ProF-SC: Prospective Family Study Cohort
Advances over the past two decades have led to the emergence of new prospects for personalized medicine and cancer prevention. The discovery of the BRCA1 and BRCA2 gene mutations has resulted in more appropriate targeting of preventive and screening strategies even within families previously assumed to be similar with respect to breast cancer risk. Mutation testing in other genes may be used in clinical practice in years to come.
Despite these advances in genomic medicine, there remain some fundamental questions critical to clinical care that are unanswered for women with a family history, both those with an identified genetic mutation as well as the majority of women with a family history of breast cancer who do not carry a mutation in any of the currently identified major susceptibility genes.
Between 2011-2016, the National Cancer Institute provided new funding for the six sites of Breast Cancer Family Registry (BCFR) to address some of the unanswered questions regarding the prediction of breast cancer risk in women with a family history of breast cancer by following the BCFR families for another five years. Across the BCFR and in collaboration with the Kathleen Cuningham Foundation Consortium for research into Familial Breast cancer (kConFab), we collected updates from unaffected women and women already affected with breast cancer through a brief follow-up questionnaire.
The information we collected during the ProF-SC follow-up will help us understand:
1) an individual’s absolute risk of breast cancer given their age, family history, reproductive history and mutation status
2) what modifiable factors may lower one’s risk of breast in the context of having a family history
3) how women with a personal history of breast cancer can lower their risk of a new cancer
4) how clinical prediction models currently being used in clinics can be improved
With this information, we will be able to improve our ability to predict breast cancer in women who are currently unaffected, as well as in women who have already been affected with breast cancer. This information will be vital for many women and their families for years to come.