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Article

Understanding and predicting the functional consequences of missense mutations in BRCA1 and BRCA2.

Scientific reports - 21 Jun 2022

Aljarf Raghad, Shen Mengyuan, Pires Douglas E V, Ascher David B

Abstract excerpt

BRCA1 and BRCA2 are tumour suppressor genes that play a critical role in maintaining genomic stability via the DNA repair mechanism. DNA repair defects caused by BRCA1 and BRCA2 missense variants increase the risk of developing breast and ovarian cancers. Accurate identification of these variants becomes clinically relevant, as means to guide personalized patient management and early detection. Next-generation...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Genetic Predisposition to Disease

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Source

Open in PubMed Open full text

Identifiers

PMID: 35729312
DOI: 10.1038/s41598-022-13508-3
PMCID: PMC9213547

Genes

BRCA1
BRCA2
MCC

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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