Brigitte Bressac de Paillerets

Brigitte Bressac de Paillerets

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Brigitte Bressac de Paillerets

Brigitte Bressac de Paillerets

Publications by authors named "Brigitte Bressac de Paillerets"

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Optimization of Next-Generation Sequencing Technologies for von Hippel Lindau (VHL) Mosaic Mutation Detection and Development of Confirmation Methods.

J Mol Diagn 2019 May 5;21(3):462-470. Epub 2019 Feb 5.

UMR-S 1172-Jean-Pierre Aubert Research Center, University of Lille, Lille, France; INSERM, UMR-S 1172, Team on Mucins, Epithelial Differentiation and Carcinogenesis, Lille, France; Department of Biochemistry and Molecular Biology, Centre Hospitalier Régional et Universitaire de Lille, Lille, France. Electronic address:

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http://dx.doi.org/10.1016/j.jmoldx.2019.01.005DOI Listing
May 2019

Comprehensive Study of the Clinical Phenotype of Germline BAP1 Variant-Carrying Families Worldwide.

J Natl Cancer Inst 2018 12;110(12):1328-1341

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

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http://dx.doi.org/10.1093/jnci/djy171DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6292796PMC
December 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

Occurrence of BAP1 germline mutations in cutaneous melanocytic tumors with loss of BAP1-expression: A pilot study.

Genes Chromosomes Cancer 2017 09 23;56(9):691-694. Epub 2017 Jun 23.

Département of Biopathology, Centre Leon Bérard, Lyon, France.

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http://dx.doi.org/10.1002/gcc.22473DOI Listing
September 2017

The MITF, p.E318K Variant, as a Risk Factor for Pheochromocytoma and Paraganglioma.

J Clin Endocrinol Metab 2016 12 28;101(12):4764-4768. Epub 2016 Sep 28.

INSERM (L.J.C.-V., S.R.K., N.K., A.B., L.A., N.B.-N., J.F., A.-P.G.-R.), UMR970, Paris-Cardiovascular Research Center, F-75015, Paris, France; Université Paris Descartes (L.J.C.-V., S.R.K., N.B., A.B., L.A., N.B.-N., J.F., A.-P.G.-R.), PRES Sorbonne Paris Cité, Faculté de Médecine, F-75006 Paris, France; Service de Génétique, Hôpital Européen Georges Pompidou, Assistance Publique-Hôpitaux de Paris (N.B., C.S., A.-P.G.-R.), F-75015, Paris, France; Unité Hypertension artérielle (L.A.), Hôpital Européen Georges Pompidou, Assistance Publique-Hôpitaux de Paris, F-75015, Paris, France; Département de Cancérologie endocrinienne and Université Paris-Saclay (A.B., M.S.), Gustave Roussy, Villejuif, F-94805, France; Université Paris 13 (P.G.), Equipe de Recherche en Epidémiologie Nutritionnelle (EREN), Centre d'Epidémiologie et Statistiques Sorbonne Paris Cité, INSERM (U1153), Inra (U1125), Cnam, COMUE Sorbonne Paris Cité, Bobigny; INSERM (B.B.-d.P.), U1186, Université Paris-Sud, Université Paris-Saclay, Villejuif, F-94805, France; Département de Biopathologie (B.B.-d.P.), Gustave Roussy, Villejuif, F-94805, France; and Rare Adrenal Cancer Network COMETE (L.A., A.-P.G.-R.), F-75006, Paris, France.

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http://dx.doi.org/10.1210/jc.2016-2103DOI Listing
December 2016

Genetic Testing for Melanoma-Where Are We With Moderate-Penetrance Genes?

JAMA Dermatol 2016 Apr;152(4):375-6

Service de Dermatologie, Centre Hospitaliser Lyon Sud, Pierre Bénite, France6Université Claude Bernard Lyon 1, Villeurbanne, France7Centre de Recherche sur le Cancer de Lyon, INSERM U1052-CNRS UMR5286, Centre Léon Bérard, Lyon, France.

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http://dx.doi.org/10.1001/jamadermatol.2015.4359DOI Listing
April 2016

PARKIN Inactivation Links Parkinson's Disease to Melanoma.

J Natl Cancer Inst 2016 Mar 17;108(3). Epub 2015 Dec 17.

Affiliations of authors: INSERM, U976, Centre de Recherche sur la Peau, Hôpital Saint Louis , Paris , France (HHH, JA, SM, LM, VD, NBS, MB, AB, CL, ND, NS); AP-HP, Hôpital Bichat Claude Bernard, Département de Génétique , Paris , France (HHH, CK, AT, BG, NS); Université Paris Diderot, Sorbonne Paris Cité , UMRS976, Paris , France (HHH, CK, JA, LM, NBS, MB, AB, LD, AT, BG, ND, NS); Université Paris 6, INSERM UMRS975, Centre de Recherche de l'Institut du Cerveau et de la Moelle Epinière, Hôpital Pitié-Salpêtrière, AP-HP , Paris , France (SL, AB); INSERM, U940, Laboratoire de Pharmacologie, Hôpital Saint Louis Paris , France (SM); AP-HP, Hôpital Bichat Claude Bernard, Service de Dermatologie , Paris , France (VD); AP-HP, Hôpital Saint Louis, Service de Dermatologie , Paris , France (NBS, MB, CL, ND); INSERM, CRB3, Département de Pathologie, Hôpital Bichat, AP-HP , Paris , France (LD); AP-HP, Hôpital Ambroise Paré, Service de Dermatologie , Boulogne Billancourt , France (PS); CHU Grenoble, Service de Dermatologie , Grenoble , France (MTL); Gustave Roussy, Service de Génétique, Département de Biopathologie , Villejuif , France (BBdP); Division of Molecular Genetic Epidemiology, German Cancer Research Center, Im Neuenheimer Feld 580 , Heidelberg , Germany (RK); Department of Neurology, University Hospital of Würzburg , Würzburg , Germany (SK); Inserm UMR1037, Centre de Recherche en Cancérologie de Toulouse , Toulouse , France (NAA); Hôpital de l'Hôtel-Dieu, Service de Dermatologie , Lyon , France (LT); AP-HP, Groupe Pitié-Salpêtrière, Département de Génétique, Cytogénétique et Embryologie , Paris , France (AB).

