 Apr 24.

Department of Health Sciences Research, Mayo Clinic, Scottsdale, Arizona 85259, USA.

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http://dx.doi.org/10.1634/theoncologist.2012-0452DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3662842PMC
December 2013

Pathological assessment of mismatch repair gene variants in Lynch syndrome: past, present, and future.

Hum Mutat 2012 Dec 13;33(12):1617-25. Epub 2012 Aug 13.

Center for Healthy Aging, Department of Cellular and Molecular Medicine, University of Copenhagen, Denmark.

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http://doi.wiley.com/10.1002/humu.22168
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http://dx.doi.org/10.1002/humu.22168DOI Listing
December 2012

Design considerations for massively parallel sequencing studies of complex human disease.

PLoS One 2011 5;6(8):e23221. Epub 2011 Aug 5.

Department of Dermatology, University of Utah School of Medicine, Salt Lake City, Utah, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0023221PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3151293PMC
February 2012

Molecular characterization of breast cancer in young Brazilian women.

Rev Assoc Med Bras (1992) 2010 May-Jun;56(3):278-87

Curso de Medicina, Centro Universitário Lusíada, UNILUS.

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August 2011

A computational method to classify variants of uncertain significance using functional assay data with application to BRCA1.

Cancer Epidemiol Biomarkers Prev 2011 Jun 29;20(6):1078-88. Epub 2011 Mar 29.

Department of Statistical Science, Duke University, Durham, North Carolina 27708, USA.

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http://cebp.aacrjournals.org/cgi/doi/10.1158/1055-9965.EPI-1
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http://dx.doi.org/10.1158/1055-9965.EPI-10-1214DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3111818PMC
June 2011

Comparison of programs for in silico assessment of missense substitutions.

Authors:
Sean V Tavtigian

Hum Mutat 2011 Jun;32(6)

Huntsman Cancer Institute, University of Utah School of Medicine, USA.

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http://dx.doi.org/10.1002/humu.21532DOI Listing
June 2011

Identification of Filamin A as a BRCA1-interacting protein required for efficient DNA repair.

Cell Cycle 2010 Apr 1;9(7):1421-33. Epub 2010 Apr 1.

Risk Assessment, Detection and Intervention Program, H. Lee Moffitt Cancer Center, Tampa, FL, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3040726PMC
http://dx.doi.org/10.4161/cc.9.7.11256DOI Listing
April 2010

Analysis of BRCA1/BRCA2 genes' contribution to breast cancer susceptibility in high risk Jewish Ashkenazi women.

Fam Cancer 2009 17;8(2):127-33. Epub 2008 Sep 17.

Susanne Levy Gertner Oncogenetics Unit, The Danek Gertner Institute of Human Genetics, Chaim Sheba Medical Center, Tel-Hashomer, Israel.

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http://dx.doi.org/10.1007/s10689-008-9216-6DOI Listing
September 2009

Planning the human variome project: the Spain report.

Authors:
Jim Kaput Richard G H Cotton Lauren Hardman Michael Watson Aida I Al Aqeel Jumana Y Al-Aama Fahd Al-Mulla Santos Alonso Stefan Aretz Arleen D Auerbach Bharati Bapat Inge T Bernstein Jong Bhak Stacey L Bleoo Helmut Blöcker Steven E Brenner John Burn Mariona Bustamante Rita Calzone Anne Cambon-Thomsen Michele Cargill Paola Carrera Lawrence Cavedon Yoon Shin Cho Yeun-Jun Chung Mireille Claustres Garry Cutting Raymond Dalgleish Johan T den Dunnen Carlos Díaz Steven Dobrowolski M Rosário N dos Santos Rosemary Ekong Simon B Flanagan Paul Flicek Yoichi Furukawa Maurizio Genuardi Ho Ghang Maria V Golubenko Marc S Greenblatt Ada Hamosh John M Hancock Ross Hardison Terence M Harrison Robert Hoffmann Rania Horaitis Heather J Howard Carol Isaacson Barash Neskuts Izagirre Jongsun Jung Toshio Kojima Sandrine Laradi Yeon-Su Lee Jong-Young Lee Vera L Gil-da-Silva-Lopes Finlay A Macrae Donna Maglott Makia J Marafie Steven G E Marsh Yoichi Matsubara Ludwine M Messiaen Gabriela Möslein Mihai G Netea Melissa L Norton Peter J Oefner William S Oetting James C O'Leary Ana Maria Oller de Ramirez Mark H Paalman Jillian Parboosingh George P Patrinos Giuditta Perozzi Ian R Phillips Sue Povey Suyash Prasad Ming Qi David J Quin Rajkumar S Ramesar C Sue Richards Judith Savige Dagmar G Scheible Rodney J Scott Daniela Seminara Elizabeth A Shephard Rolf H Sijmons Timothy D Smith María-Jesús Sobrido Toshihiro Tanaka Sean V Tavtigian Graham R Taylor Jon Teague Thoralf Töpel Mollie Ullman-Cullere Joji Utsunomiya Henk J van Kranen Mauno Vihinen Elizabeth Webb Thomas K Weber Meredith Yeager Young I Yeom Seon-Hee Yim Hyang-Sook Yoo

Hum Mutat 2009 Apr;30(4):496-510

Division of Personalised Nutrition and Medicine, FDA/National Center for Toxicological Research, Jefferson, Arkansas 72079, USA.

