Article
Candidate variants in DNA replication and repair genes in early-onset renal cell carcinoma patients referred for germline testing.
BMC genomics - 24 Apr 2023
Demidova Elena V, Serebriiskii Ilya G, Vlasenkova Ramilia, Kelow Simon, Andrake Mark D, Hartman Tiffiney R, Kent Tatiana, Virtucio James, Rosen Gail L, Pomerantz Richard T, Dunbrack Roland L, Golemis Erica A, Hall Michael J, Chen David Y T, Daly Mary B, Arora Sanjeevani
Abstract excerpt
BACKGROUND: Early-onset renal cell carcinoma (eoRCC) is typically associated with pathogenic germline variants (PGVs) in RCC familial syndrome genes. However, most eoRCC patients lack PGVs in familial RCC genes and their genetic risk remains undefined. METHODS: Here, we analyzed biospecimens from 22 eoRCC patients that were seen at our institution for genetic counseling and tested negative for PGVs in RCC...
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