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http://dx.doi.org/10.1093/jnci/djv340DOI Listing
March 2016

Revisiting Li-Fraumeni Syndrome From TP53 Mutation Carriers.

J Clin Oncol 2015 Jul 26;33(21):2345-52. Epub 2015 May 26.

Gaëlle Bougeard, Mariette Renaux-Petel, Jean-Michel Flaman, Camille Charbonnier, Pierre Fermey, Julie Tinat, Stéphanie Baert-Desurmont, Thierry Frebourg, Institut National de la Santé et de la Recherche Médicale (Inserm) U1079, University of Rouen, Institute for Research and Innovation in Biomedicine; Julie Tinat, Stéphanie Baert-Desurmont, Thierry Frebourg, University Hospital, Rouen; Muriel Belotti, Marion Gauthier-Villars, Dominique Stoppa-Lyonnet, Curie Institute, Paris; Emilie Consolino, Laurence Brugières, Olivier Caron, Patrick R. Benusiglio, Brigitte Bressac-de Paillerets, Gustave Roussy Institute, Villejuif; Valérie Bonadona, Centre National de la Recherche Scientifique (CNRS) UMR 5558, University of Lyon 1, Leon Berard Cancer Center, Lyon; and Catherine Bonaïti-Pellié, Inserm UMR-S 669, University of Paris-Sud, Villejuif, France.

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http://jco.ascopubs.org/content/early/2015/05/22/JCO.2014.59
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http://jco.ascopubs.org/cgi/doi/10.1200/JCO.2014.59.5728
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http://dx.doi.org/10.1200/JCO.2014.59.5728DOI Listing
July 2015

Primary leptomeningeal melanoma is part of the BAP1-related cancer syndrome.

Acta Neuropathol 2015 Jun 22;129(6):921-3. Epub 2015 Apr 22.

Département de Biopathologie, Centre Léon Bérard, 28 rue Laennec, 69 373, Lyon Cedex 08, France,

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http://dx.doi.org/10.1007/s00401-015-1423-2DOI Listing
June 2015

A germline mutation in PBRM1 predisposes to renal cell carcinoma.

J Med Genet 2015 Jun 24;52(6):426-30. Epub 2015 Apr 24.

Ecole Pratique des Hautes Etudes, Paris, France Laboratoire de Génétique Oncologique EPHE, INSERM U753, Villejuif, France Faculté de Médecine Université Paris-Sud, Le Kremlin-Bicêtre, France.

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http://dx.doi.org/10.1136/jmedgenet-2014-102912DOI Listing
June 2015

A germline oncogenic MITF mutation and tumor susceptibility.

Eur J Cell Biol 2014 Jan-Feb;93(1-2):71-5. Epub 2013 Oct 26.

INSERM, U1065 (équipe 1), Equipe labélisée Ligue Contre le Cancer, C3M, 06204 Nice, France; University of Nice Sophia-Antipolis, UFR Médecine, 06204 Nice, France. Electronic address:

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http://dx.doi.org/10.1016/j.ejcb.2013.10.002DOI Listing
April 2015

Multiple skin hamartomata: a possible novel clinical presentation of SUFU neoplasia syndrome.

Fam Cancer 2015 Mar;14(1):151-5

Genetic Medicine and Familial Cancer Centre, Royal Melbourne Hospital, Grattan Street, Parkville, VIC, 3050, Australia,

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http://dx.doi.org/10.1007/s10689-014-9752-1DOI Listing
March 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

Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer.

