Landscape of somatic genetic alterations and PAM50 intrinsic subtypes in breast cancer associated with germline pathogenic variants in DNA-repair genes - PubMed
5 hours ago
- #breast cancer
- #precision medicine
- #genetic variants
- Study examines somatic genetic alterations and PAM50 intrinsic subtypes in breast cancer linked to germline pathogenic variants (GPVs) in DNA-repair genes.
- Compared sporadic and hereditary breast cancers with GPVs in ATM, BRCA1, BRCA2, CHEK2, or PALB2.
- BRCA1 GPVs in HR+/HER2- tumors showed higher basal subtype prevalence (45.5% vs 11.4%, p < 0.001).
- CHEK2 carriers had more luminal A subtype cases (80.4% vs 60.3%, p = 0.006).
- BRCA1 GPVs were enriched for TP53 alterations, ATM GPVs for FGFR1, and BRCA2 GPVs for APC alterations.
- BRCA2 GPVs inversely associated with PIK3CA alterations, CHEK2 GPVs with TP53 alterations.
- Findings suggest GPVs influence intrinsic subtypes and somatic alterations, aiding precision medicine strategies.