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http://compbio.berkeley.edu/people/brenner/pubs/kaput-2009-h
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http://doi.wiley.com/10.1002/humu.20972
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http://dx.doi.org/10.1002/humu.20972DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5879779PMC
April 2009

In silico analysis of missense substitutions using sequence-alignment based methods.

Hum Mutat 2008 Nov;29(11):1327-36

International Agency for Research on Cancer (IARC), Lyon, France.

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http://dx.doi.org/10.1002/humu.20892DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3431198PMC
November 2008

Impact of mutant p53 functional properties on TP53 mutation patterns and tumor phenotype: lessons from recent developments in the IARC TP53 database.

Hum Mutat 2007 Jun;28(6):622-9

Group of Molecular Carcinogenesis and Biomarkers, International Agency for Research on Cancer (IARC), World Health Organization, Lyon, France.

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http://doi.wiley.com/10.1002/humu.20495
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http://dx.doi.org/10.1002/humu.20495DOI Listing
June 2007

International Agency for Research on Cancer workshop on 'Expression array analyses in breast cancer taxonomy'.

Breast Cancer Res 2006 ;8(6):303

Genetic Susceptibility Group, Genetics and Epidemiology Cluster, International Agency for Research on Cancer World Health Organization 150 Cours Albert-Thomas, 69372 Lyon Cedex 08, France.

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http://dx.doi.org/10.1186/bcr1609DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1797037PMC
February 2007

Functional impact of missense variants in BRCA1 predicted by supervised learning.

PLoS Comput Biol 2007 Feb 28;3(2):e26. Epub 2006 Dec 28.

Department of Biomedical Engineering, Johns Hopkins University, Baltimore, Maryland, United States of America.

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http://dx.doi.org/10.1371/journal.pcbi.0030026DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1797820PMC
February 2007

Rare germ line CHEK2 variants identified in breast cancer families encode proteins that show impaired activation.

Cancer Res 2006 Sep;66(18):8966-70

Royal Marsden NHS Foundation Trust/The Institute of Cancer Research, Sutton, Surrey, United Kingdom.

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http://cancerres.aacrjournals.org/lookup/doi/10.1158/0008-54
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http://dx.doi.org/10.1158/0008-5472.CAN-06-1990DOI Listing
September 2006

An analysis of unclassified missense substitutions in human BRCA1.

Fam Cancer 2006 ;5(1):77-88

International Agency for Research on Cancer, Lyon, France.

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http://dx.doi.org/10.1007/s10689-005-2578-0DOI Listing
June 2006

Perspectives on the molecular epidemiology of aerodigestive tract cancers.

Mutat Res 2005 Dec 14;592(1-2):102-18. Epub 2005 Jul 14.

Genetics & Epidemiology Cluster, International Agency for Research on Cancer, 150 cours Albert Thomas, 69008 Lyon, France.

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http://dx.doi.org/10.1016/j.mrfmmm.2005.06.007DOI Listing
December 2005

Characterization of linkage disequilibrium structure, mutation history, and tagging SNPs, and their use in association analyses: ELAC2 and familial early-onset prostate cancer.

Genet Epidemiol 2005 Apr;28(3):232-43

Genetic Epidemiology Division, Department of Medical Informatics, University of Utah School of Medicine, Salt Lake City, Utah, USA.

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http://dx.doi.org/10.1002/gepi.20054DOI Listing
April 2005

Confirmation of the HPCX prostate cancer predisposition locus in large Utah prostate cancer pedigrees.

Hum Genet 2005 Feb 8;116(3):179-85. Epub 2004 Dec 8.

Genetic Epidemiology, Department of Medical Informatics, University of Utah, Salt Lake City, UT 84108, USA.

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http://dx.doi.org/10.1007/s00439-004-1220-9DOI Listing
February 2005

Functional evaluation and cancer risk assessment of BRCA2 unclassified variants.

Cancer Res 2005 Jan;65(2):417-26

Department of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, Rochester, MN 55905, USA.

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January 2005

Structure of primate and rodent orthologs of the prostate cancer susceptibility gene ELAC2.

Biochim Biophys Acta 2004 Sep;1679(3):230-47

Canada Research Chair in Oncogenetics and Cancer Genomics Laboratory, CHUL Research Center and Laval University, 2705 Laurier Boulevard, Sainte-Foy, Quebec City, Canada G1V 4G2.

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http://dx.doi.org/10.1016/j.bbaexp.2004.07.001DOI Listing
September 2004

The product of the candidate prostate cancer susceptibility gene ELAC2 interacts with the gamma-tubulin complex.

Int J Cancer 2003 Apr;104(3):283-8

DNAX Research Institute, Department of Oncology, Palo Alto, CA 94304, USA.

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http://doi.wiley.com/10.1002/ijc.10945
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http://dx.doi.org/10.1002/ijc.10945DOI Listing
April 2003