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

Timothy Rebbeck; Tara Friebel; Eitan Friedman; Ute Hamann; Dezheng Huo; Ava Kwong; Edith Olah; Olufunmilayo Olopade; Angela Solano; Soo-Hwang Teo; Mads Thomassen; Jeffrey Weitzel; Tl Chan; Fergus Couch; David E. Goldgar; Torben A. Kruse; Edenir Inêz Palmero; Sue Kyung Park; Diana Torres; Elizabeth Jansen van Rensburg; Lesley Mcguffog; Michael Parsons; Goska Leslie; Cora Aalfs; Julio Abugattas; Julian Adlard; Simona Agata; Kristiina Aittomäki; Lesley Andrews; Irene Andrulis; Adalgeir Arason; Norbert Arnold; Banu Arun; Ella Asseryanis; Leo Auerbach; Jacopo Azzollini; Judith Balmaña; Monica Barile; Rosa Barkardottir; Daniel Barrowdale; Javier Benitez; Andreas Berger; Raanan Berger; Amie Blanco; Kathleen Blazer; Marinus Blok; Valérie Bonadona; Bernardo Bonanni; Angela Bradbury; Carole Brewer; Bruno Buecher; Saundra Buys; Trinidad Caldés; Almuth Caliebe; Maria Adelaide Caligo; Ian Campbell; Sandrine Caputo; Jocelyne Chiquette; Wendy Chung; Kathleen 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 Domchek; Cecilia 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; Lídia Feliubadaló; Sandra Fert Ferrer; Lenka Foretova; Jeffrey Fowler; Debra Frost; Henrique Galvão; Patricia Ganz; Judy Garber; Marion Gauthier-Villars; Andrea Gehrig; Anne-Marie Gerdes; Paul Gesta; Giuseppe Giannini; Sophie Giraud; Gord Glendon; Andrew Godwin; Mark Greene; Jacek Gronwald; Angelica Gutierrez-Barrera; Eric Hahnen; Jan Hauke; Alex Henderson; Julia Hentschel; Frans Hogervorst; Ellen Honisch; Evgeny Imyanitov; Claudine Isaacs; Louise Izatt; Angel Izquierdo; Anna Jakubowska; Paul James; Ramunas Janavicius; Uffe Birk Jensen; Esther John; Joseph Vijai; Katarzyna Kaczmarek; Beth Karlan; Karin Kast; Sung-Won Kim; Irene Konstantopoulou; Jacob Korach; Yael Laitman; Adriana Lasa; Christine Lasset; Conxi Lazaro; Annette Lee; Min Hyuk Lee; Jenny Lester; Fabienne Lesueur; Annelie Liljegren; Noralane Lindor; Michel Longy; Jennifer Loud; Karen Lu; Jan Lubinski; Eva Machackova; Siranoush Manoukian; Veronique Mari; Cristina Martínez-Bouzas; Zoltan Matrai; Noura Mebirouk; Hanne Meijers-Heijboer; Alfons Meindl; Arjen Mensenkamp; Ugnius Mickys; Austin Miller; Marco Montagna; Kirsten Moysich; Anna Marie Mulligan; Jacob Musinsky; Susan Neuhausen; Heli Nevanlinna; Joanne Ngeow; Huu Phuc Nguyen; Dieter Niederacher; Henriette Roed Nielsen; Finn Cilius Nielsen; Robert Nussbaum; Kenneth Offit; Anna Öfverholm; Kai-Ren Ong; Ana Osorio; Laura Papi; Janos Papp; Barbara Pasini; Inge Søkilde Pedersen; Ana Peixoto; Nina Peruga; Paolo Peterlongo; Esther Pohl; Nisha Pradhan; Karolina Prajzendanc; Fabienne Prieur; Pascal Pujol; Paolo Radice; Susan Ramus; Johanna Rantala; Muhammad Usman Rashid; Kerstin Rhiem; Mark Robson; Gustavo Rodriguez; Mark Rogers; Vilius Rudaitis; Ane Schmidt; Rita Katharina Schmutzler; Leigha Senter; Payal Shah; Priyanka Sharma; Lucy Side; Jacques Simard; Christian Singer; Anne-Bine Skytte; Thomas Slavin; Katie Snape; Hagay Sobol; Melissa Southey; Linda Steele; Doris Steinemann; Grzegorz Sukiennicki; Christian Sutter; Csilla Szabo; Yen Tan; Manuel R Teixeira; Mary Beth Terry; Alex Teulé; Abigail Thomas; Darcy Thull; Marc Tischkowitz; Silvia Tognazzo; Amanda Ewart Toland; Sabine Topka; Alison Trainer; Nadine Tung; Christi van Asperen; Annemieke van Der Hout; Lizet van Der Kolk; Rob 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 Weber; Drakoulis Yannoukakos; Sook-Yee Yoon; Cristina Zanzottera; Jamal Zidan; Kristin Zorn; Christina Hutten Selkirk; Peter Hulick; Georgia Chenevix-Trench; Amanda Spurdle; Antonis C. Antoniou; Katherine Nathanson

