CARRIERS and BRIDGES: A Comparison of Big Datasets with Fergus Couch, PhD

The webinar will focus on findings from the CARRIERS and BRIDGES consortia that evaluated the influence of pathogenic variants in cancer predisposition genes on breast cancer risk in the general population that was unselected for young age at diagnosis of cancer or strong family history of cancer. Subset analyses based on clinical histology of tumors, age at diagnosis, and family history will also be reviewed. Comparisons will be made to results for high-risk patients with young age at diagnosis or strong family history that meet NCCN testing guidelines.

Level of Instruction: Advanced

Fergus J. Couch, PhD | Presenter

Professor of Medical Research and Chair of the Division of Experimental Pathology and Laboratory Medicine, Mayo Clinic

Fergus Couch is the Zbigniew and Anna M. Scheller Professor of Medical Research and Chair of the Division of Experimental Pathology and Laboratory Medicine at the Mayo Clinic. Dr. Couch works on the genetics of breast, ovarian and pancreatic cancer, with over 580 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. He is also a long-term contributor to the international Breast Cancer Association Consortium (BCAC) that has identified many of the common genetic risk factors for breast cancer. 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 and other predisposition genes. Using functional studies along with clinical and epidemiological data Dr. Couch has led efforts to determine the risks of breast and other cancers associated with VUS in predisposition genes. He serves as the chairperson of the NIH-sponsored ClinGen Hereditary Breast, Ovarian and Pancreatic (HBOP) cancer variant curation expert panel (VCEP) for classification of the clinical relevance of variants in cancer predisposition genes. Furthermore, Dr. Couch is the founder and leader of the CARRIERS study that is focused on understand risks of breast cancer for the general population.

Caitlin Reid, CGC | Moderator

Genomic Science Liaison I, Ambry Genetics

Caitlin joined Ambry Genetics in 2021 as the Oncology Genomic Science Liaison for the Midwest territory. In her current role, she serves as a clinical liaison for the field team to educate health care providers and key opinion leaders on genetic testing and genomic medicine. Caitlin previously worked as an Oncology Genetic Counselor at the University of Iowa in the Holden Comprehensive Cancer center. Caitlin received her Bachelor of Science degree in Biology with a concentration in cell and developmental biology from the University of Iowa. She earned her Master of Science degree in Genetic Counseling from the University of Michigan in 2018 and is certified by the American Board of Genetic Counseling.