Date of Award


Document Type

Thesis - Open Access

Degree Name

MS Human Genetics


Human Genetics Graduate Program


ATM, CHEK2, and PALB2 are considered to be moderate-penetrance breast cancer susceptibility genes (MPBCSGs). MPBCSG mutation-carriers are predicted to have a lower risk for breast cancer than carriers of mutations in genes such as BRCA1, BRCA2, and other high-penetrance breast cancer susceptibility genes. Ninety-one practicing genetic counselors were surveyed to investigate genetic counselor utilization of the NCCN guidelines and recommendations for carriers of ATM, PALB2, and CHEK2 based on personal and family history of breast cancer. Although the majority indicated that they would follow the guidelines regardless of personal or family history of breast cancer, some genetic counselor recommendations exceeded NCCN guidelines when there was a personal and/or family history of breast cancer for an individual with a MPBCSG mutation. For counselors that said they would exceed the NCCN guidelines, additional recommendations included consideration of risk-reducing mastectomy, bilateral risk-reducing mastectomy, increased screening for relatives, a referral to a breast surgeon, and use of risk models to clarify breast MRI recommendations. Our study is the first to report trends in the field regarding approaches to providing genetic counseling regarding ATM, CHEK2, and PALB2. The results demonstrate that personal/family history of breast cancer is a significant predictor of genetic counselor recommendation.