Clinical Implementation of a Polygenic Risk Score (PRS) for Breast Cancer

Clinical Implementation of a Polygenic Risk Score (PRS) for Breast Cancer: Impact on Risk Estimates, Management Recommendations, Clinical Outcomes, and Patient Perception

This study aims to assess how a polygenic risk score (PRS) reported with the results of multi-gene panel testing affects the breast cancer risk management recommendations healthcare providers make to their patients. The PRS is a score based on small genetic changes, clinical history, and family history. The PRS is used to estimate remaining lifetime risk of developing breast cancer for patients with no personal history of breast cancer and an overall negative result from MGPT.

Inclusion Criteria:

• Female, age ≥ 18 years
• Willing and able to provide meaningful informed consent
• Willing and able to complete study procedures as described in this protocol
• Electing to undergo multi-gene panel testing for hereditary breast cancer for clinical purposes at the time of consent
• No personal history of cancer (except non-melanoma skin cancer) and meets NCCN guidelines for BRCA1/2 testing based on family history of breast and/or ovarian cancer
• Meets Ambry criteria for clinical reporting of PRS score

Exclusion Criteria:

• Prior germline BRCA1/2 testing
• Not willing to receive PRS
• Personal history of cancer, except non-melanoma skin cancer
• Personal history of allogenic bone marrow/stem cell transplant