Since 1991, the Risk Assessment Program has received strong support from its clinical and research participants and referring providers. Over 11,000 patients have joined RAP’s registry and donated epidemiologic data and a biospecimen (~8,000 blood donations). This valuable resource is available to FCCC investigators and the wider genetics community and has generated significant grant support, publications, and presentations at national/international venues. RAP, the research component of the Department of Clinical Genetics, is part of the FCCC Cancer Prevention and Control (CPC) program. RAP maintains close collaborations with clinical, behavioral, and laboratory scientists with research interests in genetic risk and cancer prevention. RAP administers studies of the biological, genetic and environmental factors that influence cancer risk. RAP has established a unique registry of family data, blood, and tissue samples that is used to study the genetic basis of cancer. Our work is supported by funding from governmental, foundation, industry, and philanthropic sources and has contributed significantly to the field.

My group’s research is in three areas related to GI genetic risk and risk assessment. My primary syndrome of expertise and study is Lynch syndrome, but I have also performed research among all high risk GI patients, patients with hereditary breast/ovarian cancer and BRCA1/2 mutations, hereditary pancreatic cancer, high risk renal cell cancers, and others:

1. Characterization of genetic risks associated with germline genes and molecular genetic changes that increase cancer risks including gene discovery. Our research has included studies to characterize the spectrum of cancer risk associated with hereditary risk genes, studies in high risk patients recruited through our Risk Assessment Program database to identify new cancer risks, and characterization of molecular risks in high risk patients such as TMB, MSI, and others.
2. Communication of genetic risks to patients, whether related to novel tests (tumor genomic testing), novel pathways for communication of genetic risk information (telephone, online, etc), and supports for communication.
3. Disparities associated with risk assessment and clinical genetics testing awareness, access, utilization, communication of results in families, and use of preventive screening.