Authors:
Stig E Bojesen Karen A Pooley Sharon E Johnatty Jonathan Beesley Kyriaki Michailidou Jonathan P Tyrer Stacey L Edwards Hilda A Pickett Howard C Shen Chanel E Smart Kristine M Hillman Phuong L Mai Kate Lawrenson Michael D Stutz Yi Lu Rod Karevan Nicholas Woods Rebecca L Johnston Juliet D French Xiaoqing Chen Maren Weischer Sune F Nielsen Melanie J Maranian Maya Ghoussaini Shahana Ahmed Caroline Baynes Manjeet K Bolla Qin Wang Joe Dennis Lesley McGuffog Daniel Barrowdale Andrew Lee Sue Healey Michael Lush Daniel C Tessier Daniel Vincent Françis Bacot Ignace Vergote Sandrina Lambrechts Evelyn Despierre Harvey A Risch Anna González-Neira Mary Anne Rossing Guillermo Pita Jennifer A Doherty Nuria Alvarez Melissa C Larson Brooke L Fridley Nils Schoof Jenny Chang-Claude Mine S Cicek Julian Peto Kimberly R Kalli Annegien Broeks Sebastian M Armasu Marjanka K Schmidt Linde M Braaf Boris Winterhoff Heli Nevanlinna Gottfried E Konecny Diether Lambrechts Lisa Rogmann Pascal Guénel Attila Teoman Roger L Milne Joaquin J Garcia Angela Cox Vijayalakshmi Shridhar Barbara Burwinkel Frederik Marme Rebecca Hein Elinor J Sawyer Christopher A Haiman Shan Wang-Gohrke Irene L Andrulis Kirsten B Moysich John L Hopper Kunle Odunsi Annika Lindblom Graham G Giles Hermann Brenner Jacques Simard Galina Lurie Peter A Fasching Michael E Carney Paolo Radice Lynne R Wilkens Anthony Swerdlow Marc T Goodman Hiltrud Brauch Montserrat Garcia-Closas Peter Hillemanns Robert Winqvist Matthias Dürst Peter Devilee Ingo Runnebaum Anna Jakubowska Jan Lubinski Arto Mannermaa Ralf Butzow Natalia V Bogdanova Thilo Dörk Liisa M Pelttari Wei Zheng Arto Leminen Hoda Anton-Culver Clareann H Bunker Vessela Kristensen Roberta B Ness Kenneth Muir Robert Edwards Alfons Meindl Florian Heitz Keitaro Matsuo Andreas du Bois Anna H Wu Philipp Harter Soo-Hwang Teo Ira Schwaab Xiao-Ou Shu William Blot Satoyo Hosono Daehee Kang Toru Nakanishi Mikael Hartman Yasushi Yatabe Ute Hamann Beth Y Karlan Suleeporn Sangrajrang Susanne Krüger Kjaer Valerie Gaborieau Allan Jensen Diana Eccles Estrid Høgdall Chen-Yang Shen Judith Brown Yin Ling Woo Mitul Shah Mat Adenan Noor Azmi Robert Luben Siti Zawiah Omar Kamila Czene Robert A Vierkant Børge G Nordestgaard Henrik Flyger Celine Vachon Janet E Olson Xianshu Wang Douglas A Levine Anja Rudolph Rachel Palmieri Weber Dieter Flesch-Janys Edwin Iversen Stefan Nickels Joellen M Schildkraut Isabel Dos Santos Silva Daniel W Cramer Lorna Gibson Kathryn L Terry Olivia Fletcher Allison F Vitonis C Ellen van der Schoot Elizabeth M Poole Frans B L Hogervorst Shelley S Tworoger Jianjun Liu Elisa V Bandera Jingmei Li Sara H Olson Keith Humphreys Irene Orlow Carl Blomqvist Lorna Rodriguez-Rodriguez Kristiina Aittomäki Helga B Salvesen Taru A Muranen Elisabeth Wik Barbara Brouwers Camilla Krakstad Els Wauters Mari K Halle Hans Wildiers Lambertus A Kiemeney Claire Mulot Katja K Aben Pierre Laurent-Puig Anne Mvan Altena Thérèse Truong Leon F A G Massuger Javier Benitez Tanja Pejovic Jose Ignacio Arias Perez Maureen Hoatlin M Pilar Zamora Linda S Cook Sabapathy P Balasubramanian Linda E Kelemen Andreas Schneeweiss Nhu D Le Christof Sohn Angela Brooks-Wilson Ian Tomlinson Michael J Kerin Nicola Miller Cezary Cybulski Brian E Henderson Janusz Menkiszak Fredrick Schumacher Nicolas Wentzensen Loic Le Marchand Hannah P Yang Anna Marie Mulligan Gord Glendon Svend Aage Engelholm Julia A Knight Claus K Høgdall Carmel Apicella Martin Gore Helen Tsimiklis Honglin Song Melissa C Southey Agnes Jager