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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 high-risk women.
- Studies are ongoing to improve risk assessment for women of all ages, identify other high-risk genetic variants, and new breast cancer risk genes.
- These studies will improve risk assessment in high risk families and spur new preventive intervention strategies.
The most well-known breast cancer risk genes are BRCA1 and BRCA2. Women and men who inherit mutations in either of the BRCA genes have a significant risk of developing breast or other cancers. There are many other genes that also increase the risk of breast cancer, but these are less well known. Dr. Couch is leading efforts to identify other breast cancer risk genes and gene variants called SNPs and characterize the level of risk associate with these genes.
Full Research Summary
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 found during clinical genetic testing. They have developed estimates of cancer risks for identified mutations so that individuals can make more informed decisions about their clinical management. Their goals are two-fold: 1) calculate accurate risks for women of all ages, and 2) Resolve problematic mutations that currently make unclear contributions to cancer.
Over the next year, they will continue their efforts to:
- Develop tests that can provide personal risk estimates for high-risk women;
- Define accurate estimates of breast cancer risk for women who have inherited mutations in moderate risk or high-risk predisposition genes;
- Determine which inherited variants of uncertain significance (VUS) in the RAD51C and RAD51D breast cancer genes increase risk of breast cancer and which are just benign or neutral alterations;
- Identify new breast cancer genes through DNA sequencing of many breast cancer patients.
These studies will provide information that will lead to more informed, accurate, and beneficial care of women with a family history 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.