Inheritance of deleterious mutations at both BRCA1 and BRCA2 in an international sample of 32,295 women.
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ABSTRACT:
SUBMITTER: Rebbeck TR
PROVIDER: S-EPMC5106833 | biostudies-literature | 2016 Nov
REPOSITORIES: biostudies-literature
Publications
Inheritance of deleterious mutations at both BRCA1 and BRCA2 in an international sample of 32,295 women.
Rebbeck Timothy R TR Friebel Tara M TM Mitra Nandita N Wan Fei F Chen Stephanie S Andrulis Irene L IL Apostolou Paraskevi P Arnold Norbert N Arun Banu K BK Barrowdale Daniel D Benitez Javier J Berger Raanan R Berthet Pascaline P Borg Ake A Buys Saundra S SS Caldes Trinidad T Carter Jonathan J Chiquette Jocelyne J Claes Kathleen B M KB Couch Fergus J FJ Cybulski Cezary C Daly Mary B MB de la Hoya Miguel M Diez Orland O Domchek Susan M SM Nathanson Katherine L KL Durda Katarzyna K Ellis Steve S Evans D Gareth DG Foretova Lenka L Friedman Eitan E Frost Debra D Ganz Patricia A PA Garber Judy J Glendon Gord G Godwin Andrew K AK Greene Mark H MH Gronwald Jacek J Hahnen Eric E Hallberg Emily E Hamann Ute U Hansen Thomas V O TV Imyanitov Evgeny N EN Isaacs Claudine C Jakubowska Anna A Janavicius Ramunas R Jaworska-Bieniek Katarzyna K John Esther M EM Karlan Beth Y BY Kaufman Bella B Investigators KConFab K Kwong Ava A Laitman Yael Y Lasset Christine C Lazaro Conxi C Lester Jenny J Loman Niklas N Lubinski Jan J Manoukian Siranoush S Mitchell Gillian G Montagna Marco M Neuhausen Susan L SL Nevanlinna Heli H Niederacher Dieter D Nussbaum Robert L RL Offit Kenneth K Olah Edith E Olopade Olufunmilayo I OI Park Sue Kyung SK Piedmonte Marion M Radice Paolo P Rappaport-Fuerhauser Christine C Rookus Matti A MA Seynaeve Caroline C Simard Jacques J Singer Christian F CF Soucy Penny P Southey Melissa M Stoppa-Lyonnet Dominique D Sukiennicki Grzegorz G Szabo Csilla I CI Tancredi Mariella M Teixeira Manuel R MR Teo Soo-Hwang SH Terry Mary Beth MB Thomassen Mads M Tihomirova Laima L Tischkowitz Marc M Toland Amanda Ewart AE Toloczko-Grabarek Aleksandra A Tung Nadine N van Rensburg Elizabeth J EJ Villano Danylo D Wang-Gohrke Shan S Wappenschmidt Barbara B Weitzel Jeffrey N JN Zidan Jamal J Zorn Kristin K KK McGuffog Lesley L Easton Douglas D Chenevix-Trench Georgia G Antoniou Antonis C AC Ramus Susan J SJ
Breast cancer research : BCR 20161111 1
<h4>Background</h4>Most BRCA1 or BRCA2 mutation carriers have inherited a single (heterozygous) mutation. Transheterozygotes (TH) who have inherited deleterious mutations in both BRCA1 and BRCA2 are rare, and the consequences of transheterozygosity are poorly understood.<h4>Methods</h4>From 32,295 female BRCA1/2 mutation carriers, we identified 93 TH (0.3 %). "Cases" were defined as TH, and "controls" were single mutations at BRCA1 (SH1) or BRCA2 (SH2). Matched SH1 "controls" carried a BRCA1 mut ...[more]
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