Ans M Wvan den Ouweland Robert Brown John W M Martens James M Flanagan Mieke Kriege James Paul Sara Margolin Nadeem Siddiqui Gianluca Severi Alice S Whittemore Laura Baglietto Valerie McGuire Christa Stegmaier Weiva Sieh Heiko Müller Volker Arndt France Labrèche Yu-Tang Gao Mark S Goldberg Gong Yang Martine Dumont John R McLaughlin Arndt Hartmann Arif B Ekici Matthias W Beckmann Catherine M Phelan Michael P Lux Jenny Permuth-Wey Bernard Peissel Thomas A Sellers Filomena Ficarazzi Monica Barile Argyrios Ziogas Alan Ashworth Aleksandra Gentry-Maharaj Michael Jones Susan J Ramus Nick Orr Usha Menon Celeste L Pearce Thomas Brüning Malcolm C Pike Yon-Dschun Ko Jolanta Lissowska Jonine Figueroa Jolanta Kupryjanczyk Stephen J Chanock Agnieszka Dansonka-Mieszkowska Arja Jukkola-Vuorinen Iwona K Rzepecka Katri Pylkäs Mariusz Bidzinski Saila Kauppila Antoinette Hollestelle Caroline Seynaeve Rob A E M Tollenaar Katarzyna Durda Katarzyna Jaworska Jaana M Hartikainen Veli-Matti Kosma Vesa Kataja Natalia N Antonenkova Jirong Long Martha Shrubsole Sandra Deming-Halverson Artitaya Lophatananon Pornthep Siriwanarangsan Sarah Stewart-Brown Nina Ditsch Peter Lichtner Rita K Schmutzler Hidemi Ito Hiroji Iwata Kazuo Tajima Chiu-Chen Tseng Daniel O Stram David van den Berg Cheng Har Yip M Kamran Ikram Yew-Ching Teh Hui Cai Wei Lu Lisa B Signorello Qiuyin Cai Dong-Young Noh Keun-Young Yoo Hui Miao Philip Tsau-Choong Iau Yik Ying Teo James McKay Charles Shapiro Foluso Ademuyiwa George Fountzilas Chia-Ni Hsiung Jyh-Cherng Yu Ming-Feng Hou Catherine S Healey Craig Luccarini Susan Peock Dominique Stoppa-Lyonnet Paolo Peterlongo Timothy R Rebbeck Marion Piedmonte Christian F Singer Eitan Friedman Mads Thomassen Kenneth Offit Thomas V O Hansen Susan L Neuhausen Csilla I Szabo Ignacio Blanco Judy Garber Steven A Narod Jeffrey N Weitzel Marco Montagna Edith Olah Andrew K Godwin Drakoulis Yannoukakos David E Goldgar Trinidad Caldes Evgeny N Imyanitov Laima Tihomirova Banu K Arun Ian Campbell Arjen R Mensenkamp Christi J van Asperen Kees E P van Roozendaal Hanne Meijers-Heijboer J Margriet Collée Jan C Oosterwijk Maartje J Hooning Matti A Rookus Rob B van der Luijt Theo A Mvan Os D Gareth Evans Debra Frost Elena Fineberg Julian Barwell Lisa Walker M John Kennedy Radka Platte Rosemarie Davidson Steve D Ellis Trevor Cole Brigitte Bressac-de Paillerets Bruno Buecher Francesca Damiola Laurence Faivre Marc Frenay Olga M Sinilnikova Olivier Caron Sophie Giraud Sylvie Mazoyer Valérie Bonadona Virginie Caux-Moncoutier Aleksandra Toloczko-Grabarek Jacek Gronwald Tomasz Byrski Amanda B Spurdle Bernardo Bonanni Daniela Zaffaroni Giuseppe Giannini Loris Bernard Riccardo Dolcetti Siranoush Manoukian Norbert Arnold Christoph Engel Helmut Deissler Kerstin Rhiem Dieter Niederacher Hansjoerg Plendl Christian Sutter Barbara Wappenschmidt Ake Borg Beatrice Melin Johanna Rantala Maria Soller Katherine L Nathanson Susan M Domchek Gustavo C Rodriguez Ritu Salani Daphne Gschwantler Kaulich Muy-Kheng Tea Shani Shimon Paluch Yael Laitman Anne-Bine Skytte Torben A Kruse Uffe Birk Jensen Mark Robson Anne-Marie Gerdes Bent Ejlertsen Lenka Foretova Sharon A Savage Jenny Lester Penny Soucy Karoline B Kuchenbaecker Curtis Olswold Julie M Cunningham Susan Slager Vernon S Pankratz Ed Dicks Sunil R Lakhani Fergus J Couch Per Hall Alvaro N A Monteiro Simon A Gayther Paul D P Pharoah Roger R Reddel Ellen L Goode Mark H Greene Douglas F Easton Andrew Berchuck Antonis C Antoniou Georgia Chenevix-Trench Alison M Dunning

