Germline RECQL mutations are associated with breast cancer susceptibility.

doi:10.1038/ng.3284

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Article

Germline RECQL mutations are associated with breast cancer susceptibility.

Nature genetics - 1 Jun 2015

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

Abstract excerpt

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...

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Identifiers

PMID: 25915596
DOI: 10.1038/ng.3284

Genes

RECQL

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