Combining rare and common genetic variants improves population risk stratification for breast cancer.

ABSTRACT:

Purpose

This study aimed to evaluate the performance of different genetic screening approaches to identify women at high risk of breast cancer in the general population.

Methods

We retrospectively studied 25,591 women with available electronic health records and genetic data, participants in the Healthy Nevada Project.

Results

Family history of breast cancer was ascertained on or after the record of breast cancer for 78% of women with both, indicating that this risk assessment method is not being properly utilized for early screening. Genetics offered an alternative method for risk assessment. 11.4% of women were identified as high risk based on possessing a predicted loss-of-function (pLOF) variant in BRCA1, BRCA2, or PALB2 (hazard ratio = 10.4,

SUBMITTER: Bolze A 

PROVIDER: S-EPMC11613897 | biostudies-literature | 2024

REPOSITORIES: biostudies-literature