Nat Genet 2013 Apr;45(4):371-84, 384e1-2

Copenhagen General Population Study, Herlev Hospital, Copenhagen University Hospital, University of Copenhagen, Copenhagen, Denmark.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3670748PMC
April 2013

Common variants at the 19p13.1 and ZNF365 loci are associated with ER subtypes of breast cancer and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers.

Authors:
Fergus J Couch Mia M Gaudet Antonis C Antoniou Susan J Ramus Karoline B Kuchenbaecker Penny Soucy Jonathan Beesley Xiaoqing Chen Xianshu Wang Tomas Kirchhoff Lesley McGuffog Daniel Barrowdale Andrew Lee Sue Healey Olga M Sinilnikova Irene L Andrulis Hilmi Ozcelik Anna Marie Mulligan Mads Thomassen Anne-Marie Gerdes Uffe Birk Jensen Anne-Bine Skytte Torben A Kruse Maria A Caligo Anna von Wachenfeldt Gisela Barbany-Bustinza Niklas Loman Maria Soller Hans Ehrencrona Per Karlsson Katherine L Nathanson Timothy R Rebbeck Susan M Domchek Ania Jakubowska Jan Lubinski Katarzyna Jaworska Katarzyna Durda Elzbieta Zlowocka Tomasz Huzarski Tomasz Byrski Jacek Gronwald Cezary Cybulski Bohdan Górski Ana Osorio Mercedes Durán María Isabel Tejada Javier Benitez Ute Hamann Frans B L Hogervorst Theo A van Os Flora E van Leeuwen Hanne E J Meijers-Heijboer Juul Wijnen Marinus J Blok Marleen Kets Maartje J Hooning Rogier A Oldenburg Margreet G E M Ausems Susan Peock Debra Frost Steve D Ellis Radka Platte Elena Fineberg D Gareth Evans Chris Jacobs Rosalind A Eeles Julian Adlard Rosemarie Davidson Diana M Eccles Trevor Cole Jackie Cook Joan Paterson Carole Brewer Fiona Douglas Shirley V Hodgson Patrick J Morrison Lisa Walker Mary E Porteous M John Kennedy Lucy E Side Betsy Bove Andrew K Godwin Dominique Stoppa-Lyonnet Marion Fassy-Colcombet Laurent Castera François Cornelis Sylvie Mazoyer Mélanie Léoné Nadia Boutry-Kryza Brigitte Bressac-de Paillerets Olivier Caron Pascal Pujol Isabelle Coupier Capucine Delnatte Linda Akloul Henry T Lynch Carrie L Snyder Saundra S Buys Mary B Daly Marybeth Terry Wendy K Chung Esther M John Alexander Miron Melissa C Southey John L Hopper David E Goldgar Christian F Singer Christine Rappaport Muy-Kheng M Tea Anneliese Fink-Retter Thomas V O Hansen Finn C Nielsen Aðalgeir Arason Joseph Vijai Sohela Shah Kara Sarrel Mark E Robson Marion Piedmonte Kelly Phillips Jack Basil Wendy S Rubinstein John Boggess Katie Wakeley Amanda Ewart-Toland Marco Montagna Simona Agata Evgeny N Imyanitov Claudine Isaacs Ramunas Janavicius Conxi Lazaro Ignacio Blanco Lidia Feliubadalo Joan Brunet Simon A Gayther Paul P D Pharoah Kunle O Odunsi Beth Y Karlan Christine S Walsh Edith Olah Soo Hwang Teo Patricia A Ganz Mary S Beattie Elizabeth J van Rensburg Cecelia M Dorfling Orland Diez Ava Kwong Rita K Schmutzler Barbara Wappenschmidt Christoph Engel Alfons Meindl Nina Ditsch Norbert Arnold Simone Heidemann Dieter Niederacher Sabine Preisler-Adams Dorothea Gadzicki Raymonda Varon-Mateeva Helmut Deissler Andrea Gehrig Christian Sutter Karin Kast Britta Fiebig Wolfram Heinritz Trinidad Caldes Miguel de la Hoya Taru A Muranen Heli Nevanlinna Marc D Tischkowitz Amanda B Spurdle Susan L Neuhausen Yuan Chun Ding Noralane M Lindor Zachary Fredericksen V Shane Pankratz Paolo Peterlongo Siranoush Manoukian Bernard Peissel Daniela Zaffaroni Monica Barile Loris Bernard Alessandra Viel Giuseppe Giannini Liliana Varesco Paolo Radice Mark H Greene Phuong L Mai Douglas F Easton Georgia Chenevix-Trench Kenneth Offit Jacques Simard

Cancer Epidemiol Biomarkers Prev 2012 Apr 20;21(4):645-57. Epub 2012 Feb 20.

Departments of Laboratory Medicine and Pathology, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA.

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http://dx.doi.org/10.1158/1055-9965.EPI-11-0888DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3319317PMC
April 2012

[MITF: a genetic key to melanoma and renal cell carcinoma?].

Med Sci (Paris) 2012 Mar 6;28(3):258-61. Epub 2012 Apr 6.

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http://dx.doi.org/10.1051/medsci/2012283010DOI Listing
March 2012

Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers.

Authors:
Antonis C Antoniou Karoline B Kuchenbaecker Penny Soucy Jonathan Beesley Xiaoqing Chen Lesley McGuffog Andrew Lee Daniel Barrowdale Sue Healey Olga M Sinilnikova Maria A Caligo Niklas Loman Katja Harbst Annika Lindblom Brita Arver Richard Rosenquist Per Karlsson Kate Nathanson Susan Domchek Tim Rebbeck Anna Jakubowska Jan Lubinski Katarzyna Jaworska Katarzyna Durda Elżbieta Złowowcka-Perłowska Ana Osorio Mercedes Durán Raquel Andrés Javier Benítez Ute Hamann Frans B Hogervorst Theo A van Os Senno Verhoef Hanne E J Meijers-Heijboer Juul Wijnen Encarna B Gómez Garcia Marjolijn J Ligtenberg Mieke Kriege J Margriet Collée Margreet G E M Ausems Jan C Oosterwijk Susan Peock Debra Frost Steve D Ellis Radka Platte Elena Fineberg D Gareth Evans Fiona Lalloo Chris Jacobs Ros Eeles Julian Adlard Rosemarie Davidson Trevor Cole Jackie Cook Joan Paterson Fiona Douglas Carole Brewer Shirley Hodgson Patrick J Morrison Lisa Walker Mark T Rogers Alan Donaldson Huw Dorkins Andrew K Godwin Betsy Bove Dominique Stoppa-Lyonnet Claude Houdayer Bruno Buecher Antoine de Pauw Sylvie Mazoyer Alain Calender Mélanie Léoné Brigitte Bressac-de Paillerets Olivier Caron Hagay Sobol Marc Frenay Fabienne Prieur Sandra U Ferrer Isabelle Mortemousque Saundra Buys Mary Daly Alexander Miron Mary U Terry John L Hopper Esther M John Melissa Southey David Goldgar Christian F Singer Anneliese Fink-Retter Muy-Kheng Tea Daphne U Kaulich Thomas V Hansen Finn C Nielsen Rosa B Barkardottir Mia Gaudet Tomas Kirchhoff Vijai Joseph Ana Dutra-Clarke Kenneth Offit Marion Piedmonte Judy Kirk David Cohn Jean Hurteau John Byron James Fiorica Amanda E Toland Marco Montagna Cristina Oliani Evgeny Imyanitov Claudine Isaacs Laima Tihomirova Ignacio Blanco Conxi Lazaro Alex Teulé J Del Valle Simon A Gayther Kunle Odunsi Jenny Gross Beth Y Karlan Edith Olah Soo-Hwang Teo Patricia A Ganz Mary S Beattie Cecelia M Dorfling Elizabeth U van Rensburg Orland Diez Ava Kwong Rita K Schmutzler Barbara Wappenschmidt Christoph Engel Alfons Meindl Nina Ditsch Norbert Arnold Simone Heidemann Dieter Niederacher Sabine Preisler-Adams Dorothea Gadzicki Raymonda Varon-Mateeva Helmut Deissler Andrea Gehrig Christian Sutter Karin Kast Britta Fiebig Dieter Schäfer Trinidad Caldes Miguel de la Hoya Heli Nevanlinna Taru A Muranen Bernard Lespérance Amanda B Spurdle Susan L Neuhausen Yuan C Ding Xianshu Wang Zachary Fredericksen Vernon S Pankratz Noralane M Lindor Paolo Peterlongo Siranoush Manoukian Bernard Peissel Daniela Zaffaroni Bernardo Bonanni Loris Bernard Riccardo Dolcetti Laura Papi Laura Ottini Paolo Radice Mark H Greene Jennifer T Loud Irene L Andrulis Hilmi Ozcelik Anna U Mulligan Gord Glendon Mads Thomassen Anne-Marie Gerdes Uffe B Jensen Anne-Bine Skytte Torben A Kruse Georgia Chenevix-Trench Fergus J Couch Jacques Simard Douglas F Easton