doi:10.1002/humu.23406

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

Journal article

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

Timothy Rebbeck, Tara Friebel, Eitan Friedman, Ute Hamann, Dezheng Huo, Ava Kwong, Edith Olah, Olufunmilayo Olopade, Angela Solano, Soo-Hwang Teo, …

Human Mutation, Vol.39(5), pp.593-620

05/2018

DOI: https://doi.org/10.1002/humu.23406

PMCID: PMC5903938

PMID: 29446198

Abstract

BRCA1

BRCA2

breast cancer

ethnicity

geography

mutation

ovarian cancer

The prevalence and spectrum of germline mutations in BRCA1 and BRCA2 have been reported in single populations, with the majority of reports focused on White in Europe and North America. The Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA) has assembled data on 18,435 families with BRCA1 mutations and 11,351 families with BRCA2 mutations ascertained from 69 centers in 49 countries on six continents. This study comprehensively describes the characteristics of the 1,650 unique BRCA1 and 1,731 unique BRCA2 deleterious (disease-associated) mutations identified in the CIMBA database. We observed substantial variation in mutation type and frequency by geographical region and race/ethnicity. In addition to known founder mutations, mutations of relatively high frequency were identified in specific racial/ethnic or geographic groups that may reflect founder mutations and which could be used in targeted (panel) first pass genotyping for specific populations. Knowledge of the population-specific mutational spectrum in BRCA1 and BRCA2 could inform efficient strategies for genetic testing and may justify a more broad-based oncogenetic testing in some populations.

