Exome sequencing identifies rare deleterious mutations in DNA repair genes FANCC and BLM as potential breast cancer susceptibility alleles.

Exome sequencing identifies rare deleterious mutations in DNA repair genes FANCC and BLM as potential breast cancer susceptibility alleles.

Despite intensive efforts using linkage and candidate gene approaches, the genetic etiology for the majority of families with a multi-generational breast cancer predisposition is unknown. In this study, we used whole-exome sequencing of thirty-three individuals from 15 breast cancer families to iden...

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Bibliographic Details
Main Authors: Ella R Thompson, Maria A Doyle, Georgina L Ryland, Simone M Rowley, David Y H Choong, Richard W Tothill, Heather Thorne, kConFab, Daniel R Barnes, Jason Li, Jason Ellul, Gayle K Philip, Yoland C Antill, Paul A James, Alison H Trainer, Gillian Mitchell, Ian G Campbell
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2012-09-01
Series:PLoS Genetics
Online Access:http://europepmc.org/articles/PMC3459953?pdf=render

Internet

http://europepmc.org/articles/PMC3459953?pdf=render

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