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


Full Title

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


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.

Who Can Join

This study is for women age 25 and older who have BRCA1/2 mutations and have not been diagnosed with breast cancer nor had a prophylactic mastectomy. Participants must be able to speak and understand English to complete the questionnaires.

For more information about this study, please email Dr. Jada Hamilton at [email protected].



Disease Status

Newly Diagnosed & Relapsed/Refractory