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Title: Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations
Creators - without role: Timothy Rebbeck - Boston University
Tara Friebel - Boston University
Eitan Friedman - Tel Aviv University
Ute Hamann - German Cancer Research Center
Dezheng Huo - University of Chicago
Ava Kwong - Hong Kong Sanatorium and Hospital
Edith Olah - National Institute of Oncology
Olufunmilayo Olopade - University of Chicago
Angela Solano - Consejo Nacional de Investigaciones Científicas y Técnicas
Soo-Hwang Teo
Mads Thomassen - Odense University Hospital
Jeffrey Weitzel - City of Hope
Tl Chan - Hong Kong Sanatorium and Hospital
Fergus Couch
David E. Goldgar - University of Utah
Torben A. Kruse - Odense University Hospital
Edenir Inêz Palmero - Hospital São Paulo
Sue Kyung Park - Seoul National University
Diana Torres - Heidelberg University
Elizabeth Jansen van Rensburg - University of Pretoria
Lesley Mcguffog - University of Cambridge
Michael Parsons - QIMR Berghofer Medical Research Institute
Goska Leslie - University of Cambridge
Cora Aalfs - Academic Medical Center
Julio Abugattas - Research Network
Julian Adlard - Chapel Allerton Hospital
Simona Agata - Istituto Oncologico Veneto
Kristiina Aittomäki - Helsinki University Hospital
Lesley Andrews - Prince of Wales Hospital
Irene Andrulis - University of Toronto
Adalgeir Arason
Norbert Arnold - Medical University of Vienna
Banu Arun - The University of Texas MD Anderson Cancer Center
Ella Asseryanis - Medical University of Vienna
Leo Auerbach - Medical University of Vienna
Jacopo Azzollini - Fondazione IRCCS Istituto Nazionale dei Tumori
Judith Balmaña - Vall d'Hebron Hospital Universitari
Monica Barile - European Institute of Oncology
Rosa Barkardottir - University of Iceland
Daniel Barrowdale - University of Cambridge
Javier Benitez
Andreas Berger - Comprehensive Cancer Center Vienna
Raanan Berger - Sheba Medical Center
Amie Blanco - Cancer Genetics
Kathleen Blazer - City of Hope
Marinus Blok - Maastricht University
Valérie Bonadona - Centre Léon Bérard
Bernardo Bonanni - European Institute of Oncology
Angela Bradbury - University of Pennsylvania
Carole Brewer - Royal Devon and Exeter Hospital
Bruno Buecher - Institut Curie
Saundra Buys - Huntsman Cancer Institute
Trinidad Caldés - Centro de Investigación Biomédica en Red de Cáncer
Almuth Caliebe - University Hospital Schleswig-Holstein
Maria Adelaide Caligo - Azienda Ospedaliera Universitaria Pisana
Ian Campbell - Peter MacCallum Cancer Centre
Sandrine Caputo - Institut Curie
Jocelyne Chiquette - Hôpital du Saint-Sacrement
Wendy Chung - Columbia University
Kathleen Claes - Ghent University
J Margriet Collée - Erasmus MC
Jackie Cook - Sheffield Children's Hospital
Rosemarie Davidson
Miguel de La Hoya - Hospital Clínico San Carlos
Kim de Leeneer - Ghent University
Antoine de Pauw - Institut Curie
Capucine Delnatte - Institut Génétique Nantes Atlantique
Orland Diez
Yuan Chun Ding - City of Hope
Nina Ditsch - Ludwig-Maximilians-Universität München
Susan Domchek - University of Pennsylvania
Cecilia Dorfling - University of Pretoria
Carolina Velazquez - Instituto de Biomedicina y Genética Molecular de Valladolid
Bernd Dworniczak - University of Münster
Jacqueline Eason - Nottingham University Hospitals NHS Trust
Douglas F. Easton - University of Cambridge
Ros Eeles
Hans Ehrencrona - Lund University
Bent Ejlertsen - Copenhagen University Hospital
Christoph Engel - Leipzig University
Stefanie Engert - Klinikum rechts der Isar
D Gareth Evans - Manchester Academic Health Science Centre
Laurence Faivre - Genomic and Immunotherapy Medical Institute
Lídia Feliubadaló - Institut d'Investigació Biomédica de Bellvitge
