The Risk of Breast Cancer According to Mutation Type and Position in Carriers of a Pathogenic Variant in <i>BRCA1</i>.

ABSTRACT:

Background

Carriers of a pathogenic variant (PV) in BRCA1 face a high risk of breast cancer. This study estimated the risk of developing breast cancer according to mutation type and location.

Methods

BRCA1 carriers with no personal history of breast cancer or bilateral mastectomy were included. Detailed information on clinical and family history was collected by questionnaire. Survival analysis was used to estimate 15-year cumulative risk according to PV type and location.

Results

A total of 3677 BRCA1 carriers were followed for a mean of 7.2 years (range 0.1-15.0 years); 481 incident breast cancers were documented. Overall, the 15-year cumulative incidence was 25%. Risk estimates varied by exon, ranging from 9% (exon 21) to 19% (exon 12) to 36% (

SUBMITTER: Kotsopoulos J 

PROVIDER: S-EPMC12731516 | biostudies-literature | 2025 Dec

REPOSITORIES: biostudies-literature