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BCRF Grantee Since


Fergus J. Couch, PhD

Professor and Chair
Division of Experimental Pathology
Department of Laboratory Medicine and Pathology
Mayo Clinic
Rochester, Minnesota

Current Research

Dr. Couch’s recent studies have successfully identified several genetic risk factors for both breast and ovarian cancer in BRCA1 mutation carriers and in women with triple negative breast cancer. Risk models for use in clinics are now being developed using these risk factors. A new and more extensive study that will evaluate 600,000 alterations from across the human genome as genetic risk factors for BRCA1 and triple negative breast cancer has been initiated. This “OncoChip” is expected to lead to identification of many additional risk factors for breast cancer in these populations and to develop better methods for predicting risk of breast cancer in individuals carrying BRCA1 mutations and of triple negative breast cancer in the general population. In parallel, Dr. Couch’s team will continue searching for new high and moderate risk breast cancer predisposition genes using high-throughput genomic sequencing of high-risk breast cancer families. New genes found through this effort will allow improved risk prediction, prevention and possibly better therapy for families with mutations.

Mid-Year Summary

Dr. Couch’s team, with BCRF support and the involvement of over 15,000 people with inherited BRCA1 mutations, has identified several genetic risk factors for breast and ovarian cancer, allowing for improved assessment of cancer risk for those with BRCA1 mutations. An extended study involving 20,000 BRCA1 mutation carriers is now underway in collaboration with the National Institutes of Health and is expected to identify several additional risk factors which will allow personalization of cancer risk among BRCA1 mutation carriers so that those at particularly high risk of cancer can act quickly to reduce their risk while those at much lower than expected risk can change their approach to the management of their risk. Separately the Couch team is collaborating with other BCRF investigators in an effort to identify new high-risk breast cancer genes. Many good possibilities have been selected and follow-up studies are underway to confirm those that substantially increase risk of breast cancer.


Dr. Fergus J. Couch is Professor and Chair of the Division of Experimental Pathology in the Department of Laboratory Medicine and Pathology at the Mayo Clinic. He obtained his undergraduate and doctoral degrees from University College Cork, Ireland and received post-doctoral training at the University of Michigan under the mentorship of Dr. Francis S. Collins, the current director of the National Institutes of Health, and Dr. Barbara L. Weber at the University of Pennsylvania.

Dr. Couch has an extensive background in the genetics of breast cancer following his involvement in the initial characterization of the BRCA1 and BRCA2 genes as a post-doctoral fellow. Dr. Couch is taking a multidisciplinary approach to characterization of genetic factors associated with breast cancer risk. Much of his work involves identification and characterization of common genetic modifiers of breast cancer risk in BRCA1 and BRCA2 mutation carriers in collaboration with members of the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). He also has developed a triple negative breast cancer consortium (TNBCC) to study genetic risk factors for triple negative breast cancer and contributes to efforts by the Breast Cancer Association Consortium (BCAC) to identify common genetic risk factors for breast cancer in the general population. In addition, he co-leads the Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA), an international consortium that is using laboratory and epidemiological approaches to determine which variants of uncertain significance in BRCA1 and BRCA2 predispose to cancer. More recently, Dr. Couch has been working to identify new high-risk breast cancer susceptibility genes through family-based genome sequencing studies and is actively collaborating with other investigators in the COMPLEXO (complexity of the exome) consortium for this purpose. Overall, Dr. Couch works to identify and understand risk factors for breast cancer in order to enhance prevention and therapeutic strategies and improve risk assessment for breast cancer for all women.