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

BACKGROUND: PV carriers, indicating that further genetic modifiers remain to be identified. METHODS: 185delAG founder PV. RESULTS: ). CONCLUSION: penetrance and support the development of more refined, personalised risk prediction models.

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Publication Details

Journal
Journal of Medical Genetics
Published
2026-03-31
DOI
https://doi.org/10.1136/jmg-2025-111394
Primary Topic
BRCA gene mutations in cancer
Type
article
Field-Weighted Citation Impact
0.00

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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

E. Friedman, Dana Madorsky-Feldman, Ran Elkon, Sapir Shemesh et al.
Journal of Medical Genetics
BRCA gene mutations in cancer
article

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

E. Friedman, Dana Madorsky-Feldman, Ran Elkon, Sapir Shemesh, Rinat Bernstein-Molho, Yael Laitman, Shelley Shoval
article en

Abstract

BACKGROUND: PV carriers, indicating that further genetic modifiers remain to be identified. METHODS: 185delAG founder PV. RESULTS: ). CONCLUSION: penetrance and support the development of more refined, personalised risk prediction models.

Journal of Medical Genetics
Tel Aviv University (IL), Sheba Medical Center (IL)
Israel Cancer Research Fund, Tel Aviv University
Openalex Percentile: Top 27%
BRCA gene mutations in cancer
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