Cancer Genetics: Melanoma and Testicular Cancer
The primary focus of my laboratory is on cancer genetics. In collaboration with Norman Lassam (who tragically died in August, 2000) my laboratory described one of the first families with a germline mutation in the CDKN2A gene (Liu et al., Oncogene, 11: 405-412, 1995).
We went on to establish a program in inherited melanoma. The overall aim of the Toronto melanoma clinic is to utilize progress in cancer genetic research to focus preventative efforts on a population at high risk for this disease. We hypothesize that such directed surveillance will decrease morbidity and mortality from melanoma in the families and individuals under our care.
The Toronto melanoma program now comprises a clinic to identify and counsel families at risk; a clinical genetic laboratory dedicated to CDKN2A mutation testing; and a basic science program to characterize other genes that predispose to melanoma.
The clinic's multidisciplinary staff includes oncologists, dermatologists, nursing staff, plastic surgeons, a medical geneticist and social workers. Over the past four years, we have accrued over 200 melanoma families and have screened 170 of these kindreds for CDKN2A mutations (e.g.: Liu et al., Nature Genetics, 21: 128-132, 1999). We have also determined that a significant number of patients with multiple primary melanomas carry such mutations (Monzon et al. NEJM 338: 879-887, 1998).
My second major area of interest is the genetic basis of inherited and sporadic testicular germ cell cancer (for example, see Peng et al., Cancer Res., 55: 2871-2875, 1995; King et al., Cancer Res. 57: 209-214, 1997). I am also a member of the International Testicular Cancer Mapping Consortium. We recently published the first description of a testicular cancer susceptibility gene mapping to chromosome Xq27 (Rapley et al., Nature Genetics, 24:197-200, 2000).