Breast Cancer Res 2012 Feb 20;14(1):R33. Epub 2012 Feb 20.

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

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http://dx.doi.org/10.1186/bcr3121DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3496151PMC
February 2012

Common variants of the BRCA1 wild-type allele modify the risk of breast cancer in BRCA1 mutation carriers.

Authors:
David G Cox Jacques Simard Daniel Sinnett Yosr Hamdi Penny Soucy Manon Ouimet Laure Barjhoux Carole Verny-Pierre Lesley McGuffog Sue Healey Csilla Szabo Mark H Greene Phuong L Mai Irene L Andrulis Mads Thomassen Anne-Marie Gerdes Maria A Caligo Eitan Friedman Yael Laitman Bella Kaufman Shani S Paluch Åke Borg Per Karlsson Marie Stenmark Askmalm Gisela Barbany Bustinza Katherine L Nathanson Susan M Domchek Timothy R Rebbeck Javier Benítez Ute Hamann Matti A Rookus Ans M W van den Ouweland Margreet G E M Ausems Cora M Aalfs Christi J van Asperen Peter Devilee Hans J J P Gille Susan Peock Debra Frost D Gareth Evans Ros Eeles Louise Izatt Julian Adlard Joan Paterson Jacqueline Eason Andrew K Godwin Marie-Alice Remon Virginie Moncoutier Marion Gauthier-Villars Christine Lasset Sophie Giraud Agnès Hardouin Pascaline Berthet Hagay Sobol François Eisinger Brigitte Bressac de Paillerets Olivier Caron Capucine Delnatte David Goldgar Alex Miron Hilmi Ozcelik Saundra Buys Melissa C Southey Mary Beth Terry Christian F Singer Anne-Catharina Dressler Muy-Kheng Tea Thomas V O Hansen Oskar Johannsson Marion Piedmonte Gustavo C Rodriguez Jack B Basil Stephanie Blank Amanda E Toland Marco Montagna Claudine Isaacs Ignacio Blanco Simon A Gayther Kirsten B Moysich Rita K Schmutzler Barbara Wappenschmidt Christoph Engel Alfons Meindl Nina Ditsch Norbert Arnold Dieter Niederacher Christian Sutter Dorothea Gadzicki Britta Fiebig Trinidad Caldes Rachel Laframboise Heli Nevanlinna Xiaoqing Chen Jonathan Beesley Amanda B Spurdle Susan L Neuhausen Yuan C Ding Fergus J Couch Xianshu Wang Paolo Peterlongo Siranoush Manoukian Loris Bernard Paolo Radice Douglas F Easton Georgia Chenevix-Trench Antonis C Antoniou Dominique Stoppa-Lyonnet Sylvie Mazoyer Olga M Sinilnikova

Hum Mol Genet 2011 Dec 2;20(23):4732-47. Epub 2011 Sep 2.

INSERM U1052, CNRS UMR5286, Université Lyon 1, Cancer Research Center of Lyon, Lyon, France.

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http://www.hmg.oxfordjournals.org/cgi/doi/10.1093/hmg/ddr388
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http://dx.doi.org/10.1093/hmg/ddr388DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3733139PMC
December 2011

Genome-wide association study identifies three new melanoma susceptibility loci.

Nat Genet 2011 Oct 9;43(11):1108-13. Epub 2011 Oct 9.

Section of Epidemiology and Biostatistics, Leeds Institute of Molecular Medicine, Leeds Cancer Research UK Centre, St James’s University Hospital, Leeds, UK.

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http://dx.doi.org/10.1038/ng.959DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3251256PMC
October 2011

A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma.

