Landscape of somatic genetic alterations and PAM50 intrinsic subtypes in breast cancer associated with germline pathogenic variants in DNA-repair genes

GPVs in BRCA1, BRCA2, ATM, CHEK2, and PALB2 are associated with distinct intrinsic breast cancer subtypes and somatic genomic alterations. These findings may enhance precision in risk stratification and guide personalized treatment strategies.

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Publication Details

Journal
JNCI Journal of the National Cancer Institute
Published
2026-03-11
DOI
https://doi.org/10.1093/jnci/djag070
Primary Topic
BRCA gene mutations in cancer
Type
article
Field-Weighted Citation Impact
0.00
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article

Landscape of somatic genetic alterations and PAM50 intrinsic subtypes in breast cancer associated with germline pathogenic variants in DNA-repair genes

Anne Weidner, Binyam Yilma, Padma Sheila Rajagopal, Ali T. Arafa et al.
JNCI Journal of the National Cancer Institute
BRCA gene mutations in cancer
article

Landscape of somatic genetic alterations and PAM50 intrinsic subtypes in breast cancer associated with germline pathogenic variants in DNA-repair genes

Anne Weidner, Binyam Yilma, Padma Sheila Rajagopal, Ali T. Arafa, Emily A. Teslow, Jennifer G. Whisenant, Siddhartha Yadav, Minxuan Huang, Tuya Pal, Stamatina Fragkogianni, Sonya Reid, Elizabeth Mauer, Emmanuel S Antonarakis, Calvin Chao, Allison Kurian, Fergus J Couch
article en

Abstract

GPVs in BRCA1, BRCA2, ATM, CHEK2, and PALB2 are associated with distinct intrinsic breast cancer subtypes and somatic genomic alterations. These findings may enhance precision in risk stratification and guide personalized treatment strategies.

JNCI Journal of the National Cancer Institute
Mayo Clinic (US), Tempus Labs (United States) (US), Mayo Clinic in Arizona (US), University of Minnesota Medical Center (US), National Cancer Institute (US), Mayo Clinic in Florida (US), Vanderbilt University Medical Center (US), Stanford University (US)
Good health and well-being
Openalex Percentile: Top 22%
BRCA gene mutations in cancer
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