Sandra Fert Ferrer - Centre Hospitalier Métropole Savoie
Lenka Foretova - Masaryk Memorial Cancer Institute
Jeffrey Fowler - Columbus State University
Debra Frost - University of Cambridge
Henrique Galvão
Patricia Ganz - UCLA Jonsson Comprehensive Cancer Center
Judy Garber - Dana-Farber Cancer Institute
Marion Gauthier-Villars - Institut Curie
Andrea Gehrig - University of Würzburg
Anne-Marie Gerdes
Paul Gesta - Centre Hospitalier de Niort
Giuseppe Giannini - Istituto Pasteur
Sophie Giraud - Centre Léon Bérard
Gord Glendon - Lunenfeld-Tanenbaum Research Institute
Andrew Godwin - University of Kansas Medical Center
Mark Greene - National Institutes of Health
Jacek Gronwald - Pomeranian Medical University
Angelica Gutierrez-Barrera - The University of Texas MD Anderson Cancer Center
Eric Hahnen - University Hospital Cologne
Jan Hauke - University Hospital Cologne
Alex Henderson - Newcastle upon Tyne Hospital
Julia Hentschel - Leipzig University
Frans Hogervorst
Ellen Honisch - Heinrich Heine University Düsseldorf
Evgeny Imyanitov - Institute of Oncology NN Petrov
Claudine Isaacs - Georgetown University
Louise Izatt - Guy's and St Thomas' NHS Foundation Trust
Angel Izquierdo - Institut Català d'Oncologia
Anna Jakubowska - Pomeranian Medical University
Paul James - Peter MacCallum Cancer Centre
Ramunas Janavicius - Vilnius University
Uffe Birk Jensen - Aarhus University Hospital
Esther John - Cancer Prevention Institute of California
Joseph Vijai - Memorial Sloan Kettering Cancer Center
Katarzyna Kaczmarek - Pomeranian Medical University
Beth Karlan - Cedars-Sinai Medical Center
Karin Kast - University Hospital Carl Gustav Carus
Sung-Won Kim - Seoul St. Mary's Hospital
Irene Konstantopoulou - National Centre of Scientific Research "Demokritos"
Jacob Korach - Sheba Medical Center
Yael Laitman - Sheba Medical Center
Adriana Lasa - Hospital de Sant Pau
Christine Lasset - Centre Léon Bérard
Conxi Lazaro - Institut Català d'Oncologia
Annette Lee - Feinstein Institute for Medical Research
Min Hyuk Lee - Soonchunhyang University Hospital
Jenny Lester - Cedars-Sinai Medical Center
Fabienne Lesueur - Inserm
Annelie Liljegren - Karolinska Institutet
Noralane Lindor - Mayo Clinic in Arizona
Michel Longy - Institut Bergonié
Jennifer Loud - National Institutes of Health
Karen Lu - Cancer Genetics
Jan Lubinski - Pomeranian Medical University
Eva Machackova - Masaryk Memorial Cancer Institute
Siranoush Manoukian - Fondazione IRCCS Istituto Nazionale dei Tumori
Veronique Mari - Centre Antoine Lacassagne
Cristina Martínez-Bouzas - BioCruces Health research Institute
Zoltan Matrai - National Institute of Oncology
Noura Mebirouk - Institut Curie
Hanne Meijers-Heijboer - Amsterdam UMC Location VUmc
Alfons Meindl - Klinikum rechts der Isar
Arjen Mensenkamp - Radboud University Nijmegen
Ugnius Mickys - Vilnius University Hospital Santariskiu Klinikos
Austin Miller - Roswell Park Comprehensive Cancer Center
Marco Montagna - Istituto Oncologico Veneto
Kirsten Moysich - Roswell Park Comprehensive Cancer Center
Anna Marie Mulligan - University of Toronto
Jacob Musinsky - Memorial Sloan Kettering Cancer Center
Susan Neuhausen - City of Hope
Heli Nevanlinna - Helsinki University Hospital
Joanne Ngeow - National Cancer Centre Singapore
Huu Phuc Nguyen - University of Tübingen
Dieter Niederacher - Heinrich Heine University Düsseldorf
Henriette Roed Nielsen - Odense University Hospital
Finn Cilius Nielsen - University of Copenhagen
Robert Nussbaum - Cancer Genetics
Kenneth Offit - Memorial Sloan Kettering Cancer Center
Anna Öfverholm - Sahlgrenska University Hospital
Kai-Ren Ong
Ana Osorio - Spanish National Cancer Research Centre
Laura Papi - University of Florence
Janos Papp - National Institute of Oncology
