Dr. William Foulkes
Professor - Department of Medicine, Division of Experimental Medicine, Oncology and Human Genetics
I am a senior clinician-scientist who has worked in the area of inherited susceptibility to cancer for nearly 30 years. My research career centers on understanding inherited susceptibility to cancer: my research program ranges from cancer gene mutation discovery to clinical applications. This work is intimately associated with my clinical career, as this process enables us to directly use patients as a source of discovery and to rapidly translate the results of our work for the benefit of patients and their families.
1. SCCOHT & SMARCA4
My group was one of 4 groups who discovered that the rare ovarian cancer SCCOHT is caused by mutations in SMARCA4 in 2014. My team is currently working to improve VUS classification strategies for SMARCA4.
2. DICER1 syndrome
Since 2009, my team has worked to characterize the phenotypes and genetic alterations involved in this pleiotropic tumor syndrome where mutation carriers have an increased risk of developing tumors from infancy to early adulthood. This work is on-going.
3. Rare / unexplained familial tumors
As a clinical geneticist, I routinely see cases in the clinic where a genetic predisposition is clear but where no underlying genetic lesion can be identified via routine genetic testing. Several research projects in my group have grown from trying to elucidate such cases.