Authors:
Corine Bertolotto Fabienne Lesueur Sandy Giuliano Thomas Strub Mahaut de Lichy Karine Bille Philippe Dessen Benoit d'Hayer Hamida Mohamdi Audrey Remenieras Eve Maubec Arnaud de la Fouchardière Vincent Molinié Pierre Vabres Stéphane Dalle Nicolas Poulalhon Tanguy Martin-Denavit Luc Thomas Pascale Andry-Benzaquen Nicolas Dupin Françoise Boitier Annick Rossi Jean-Luc Perrot Bruno Labeille Caroline Robert Bernard Escudier Olivier Caron Laurence Brugières Simon Saule Betty Gardie Sophie Gad Stéphane Richard Jérôme Couturier Bin Tean Teh Paola Ghiorzo Lorenza Pastorino Susana Puig Celia Badenas Hakan Olsson Christian Ingvar Etienne Rouleau Rosette Lidereau Philippe Bahadoran Philippe Vielh Eve Corda Hélène Blanché Diana Zelenika Pilar Galan François Aubin Bertrand Bachollet Céline Becuwe Pascaline Berthet Yves Jean Bignon Valérie Bonadona Jean-Louis Bonafe Marie-Noëlle Bonnet-Dupeyron Fréderic Cambazard Jacqueline Chevrant-Breton Isabelle Coupier Sophie Dalac Liliane Demange Michel d'Incan Catherine Dugast Laurence Faivre Lynda Vincent-Fétita Marion Gauthier-Villars Brigitte Gilbert Florent Grange Jean-Jacques Grob Philippe Humbert Nicolas Janin Pascal Joly Delphine Kerob Christine Lasset Dominique Leroux Julien Levang Jean-Marc Limacher Cristina Livideanu Michel Longy Alain Lortholary Dominique Stoppa-Lyonnet Sandrine Mansard Ludovic Mansuy Karine Marrou Christine Matéus Christine Maugard Nicolas Meyer Catherine Nogues Pierre Souteyrand Laurence Venat-Bouvet Hélène Zattara Valérie Chaudru Gilbert M Lenoir Mark Lathrop Irwin Davidson Marie-Françoise Avril Florence Demenais Robert Ballotti Brigitte Bressac-de Paillerets

Nature 2011 Oct 19;480(7375):94-8. Epub 2011 Oct 19.

1] INSERM, U895 (équipe 1), Equipe labélisée Ligue Contre le Cancer, C3M, 06204 Nice, France [2] Université of Nice Sophia-Antipolis, UFR Médecine, 06204 Nice, France [3] Centre Hospitalier Universitaire de Nice, Service de Dermatologie, 06204 Nice, France [4].

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October 2011

International distribution and age estimation of the Portuguese BRCA2 c.156_157insAlu founder mutation.

Breast Cancer Res Treat 2011 Jun 22;127(3):671-9. Epub 2010 Jul 22.

Department of Genetics, Portuguese Oncology Institute, Rua Dr. António Bernardino de Almeida, Porto 4200-072, Portugal.

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June 2011

Four novel RET germline variants in exons 8 and 11 display an oncogenic potential in vitro.

Eur J Endocrinol 2010 Apr 26;162(4):771-7. Epub 2010 Jan 26.

Dipartimento di Scienze Mediche, Università degli Studi di Milano, 20122 Milan, Italy.

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http://dx.doi.org/10.1530/EJE-09-0929DOI Listing
April 2010

Common variants in LSP1, 2q35 and 8q24 and breast cancer risk for BRCA1 and BRCA2 mutation carriers.

Authors:
Antonis C Antoniou Olga M Sinilnikova Lesley McGuffog Sue Healey Heli Nevanlinna Tuomas Heikkinen Jacques Simard Amanda B Spurdle Jonathan Beesley Xiaoqing Chen Susan L Neuhausen Yuan C Ding Fergus J Couch Xianshu Wang Zachary Fredericksen Paolo Peterlongo Bernard Peissel Bernardo Bonanni Alessandra Viel Loris Bernard Paolo Radice Csilla I Szabo Lenka Foretova Michal Zikan Kathleen Claes Mark H Greene Phuong L Mai Gad Rennert Flavio Lejbkowicz Irene L Andrulis Hilmi Ozcelik Gord Glendon Anne-Marie Gerdes Mads Thomassen Lone Sunde Maria A Caligo Yael Laitman Tair Kontorovich Shimrit Cohen Bella Kaufman Efrat Dagan Ruth Gershoni Baruch Eitan Friedman Katja Harbst Gisela Barbany-Bustinza Johanna Rantala Hans Ehrencrona Per Karlsson Susan M Domchek Katherine L Nathanson Ana Osorio Ignacio Blanco Adriana Lasa Javier Benítez Ute Hamann Frans B L Hogervorst Matti A Rookus J Margriet Collee Peter Devilee Marjolijn J Ligtenberg Rob B van der Luijt Cora M Aalfs Quinten Waisfisz Juul Wijnen Cornelis E P van Roozendaal Susan Peock Margaret Cook Debra Frost Clare Oliver Radka Platte D Gareth Evans Fiona Lalloo Rosalind Eeles Louise Izatt Rosemarie Davidson Carol Chu Diana Eccles Trevor Cole Shirley Hodgson Andrew K Godwin Dominique Stoppa-Lyonnet Bruno Buecher Mélanie Léoné Brigitte Bressac-de Paillerets Audrey Remenieras Olivier Caron Gilbert M Lenoir Nicolas Sevenet Michel Longy Sandra Fert Ferrer Fabienne Prieur David Goldgar Alexander Miron Esther M John Saundra S Buys Mary B Daly John L Hopper Mary Beth Terry Yosuf Yassin Christian Singer Daphne Gschwantler-Kaulich Christine Staudigl Thomas v O Hansen Rosa Bjork Barkardottir Tomas Kirchhoff Prodipto Pal Kristi Kosarin Kenneth Offit Marion Piedmonte Gustavo C Rodriguez Katie Wakeley John F Boggess Jack Basil Peter E Schwartz Stephanie V Blank Amanda E Toland Marco Montagna Cinzia Casella Evgeny N Imyanitov Anna Allavena Rita K Schmutzler Beatrix Versmold Christoph Engel Alfons Meindl Nina Ditsch Norbert Arnold Dieter Niederacher Helmut Deissler Britta Fiebig Christian Suttner Ines Schönbuchner Dorothea Gadzicki Trinidad Caldes Miguel de la Hoya Karen A Pooley Douglas F Easton Georgia Chenevix-Trench

