| Literature DB >> 25915596 |
Cezary Cybulski1, Jian Carrot-Zhang2, Wojciech Kluźniak1, Barbara Rivera3, Aniruddh Kashyap1, Dominika Wokołorczyk1, Sylvie Giroux4, Javad Nadaf5, Nancy Hamel6, Shiyu Zhang7, Tomasz Huzarski1, Jacek Gronwald1, Tomasz Byrski1, Marek Szwiec8, Anna Jakubowska1, Helena Rudnicka1, Marcin Lener1, Bartłomiej Masojć1, Patrica N Tonin6, Francois Rousseau9, Bohdan Górski1, Tadeusz Dębniak1, Jacek Majewski2, Jan Lubiński1, William D Foulkes10, Steven A Narod11, Mohammad R Akbari11.
Abstract
Several moderate- and high-risk breast cancer susceptibility genes have been discovered, but more are likely to exist. To discover new breast cancer susceptibility genes, we used 2 populations (from Poland and Quebec, Canada) and applied whole-exome sequencing in a discovery phase (n = 195), followed by validation. We identified rare recurrent RECQL mutations in each population. In Quebec, 7 of 1,013 higher-risk breast cancer cases and 1 of 7,136 newborns carried the c.634C>T (p.Arg215*) variant (P = 0.00004). In Poland, 30 of 13,136 unselected breast cancer cases and 2 of 4,702 controls carried the c.1667_1667+3delAGTA (p.K555delinsMYKLIHYSFR) variant (P = 0.008). RECQL is implicated in resolving stalled DNA replication forks to prevent double-stranded DNA (dsDNA) breaks. This function is related to that of other known breast cancer susceptibility genes, many of which are involved in repairing dsDNA breaks. We conclude that RECQL is a breast cancer susceptibility gene.Entities:
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Year: 2015 PMID： 25915596 DOI： 10.1038/ng.3284
Source DB: PubMed Journal: Nat Genet ISSN： 1061-4036 Impact factor: 38.330