A new bioinformatics tool to help assess the significance of BRCA1 variants

BACKGROUND: Germline pathogenic variants in the breast cancer type 1 susceptibility gene BRCA1 are associated with a 60% lifetime risk for breast and ovarian cancer. This overall risk estimate is for all BRCA1 variants; obviously, not all variants confer the same risk of developing a disease. In can...

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Detalhes bibliográficos
Publicado no:Hum Genomics
Main Authors: Cusin, Isabelle, Teixeira, Daniel, Zahn-Zabal, Monique, Rech de Laval, Valentine, Gleizes, Anne, Viassolo, Valeria, Chappuis, Pierre O., Hutter, Pierre, Bairoch, Amos, Gaudet, Pascale
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2018
Assuntos:
Genome Database
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6042458/
https://ncbi.nlm.nih.gov/pubmed/29996917
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s40246-018-0168-0
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