Association of gene variant type and location with breast cancer risk in the general population.

ABSTRACT:

Background

Pathogenic variants (PVs) in ATM, BRCA1, BRCA2, CHEK2, and PALB2 are associated with increased breast cancer risk. It is unknown, however, whether this risk differs by PV type or location in carriers ascertained from the general population.

Patients and methods

To evaluate breast cancer risks associated with PV type and location in ATM, BRCA1, BRCA2, CHEK2, and PALB2, we carried out age-adjusted case-control association analysis in 32 247 women with and 32 544 age-matched women without breast cancer from the CARRIERS Consortium. PVs were grouped by type and location within genes and assessed for risks of breast cancer [odds ratios (OR), 95% confidence intervals (CI), and P values] using logistic regression.

Results

Compared with women carrying BRCA2 exon 11

SUBMITTER: Akamandisa MP 

PROVIDER: S-EPMC12288856 | biostudies-literature | 2025 Aug

REPOSITORIES: biostudies-literature