Hum Mol Genet 2009 Nov 5;18(22):4442-56. Epub 2009 Aug 5.

Department of Public Health and Primary Care, Cancer Research UK Genetic Epidemiology Unit, University of Cambridge, Cambridge, UK.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2782243PMC
November 2009

Familial non-VHL clear cell (conventional) renal cell carcinoma: clinical features, segregation analysis, and mutation analysis of FLCN.

Clin Cancer Res 2008 Sep;14(18):5925-30

Cancer Research UK Renal Molecular Oncology Group and Department of Medical and Molecular Genetics, University of Birmingham and West Midlands Regional Genetics Service, Birmingham Women's Hospital, United Kingdom.

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http://dx.doi.org/10.1158/1078-0432.CCR-08-0608DOI Listing
September 2008

Common breast cancer-predisposition alleles are associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers.

Am J Hum Genet 2008 Apr 20;82(4):937-48. Epub 2008 Mar 20.

Cancer Research UK, Genetic Epidemiology Unit, Department of Public Health and Primary Care, University of Cambridge, UK.

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http://dx.doi.org/10.1016/j.ajhg.2008.02.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2427217PMC
April 2008

Melanocortin-1 receptor (MC1R) gene variants and dysplastic nevi modify penetrance of CDKN2A mutations in French melanoma-prone pedigrees.

Cancer Epidemiol Biomarkers Prev 2005 Oct;14(10):2384-90

Institut National de la Sante et de la Recherche Medicale, Université d'Evry, EMI 0006, Tour Evry 2, 523 Place des Terrasses de l'Agora, 91034 Evry, France.

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October 2005

Soft tissue sarcomas. Case 3. Gastrointestinal stromal tumor and Carney's triad.

J Clin Oncol 2004 May;22(10):2029-31

Department of Pathology, Institute Gustave-Roussy, Villejuif, France.

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http://dx.doi.org/10.1200/JCO.2004.07.152DOI Listing
May 2004

CDKN2A as a uveal and cutaneous melanoma susceptibility gene.

Genes Chromosomes Cancer 2003 Nov;38(3):265-8

Service de Génétique, Institut Gustave Roussy, Villejuif, France.

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http://dx.doi.org/10.1002/gcc.10286DOI Listing
November 2003

Impact of gene patents on the cost-effective delivery of care: the case of BRCA1 genetic testing.

Int J Technol Assess Health Care 2003 ;19(2):287-300

National Institute for Health and Medical Research, INSERM Unit 379, Institut Paoli-Calmettes, Marseilles, France.

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http://dx.doi.org/10.1017/s0266462303000266DOI Listing
August 2003

eMelanoBase: an online locus-specific variant database for familial melanoma.

Hum Mutat 2003 Jan;21(1):2-7

Westmead Institute for Cancer Research, University of Sydney, Westmead Millennium Institute, Westmead, NSW, Australia.

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http://dx.doi.org/10.1002/humu.10149DOI Listing
January 2003

Genetic testing for melanoma.

Lancet Oncol 2002 Nov;3(11):653-4

Westmead Institute for Cancer Research, University of Sydney, Westmead Millennium Institute, New South Wales, 2145, Australia.

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http://dx.doi.org/10.1016/s1470-2045(02)00894-xDOI Listing
November 2002

Testing for BRCA1 mutations: a cost-effectiveness analysis.

Eur J Hum Genet 2002 Oct;10(10):599-606

INSERM U379, Paoli-Calmettes Institute, Marseilles, France.

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http://dx.doi.org/10.1038/sj.ejhg.5200854DOI Listing
October 2002

Hereditary breast cancer associated with a germline BRCA2 mutation in identical female twins with similar disease expression.

Cancer Genet Cytogenet 2002 Feb;133(1):24-8

Servicio de Oncología Clínica, Hospital de Clínicas, Universidad de la República, Avda. Italia s/n, Montevideo, Uruguay.

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http://dx.doi.org/10.1016/s0165-4608(01)00541-6DOI Listing
February 2002

Genetic and environmental factors in cutaneous malignant melanoma.

Biochimie 2002 Jan;84(1):67-74

Service de génétique, Institut Gustave Roussy, Villejuif, France.

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http://dx.doi.org/10.1016/s0300-9084(01)01360-8DOI Listing
January 2002