A new study among nearly 5,000 women with breast cancer, which included data from ICARE participants, compared sporadic cases to those with germline pathogenic or likely pathogenic variants in BRCA1, BRCA2, PALB2, ATM, and CHEK2. We studied these tumors because we hypothesized that breast cancers from BRCA1, BRCA2, PALB2, ATM, and CHEK2 carriers form by distinct pathways, and better understanding these pathways could be important in predicting outcomes and drug responses.
What was found?
- BRCA1 HR+/HER2- breast cancers were significantly enriched for basal subtype, while CHEK2 cases had a higher prevalence of luminal A subtype
- Among HR+/HER2- breast cancers, BRCA1 cases were enriched for TP53 alterations, ATM cases with FGFR1 alterations, and BRCA2 cases with APC alterations
- Among HR+/HER2- breast cancers, BRCA2 cases were inversely associated with PIK3CA alterations and CHEK2 cases with TP53 alterations
Why is this important?
These findings may improve risk stratification and guide personalized treatment strategies.
Learn more at: https://pubmed.ncbi.nlm.nih.gov/41832987/
Reference: Yadav et al. J Natl Cancer Inst. 2026:djag070. Online ahead of print. PMID: 41832987.
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