PRESENTER PROFILES

Risk Reduction and Early Detection: The Future of Cancer Genetics Is Here

Thursday, December 12
12:30 – 1:45 p.m. CT
Stars at Night Ballroom 3-4

PRESENTER PROFILES

Risk Reduction and Early Detection: The Future of Cancer Genetics Is Here

Thursday, December 12
12:30 – 1:45 p.m. CT
Stars at Night Ballroom 3-4

Presentation: Saturation Genome Editing-Based Functional and Clinical Classification of VUS in BRCA2

Fergus Couch, PhD
Professor of Laboratory Medicine and Pathology,
Mayo Clinic

What is your presentation about?
Individuals found to have germline variants of uncertain significance in the BRCA2 and other cancer predisposition genes through hereditary cancer testing cannot benefit from specific risk assessment, prevention, screening and therapeutic strategies. Here we report on analysis of the impact of all possible missense variants in the BRCA2 DNA Binding Domain mutation hotspot on cell viability using a CRISPR/cas9 knock-in approach. The functional assessment and associated ACMG/AMP/ClinGen clinical classification of all possible variants will allow many individuals to benefit from improved care and management.

How do you hope your presentation will impact breast cancer research, care, or advocacy?
The classification of 6959 single nucleotide variants from BRCA2 will provide information for enhanced functional studies of BRCA2 and improved risk assessment and management of individuals with these germline or somatic variants.

How did you get involved in this particular area of breast cancer research, care, or advocacy?
I was involved in the identification of BRCA1 and BRCA2 genes 30 years ago and have focused on interpretation of germline variants in these and other genes since that time.