Article
Prevalence of pathogenic variants in DNA damage response and repair genes in patients undergoing cancer risk assessment and reporting a personal history of early-onset renal cancer.
Scientific reports - 11 Aug 2020
Hartman Tiffiney R, Demidova Elena V, Lesh Randy W, Hoang Lily, Richardson Marcy, Forman Andrea, Kessler Lisa, Speare Virginia, Golemis Erica A, Hall Michael J, Daly Mary B, Arora Sanjeevani
Abstract excerpt
Pathogenic variants (PVs) in multiple genes are known to increase the risk of early-onset renal cancer (eoRC). However, many eoRC patients lack PVs in RC-specific genes; thus, their genetic risk remains undefined. Here, we determine if PVs in DNA damage response and repair (DDRR) genes are enriched in eoRC patients undergoing cancer risk assessment. Retrospective review of de-identified results from 844 eoRC...
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