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Article

Single-cell analysis of somatic mutation burden in mammary epithelial cells of pathogenic BRCA1/2 mutation carriers.

The Journal of clinical investigation - 1 Mar 2022

Sun Shixiang, Brazhnik Kristina, Lee Moonsook, Maslov Alexander Y, Zhang Yi, Huang Zhenqiu, Klugman Susan, Park Ben H, Vijg Jan, Montagna Cristina

Abstract excerpt

Inherited germline mutations in the breast cancer gene 1 (BRCA1) or BRCA2 genes (herein BRCA1/2) greatly increase the risk of breast and ovarian cancer, presumably by elevating somatic mutational errors as a consequence of deficient DNA repair. However, this has never been directly demonstrated by a comprehensive analysis of the somatic mutational landscape of primary, noncancer, mammary epithelial cells of women...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 35025760
DOI: 10.1172/JCI148113
PMCID: PMC8884908

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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