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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2012
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3459953/
https://www.ncbi.nlm.nih.gov/pubmed/23028338
http://dx.doi.org/10.1371/journal.pgen.1002894

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