Mutational landscape of normal breast tissues adjacent to invasive breast cancer.

ABSTRACT: Individuals with a history of breast cancer are at increased risk of developing a new breast cancer during their lifetime. Rare but high-impact somatic mutations in normal breast tissues may contribute to malignant transformation. We analyze mutations in cancer-relevant pathways across matched samples of peripheral blood, cancer-adjacent normal breast, and breast cancer from patients diagnosed before 50 years of age who carry no germline mutations in cancer-predisposing genes. Gene- and pathway-level mutation profiles and single-base substitution (SBS) signatures are compared between tissue types in two independent cohorts (Yale, n = 24; TCGA, n = 17). Cancer-adjacent normal breast tissue contains multiple acquired somatic mutations that persist in tumors. Most variants are shared across t

SUBMITTER: Suwalska A 

PROVIDER: S-EPMC12866091 | biostudies-literature | 2026 Jan

REPOSITORIES: biostudies-literature