Professor and Chair
Division of Experimental Pathology
Department of Laboratory Medicine and Pathology
Over 15% of women and men who develop breast cancer have one or more close relatives who have also had the disease, suggesting that these families have inherited mutations in high-risk breast cancer susceptibility genes. Individuals who inherit mutations in the BRCA1 breast cancer gene have on average a 65% chance of developing breast cancer and a 30% chance of ovarian cancer in their lifetime. However, there are great differences in the risks of cancer among BRCA1 mutation carriers. With BCRF support, Dr. Couch’s team has identified other inherited genetic alterations that modify the cancer risk among BRCA1 mutation carriers, resulting in adjustments to risk from as low as 30% to as high as 90%. Using similar methods they have also identified several inherited genetic alterations that increase the risk of triple negative breast cancer and are working to identify other genes that cause breast cancer in families. Collectively, these studies will help to identify people at increased risk of breast cancer due to inherited mutations who may derive benefit from improved management of their risk of breast cancer.
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.