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Fergus J. Couch, PhD
Professor and Chair
Division of Experimental Pathology
Department of Laboratory Medicine and Pathology
Seeking to improve risk prediction in women from high-risk breast cancer families or women who have inherited mutations in breast cancer genes.
Studies are ongoing to improve risk assessment for women of all ages, identify other high risk genetic variants, and new breast cancer genes.
These studies will improve risk assessment in high risk families and spur new preventive intervention strategies.
Over 15 percent of women and men who develop breast cancer have one or more close relatives who also have had the disease, suggesting that these families have inherited mutations in high-risk breast cancer susceptibility genes. However, many of these genes have not yet been identified.
Dr. Couch's team has made significant advances in our understanding of cancer risks from inherited mutations. They have now provided estimates of cancer risks for identified mutations so that individuals can make more informed decisions about their clinical management.
Ongoing efforts include: 1) studies to understand the risk associated with known predisposition genes to provide more accurate risk prediction for women of all ages; 2) studies of variants of uncertain significance in a potential breast cancer risk gene called RAD51D; 3) studies to identify new breast cancer suceptibility genes that could offer new options for the care and management of those women with inherited mutations in the genes.
Fergus Couch is Professor and Chair of the Division of Experimental Pathology and Laboratory Medicine at the Mayo Clinic, with joint appointments in the Departments of Health Sciences Research and Biochemistry and Molecular Biology. Dr. Couch works on the genetics of breast cancer, with over 300 publications relating to the discovery and clinical characterization of inherited genetic variants in cancer susceptibility genes. He is the principal investigator of the Mayo Clinic Breast Cancer Registry and is a founder and a member of the coordinating committee of CIMBA (the consortium of investigators of modifiers of BRCA1/2) focused on identifying genetic modifiers of breast cancer risk in the BRCA1 carrier population. Similarly, he is the principal investigator of the Triple Negative Breast Cancer Consortium (TNBCC), aimed at understanding the genetic etiology of triple negative breast cancer, and is a long-term contributor to the international Breast Cancer Association Consortium (BCAC). Dr. Couch is a co-founder of the Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) consortium focused on establishing the clinical relevance of variants of uncertain significance (VUS) in BRCA1/2. Within ENIGMA he is coordinating efforts to characterize the risk and penetrance of deleterious mutations and VUS in non-BRCA1/2 predisposition genes. He has also collaborated with investigators from Memorial Sloan Kettering Cancer Center and the University of Pennsylvania to develop the Prospective Registry Of Multi-Plex Testing (PROMPT) for patients with mutations in predisposition genes. Dr. Couch is a founding member and participant in COMPLEXO, a consortium aiming to identify additional breast cancer predisposition genes.