Germline RECQL mutations are associated with breast cancer susceptibility View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2015-06

AUTHORS

Cezary Cybulski, Jian Carrot-Zhang, Wojciech Kluźniak, Barbara Rivera, Aniruddh Kashyap, Dominika Wokołorczyk, Sylvie Giroux, Javad Nadaf, Nancy Hamel, Shiyu Zhang, Tomasz Huzarski, Jacek Gronwald, Tomasz Byrski, Marek Szwiec, Anna Jakubowska, Helena Rudnicka, Marcin Lener, Bartłomiej Masojć, Patrica N Tonin, Francois Rousseau, Bohdan Górski, Tadeusz Dębniak, Jacek Majewski, Jan Lubiński, William D Foulkes, Steven A Narod, Mohammad R Akbari

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. More... »

PAGES

643-646

References to SciGraph publications

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  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1038/ng.3284

    DOI

    http://dx.doi.org/10.1038/ng.3284

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1050260683

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/25915596


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