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Article

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

Human genomics - 11 Jul 2018

Cusin Isabelle, Teixeira Daniel, Zahn-Zabal Monique, Rech de Laval Valentine, Gleizes Anne, Viassolo Valeria, Chappuis Pierre O, Hutter Pierre, Bairoch Amos, Gaudet Pascale

Abstract excerpt

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 cancer patients, loss of BRCA1 function in tumor tissue has been associated with an increased sensitivity to platinum...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 29996917
DOI: 10.1186/s40246-018-0168-0
PMCID: PMC6042458

Genes

BRCA1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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