Study of Responses to Genetic Risk Modifier Testing in Women with BRCA1, BRCA2, and Other Breast Cancer Risk Gene Mutations

What this Trial Is About

Researchers are studying how women with pathogenic variants in breast cancer predisposition genes such as BRCA1, BRCA2, ATM, CHEK2, and PALB2 respond to genetic risk modifier testing. The study aims to understand how these women make healthcare decisions based on their genetic test results. It focuses on women aged 25 years or older who have no personal history of breast cancer and are English-fluent. Participants will provide saliva and buccal swab samples for genetic risk modifier testing and complete a series of questionnaires at specific time points. The study includes an initial assessment at enrollment, a follow-up assessment about one week later, and a final assessment six months after receiving their test results. Participants are encouraged to complete these questionnaires electronically through a secure system. During the study, participants will be contacted to complete questionnaires that explore their reactions and decision-making processes after genetic testing. Researchers will monitor choices such as opting for preventive mastectomy or pursuing surveillance over a three-year period. Data collection is through questionnaires and genetic samples, with the total participation time spanning several months with scheduled assessments.

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