BETHESDA, MD USA (UroToday.com) - W. Kimryn Rathmell, MD, PhD began her presentation by describing the Cancer Genome Atlas (TCGA) which was expanded to include clear cell renal cell carcinoma (ccRCC) after successful pilot projects in ovarian cancer and glioblastoma. The ccRCC data, as expected, demonstrated vHL mutations in a majority of patients (50-60%). A high rate of changes within the PI(3)K pathway as well as in chromatin regulating genes such as PBRM1, SETD2, BAP1 and KDM5C was also seen. DNA hyper-methylation was demonstrated to be a marker for more advanced stage and grade disease. Dr. Rathmell further discussed the major role of changes in the metabolic pathways in ccRCC.
She concluded by stating that most of the TGCA data is openly accessible or available through an application. She pointed the audience to http://www.cbioportal.org/public-portal/.
Presented by:
W. Kimryn Rathmell, MD, PhD
University of North Carolina School of Medicine, Chapel Hill, NC USA
Reported by:
Timothy Ito, MD from the 14th Annual Meeting of the Society of Urologic Oncology (SUO) "Extraordinary Opportunities for Discovery" - December 4 - 6, 2013 - Bethesda, MD USA
Fox Chase Cancer Center, 333 Cottman Avenue, Philadelphia, PA USA
