Datasets, Doctors, and Disease: Bridging the gap from genomics analysis to clinical change

Kimryn Rathmell
University of North Carolina
Medical School

Alexander Professor of Translational Research, Departments of Medicine/Oncology and Genetics, UNC Lineberger Comprehensive Cancer Center, University of North Carolina at Chapel Hill

The comprehensive genomic classification of cancers has the potential to vastly change the ways we treat cancer. Renal cell carcinoma refers to a heterogeneous group of diseases that was largely neglected until recently, including clear cell renal cell carcinoma, chromophobe renal cell carcinoma, and papillary renal cell carcinoma. The Cancer Genome Atlas (TCGA) initiative has provided the opportunity to for the first time undertake a wide-ranging evaluation of these diseases. This opportunity allows the chance to resolve the distinguishing features of each renal cell carcinoma subtype from other kidney derived tumors and the complement of human malignancy. Baseline analysis has completed for the clear cell and chromophobe subtype, and remains ongoing for the papillary type renal cell carcinomas. This has revealed unique metabolic signatures for both tumors, and surprisingly low rates of mutations compared with other tumors. This data awaits integration across tumor types, and detailed studies to explore the vast inter-relationships that exist between genome structure, sequence, and methylation, as well as features for mRNA transcripts, non-coding RNA, and protein profiles. The findings have and will continue to shape the way doctors and disease-focused researchers approach these cancers. This presentation will discuss the findings of the marker studies for these two diseases and address relevant disease questions that remain for future exploration of this remarkable dataset to maximize it’s potential to shape the management of kidney cancers.

Presentation (PDF File)

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