Dr. Tomlinson’s research interests are in translational aspects of childhood cancer genetic predisposition. Currently divide her research focus approximately equally between the study of genetic etiologies of pediatric embryonal tumors, particularly the childhood liver tumor, hepatoblastoma, and population genetics of cancer predisposition.

Such interests in hepatoblastoma have focused in part on defining genetic polymorphisms, which contribute to cancer risk. Because hepatoblastoma histologically resembles fetal and embryonal liver elements, we are currently focusing on genes which are crucial to embryonic growth and development. We are also focusing on the characterization of a recurring breakpoint region on chromosome 1q12 using fine-tiling oligonucleotide array comparative genomic hybridization. We have recently identified a candidate gene, NOTCH2, involved in hepatic development which is affected by this translocation breakpoint. We are investigating the biologic role of NOTCH2 in hepatoblastoma and in addition we are in the process of determining this gene’s translocation partners on other chromosomes.

She is also embarking on a comprehensive study of genetic risk factors specific to the population of Texas which is largely made up of Hispanic children who may have specific and unique risk factors for cancer. We have identified several polymorphisms which may serve to increase cancer risk in this population and are currently planning to extend these studies to include a study of gene-environmental interactions.