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Article

Damaging missense variants in innate immunity genes are associated with earlier age of breast cancer onset in BRCA1 185delAG carriers.

Journal of medical genetics - 25 Jun 2026

Shemesh Sapir, Bernstein-Molho Rinat, Shoval Shelley, Laitman Yael, Madorsky-Feldman Dana, Friedman Eitan, Elkon Ran

Abstract excerpt

BACKGROUND: Penetrance of breast cancer (BC) among women who carry pathogenic variants (PVs) in BRCA1 is incomplete, and the age at BC diagnosis varies considerably, even among carriers of the same PV, suggesting the involvement of genetic and non-genetic risk modifying factors. Polygenic Risk Score (PRS) models based on common sequence variants account for less than 10% of the total risk variability among BRCA1...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 41916723
DOI: 10.1136/jmg-2025-111394

Genes

BRCA1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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