Article
Landscape of somatic genetic alterations and PAM50 intrinsic subtypes in breast cancer associated with germline pathogenic variants in DNA-repair genes.
Journal of the National Cancer Institute - 1 Aug 2026
Yadav Siddhartha, Reid Sonya, Yilma Binyam, Fragkogianni Stamatina, Whisenant Jennifer G, Weidner Anne, Rajagopal Padma Sheila, Huang Minxuan, Mauer Elizabeth, Arafa Ali T, Chao Calvin, Teslow Emily A, Antonarakis Emmanuel S, Kurian Allison, Couch Fergus J, Pal Tuya
Abstract excerpt
BACKGROUND: The association of germline pathogenic and likely pathogenic variants (GPVs) in hereditary breast cancer genes with underlying tumor biology and clinical outcomes remains incompletely understood. This study characterized differences in somatic alterations and intrinsic subtypes between sporadic and hereditary breast cancers associated with GPVs in ATM, BRCA1, BRCA2, CHEK2, or PALB2. METHODS: This...
Topics
- Humans
- Female
- Breast Neoplasms
- Germ-Line Mutation
- Checkpoint Kinase 2
- Retrospective Studies
- Middle Aged
- Fanconi Anemia Complementation Group N Protein
- Ataxia Telangiectasia Mutated Proteins