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Investigating Novel Genetic Risk Factors for Hereditary Renal Cancer

Posted on Wednesday, May 17, 2017

Renal cell cancer (RCC) is among the more commonly diagnosed cancers in both men and women. Hereditary renal cancers make up approximately 3-5% of renal cell cancers. Some genetic mutations have been identified in families and have been associated with high levels of inherited risk. The seven known renal cancer genes--VHL, MET, FLCN, TSC1, TSC2, FH and SDH--are involved in cellular metabolism, which is a chain of chemical reactions that maintain life. Other genes are involved in DNA damage response and repair; these genes protect our genome against genotoxic insults, which can cause mutations and cancer.

Sanjeevani Arora, PhDSanjeevani Arora, PhDHowever, despite this progress, the majority of hereditary renal cancer cases remain genetically undefined. It is likely that there are other genes that present low-to-moderate risk, fall under similar pathways like the high-risk genes and contribute towards inherited genetic risk. In a new study at Fox Chase Cancer Center, Sanjeevani Arora, PhD along with Mary Daly, MD director of the Risk Assessment Program, and other researchers have examined the genetic basis of hereditary renal cell cancer of genetically undefined cases.

The study has analyzed 25 early-onset familial RCC cancer cases from Risk Assessment Program families utilizing Next-Generation Sequencing technology to study genetic changes. The investigators studied the entire network of genes that are involved in cellular metabolism, DNA damage response and repair, and genes known to be involved in renal disease. Through sequencing, novel or rare germline variants (inherited genetic alterations) were identified, and functional studies are being performed to confirm genomic findings. Further studies could explain novel molecular factors, which may help predict risk within families and improve screening and diagnosis.

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About Risk Assessment Program

The Risk Assessment Program at Fox Chase Cancer Center is a clinical and research service run by the Department of Clinical Genetics that offers education, screening and counseling to individuals with cancer and those who are at risk of getting cancer. A leader in cancer prevention and risk assessment, Fox Chase offers the most comprehensive risk assessment program in the Philadelphia region. It encompasses all of Fox Chase’s clinical services for healthy people at risk for cancer, as well as innovative research in the areas of cancer prevention and genetics. The Fox Chase cancer risk assessment team conducts research into how cancer develops, how it can be prevented, and how it can best be treated, with the goal of reducing the risk of cancer for individuals, families and communities.

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