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

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

Abstract 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...

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Bibliographic Details
Main Authors: Isabelle Cusin, Daniel Teixeira, Monique Zahn-Zabal, Valentine Rech de Laval, Anne Gleizes, Valeria Viassolo, Pierre O. Chappuis, Pierre Hutter, Amos Bairoch, Pascale Gaudet
Format: Article
Language:English
Published: BMC 2018-07-01
Series:Human Genomics
Subjects:
BRCA1
Genetic variants
Molecular phenotypes
Functional defect assessment
Biological database
Cancer
Online Access:http://link.springer.com/article/10.1186/s40246-018-0168-0

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