Incorporating truncating variants in PALB2, CHEK2, and ATM into the BOADICEA breast cancer risk model.

ABSTRACT:

Purpose

The proliferation of gene panel testing precipitates the need for a breast cancer (BC) risk model that incorporates the effects of mutations in several genes and family history (FH). We extended the BOADICEA model to incorporate the effects of truncating variants in PALB2, CHEK2, and ATM.

Methods

The BC incidence was modeled via the explicit effects of truncating variants in BRCA1/2, PALB2, CHEK2, and ATM and other unobserved genetic effects using segregation analysis methods.

Results

The predicted average BC risk by age 80 for an ATM mutation carrier is 28%, 30% for CHEK2, 50% for PALB2, and 74% for BRCA1 and BRCA2. However, the BC risks are predicted to increase with FH burden. In families with mutations, predicted risks for mutation-negative members depend

SUBMITTER: Lee AJ 

PROVIDER: S-EPMC5086091 | biostudies-literature | 2016 Dec

REPOSITORIES: biostudies-literature