Dr. Tomlins research has focused on using high-throughput techniques to characterize the cancer genome and transcriptome to understand cancer biology and identify clinically relevant biomarkers and therapeutic targets. His most important contribution has been discovering and characterizing TMPRSS2:ETS gene fusions in prostate cancer. As a practicing genitourinary pathologist, he has led the translation of ETS gene fusions into diagnostic and early detection biomarkers. He also led studies characterizing additional basic prostate cancer molecular subtypes. More recently, his research has focused on comprehensive characterization of the cancer genome through next generation sequencing (NGS), including the first comprehensive exome sequencing based study of lethal castration resistant prostate cancer.
Dr. Tomlins’ laboratory has developed, validated and applied multiple targeted NGS approaches compatible with routine formalin fixed paraffin embedded (FFPE) tissue samples. Using these tools, they have profiled numerous cancer types in addition to prostate, including bladder, breast (phyllodes tumors), penile, ovarian, adrenocortical and lymphomas. Ongoing efforts aim to translate these findings to potential biomarkers, predictive and prognostic signatures, therapeutic targets, and candidates for functional evaluation. Functional genomic studies are also ongoing to characterize identified alterations as they relate to cancer development, progression, and therapeutic response.