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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Detalhes bibliográficos
Main Authors: Thompson, Ella R., Doyle, Maria A., Ryland, Georgina L., Rowley, Simone M., Choong, David Y. H., Tothill, Richard W., Thorne, Heather, Barnes, Daniel R., Li, Jason, Ellul, Jason, Philip, Gayle K., Antill, Yoland C., James, Paul A., Trainer, Alison H., Mitchell, Gillian, Campbell, Ian G.
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2012
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3459953/
https://ncbi.nlm.nih.gov/pubmed/23028338
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pgen.1002894
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