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Article

A Multiplex Homology-Directed DNA Repair Assay Reveals the Impact of More Than 1,000 BRCA1 Missense Substitution Variants on Protein Function.

American journal of human genetics - 4 Oct 2018

Starita Lea M, Islam Muhtadi M, Banerjee Tapahsama, Adamovich Aleksandra I, Gullingsrud Justin, Fields Stanley, Shendure Jay, Parvin Jeffrey D

Abstract excerpt

Loss-of-function pathogenic variants in BRCA1 confer a predisposition to breast and ovarian cancer. Genetic testing for sequence changes in BRCA1 frequently reveals a missense variant for which the impact on cancer risk and on the molecular function of BRCA1 is unknown. Functional BRCA1 is required for the homology-directed repair (HDR) of double-strand DNA breaks, a critical activity for maintaining genome...

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Share to BRCA1 Protein
Share to Cell Line, Tumor

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Breaks, Double-Stranded

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Share to Mutation, Missense

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Source

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Identifiers

PMID: 30219179
DOI: 10.1016/j.ajhg.2018.07.016
PMCID: PMC6174279

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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