Responses to Testing for Genetic Risk Modifiers Among Women with BRCA1/2 Mutations

Full Title

Responses to Genetic Risk Modifier Testing Among Women with Pathogenic Variants in Breast Cancer Predisposition Genes

Purpose

Women with a mutation in the BRCA1 or BRCA2 genes are at increased risk for hereditary breast and ovarian cancer. However, the cancer risk estimates for these gene mutations are currently wide-ranging and non-specific. A new form of genetic testing, called “genetic risk modifier testing,” may give women with BRCA1/2 gene mutations more specific estimates of their risk of developing breast cancer.

Genetic risk modifier testing is a new form of genetic testing that is not a routine part of clinical care. The purpose of this study is to describe how women with BRCA1/2 mutations react to genetic risk modifier testing and to examine how they make decisions about their health care. Participants will provide a saliva sample for genetic risk modifier testing, receive an updated cancer risk assessment, and complete three questionnaires.