Barbara Pasini - University of Turin
Inge Søkilde Pedersen - Aalborg University Hospital
Ana Peixoto - Instituto Português de Oncologia Francisco Gentil
Nina Peruga - Pomeranian Medical University
Paolo Peterlongo - IFOM
Esther Pohl - University Hospital Cologne
Nisha Pradhan - Memorial Sloan Kettering Cancer Center
Karolina Prajzendanc - Pomeranian Medical University
Fabienne Prieur - Hôpital Nord
Pascal Pujol - Hôpital Arnaud de Villeneuve
Paolo Radice - Fondazione IRCCS Istituto Nazionale dei Tumori
Susan Ramus - UNSW Sydney
Johanna Rantala - Karolinska University Hospital
Muhammad Usman Rashid - German Cancer Research Center
Kerstin Rhiem - University Hospital Cologne
Mark Robson - Memorial Sloan Kettering Cancer Center
Gustavo Rodriguez - NorthShore University HealthSystem
Mark Rogers - University Hospital of Wales
Vilius Rudaitis - Vilnius University
Ane Schmidt - University of Copenhagen
Rita Katharina Schmutzler - University Hospital Cologne
Leigha Senter - The Ohio State University
Payal Shah - University of Pennsylvania
Priyanka Sharma - University of Kansas Medical Center
Lucy Side - University College London
Jacques Simard - Centre hospitalier universitaire de Québec
Christian Singer - Medical University of Vienna
Anne-Bine Skytte
Thomas Slavin - City of Hope
Katie Snape - St George's, University of London
Hagay Sobol - Institut Paoli-Calmettes
Melissa Southey - Institut Paoli-Calmettes
Linda Steele - Beckman Research Institute
Doris Steinemann - Medizinische Hochschule Hannover
Grzegorz Sukiennicki - Pomeranian Medical University
Christian Sutter - Heidelberg University
Csilla Szabo - National Human Genome Research Institute
Yen Tan - Comprehensive Cancer Center Vienna
Manuel R Teixeira - Instituto Português de Oncologia Francisco Gentil
Mary Beth Terry - Columbia University
Alex Teulé - Institut d'Investigació Biomédica de Bellvitge
Abigail Thomas - Mayo Clinic in Florida
Darcy Thull - University of Pittsburgh
Marc Tischkowitz - McGill University
Silvia Tognazzo - Istituto Oncologico Veneto
Amanda Ewart Toland - The Ohio State University
Sabine Topka - Memorial Sloan Kettering Cancer Center
Alison Trainer - The Royal Melbourne Hospital
Nadine Tung - Beth Israel Deaconess Medical Center
Christi van Asperen - Leiden University Medical Center
Annemieke van Der Hout - University Medical Center Groningen
Lizet van Der Kolk - The Netherlands Cancer Institute
Rob van Der Luijt - University Medical Center Utrecht
Mattias van Heetvelde - Ghent University
Liliana Varesco - Istituti di Ricovero e Cura a Carattere Scientifico
Raymonda Varon-Mateeva
Ana Vega - Fundación Pública Galega de Medicina Xenómica
Cynthia Villarreal-Garza - Instituto Nacional de Cancerología
Anna von Wachenfeldt - Karolinska University Hospital
Lisa Walker - Churchill Hospital
Shan Wang-Gohrke - University Hospital Ulm
Barbara Wappenschmidt - University Hospital Cologne
Bernhard Weber
Drakoulis Yannoukakos - National Centre of Scientific Research "Demokritos"
Sook-Yee Yoon - Subang Jaya Medical Centre
Cristina Zanzottera - Fondazione IRCCS Istituto Nazionale dei Tumori
Jamal Zidan - Rebecca Sieff Hospital
Kristin Zorn - University of Pittsburgh
Christina Hutten Selkirk
Peter Hulick - NorthShore University HealthSystem
Georgia Chenevix-Trench - QIMR Berghofer Medical Research Institute
Amanda Spurdle - QIMR Berghofer Medical Research Institute
Antonis C. Antoniou - University of Cambridge
Katherine Nathanson - University of Pennsylvania
Publication Details: Human Mutation, Vol.39(5), pp.593-620
Identifiers: 9937751609311
Academic Unit: Maladies Infectieuses et Vecteurs : Ecologie, Génétique, Evolution et Contrôle - MIVEGEC
Language: English
Resource Type: Journal article
Local Fields: hal-02351570