Penetrance of Breast Cancer Susceptibility Genes From the eMERGE III Network.

ABSTRACT:

Background

Unbiased estimates of penetrance are challenging but critically important to make informed choices about strategies for risk management through increased surveillance and risk-reducing interventions.

Methods

We studied the penetrance and clinical outcomes of 7 breast cancer susceptibility genes (BRCA1, BRCA2, TP53, CHEK2, ATM, PALB2, and PTEN) in almost 13 458 participants unselected for personal or family history of breast cancer. We identified 242 female participants with pathogenic or likely pathogenic variants in 1 of the 7 genes for penetrance analyses, and 147 women did not previously know their genetic results.

Results

Out of the 147 women, 32 women were diagnosed with breast cancer at an average age o

SUBMITTER: Fan X 

PROVIDER: S-EPMC8346699 | biostudies-literature | 2021 Aug

REPOSITORIES: biostudies-literature