Children's - Hematology-Oncology Hamon Center for Therapeutic Oncology McDermott Center for Human Growth Development Simmons Comprehensive Cancer Center
Gail E. Tomlinson, M.D.,Ph.D. Personal Statement August , 2006
My research and clinical interests are in the area of genetic predisposition to cancer. Ongoing clinical interests include pediatric solid tumors, late effects of cancer treatment, cancer risk assessment, and cancer genetic testing and counseling in high-risk families. I direct the Clinical Cancer Genetics program within the Simmons Cancer Center which is staffed by three genetic counselors. In this program we see approximately 800 families per year at high risk of the more common tumor types, primarily breast, ovarian and colon cancer. We have recently initiated a high-risk registry and clinical research program for Von Hippel Lindau Disease. We are also developing cancer genetic counseling programs for pediatric tumors including retinoblastoma and infant brain tumors. These activities take place in the Seay Biomedical Building on the UTSW North Campus and in addition at Moncrief Cancer Resources in Fort Worth and at Childrens Medical Center of Dallas. My laboratory interests are in 1) genetic factors influencing childhood cancer risk 2) the genetic predisposition to breast cancer, including families with BRCA1, BRCA2, as well as other genes. In the area of pediatric cancers, I have focused in the laboratory primarily on hepatoblastoma and rhabdoid tumors. We recently reported on two genetic polymorphisms which influence the risk of hepatoblastoma the myeloperoxidase gene, variation of which influences relative risk and the cyclin D1 gene, variation of which influences the age of onset. We have also recently characterized translocations involving chromosome 1q12 breakpoints in hepatoblastoma and have identified a novel developmental pathway involved in this tumor type. In the area of rhabdoid tumor, we recently genetically characterized infants with double primary tumors of the kidney and brain. We also recently completed a genome-wide search for other areas of loss of heterozygosity in rhabdoid tumors of the kidney, many of which were known to have germline hSNF5/INI1 mutations. We observed few overall genomic changes in rhabdoid tumors suggesting that these tumors may not require additional genetic events. In the area of breast cancer, my group in collaboration with Dr. Adi Gazdar, has worked to develop and characterize two tumor cell lines deficient in BRCA1. The first cell line HCC1937 is derived from a BRCA1-5382insC mutation carrier. This cell line has been used by many laboratories to characterize the function of BRCA1. The second cell line, HCC3153 derives from a carrier of the African American founder mutation BRCA1-943ins10. We are currently looking at the role of genetic modifiers in refinement of breast cancer risk in BRCA1 and BRCA2 families. Mentoring young investigators interested in translational cancer research is a priority of mine. My lab and research program have been a home for numerous post-doctoral research fellows as well as students including medical students, undergraduate interns and high school seniors. Many of these students have gone on to pursue careers in biomedical research.
