Fergus J. Couch, PhD

On behalf of Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA)
Evidence suggests that 35% of women with BRCA1 mutations will never develop breast cancer but it is currently not possible to predict which BRCA1 mutation carriers are in this category. Dr. Couch and his collaborators propose to validate the results from a genome wide association study of BRCA1 carriers in order to identify the commonly inherited alterations in the human genome that are associated with altered risk of breast cancer in BRCA1 mutation carriers. Once a number of these risk modifiers have been verified, they aim to develop new risk assessment models for BRCA1 carriers that will predict individual risk of breast cancer. The samples needed for the genome wide association study of breast cancer in BRCA1 carriers have been collected. In June, Dr. Couch reported that sample quality is being checked and genotyping will commence shortly.

Mid-year Progress Report:
This project is studying common genetic alterations in the human genome among women with mutations in the BRCA1 breast and ovarian cancer predisposition genes in order to identify the alterations that modify the risk of breast cancer. DNA samples from over 3,000 women have been collected and the samples that will be used in the first stage of the genetic testing of alterations have been selected.

Bio:
Fergus J. Couch is an Associate Professor in the Department of Laboratory Medicine and Pathology in the Mayo Clinic College of Medicine. He obtained his undergraduate and Ph.D degrees from University College Cork, Ireland and received postdoctoral training under the mentorship of Francis S. Collins at the University of Michigan and Barbara L. Weber at the University of Pennsylvania. He is the vice-chair of the Division of Experimental Pathology and the deputy director of the breast cancer research program at the Mayo Clinic.

Dr. Couch has had a long-standing interest in the genetics of breast cancer following his involvement in the initial characterization of the BRCA1 and BRCA2 genes as a postdoctoral fellow. Dr. Couch is taking a multidisciplinary approach to characterization of genetic factors associated with breast cancer. Much of his work is focused on identification of common genetic risk factors for breast cancer and genetic modifiers of breast cancer risk in BRCA1 and BRCA2 mutation carriers. In addition, he leads an international consortium that is using laboratory and epidemiological approaches to determine which unclassified variants in BRCA1 and BRCA2 predispose to cancer. Dr. Couch is also studying how BRCA2 and a number of candidate oncogenes from a region of gene amplification on chromosome 17 contribute to breast cancer using animal models and cell biology approaches. His studies of these genes have led to a specific interest in the contribution of defects in cell division to breast cancer.