Speaker:

Allison W. Kurian, M.D., M.Sc.

Associate Professor of Medicine (Oncology) and of Health Research and Policy

Director, Women’s Clinical Cancer Genetics Program

Stanford University School of Medicine

Abstract:

Germline multiple-gene sequencing has rapidly become the standard method of clinical cancer risk assessment. In patients with breast cancer or ovarian cancer, pathogenic variants in BRCA1 and BRCA2 are most prevalent, but a significant number of patients are found to carry pathogenic (or likely pathogenic) variants in a wide range of other genes whose cancer risks are less well- characterized. While pathogenic variants in less well-characterized genes are prevalent, the appropriate clinical management of carriers remains unclear. Questions remain about the magnitude of risk associated with a pathogenic variant in a specific gene; the spectrum of associated cancers; and the extent to which these factors are modified by family history.

I will discuss the SEER-GeneLINK initiative, in which we have collaborated with genetic testing laboratories to link the results of clinical genetic testing to Surveillance, Epidemiology and End Results registry records of breast and ovarian cancer patients. Furthermore, we have surveyed these patients and their attending physicians about key aspects of genetic testing and clinical management of cancer risks. We are now extending this study to encompass cascade genetic testing of patients’ relatives. Recent results on the use, correlates and results of genetic testing on the population level will be presented.