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Candidate variants in DNA replication and repair genes in early-onset renal cell carcinoma patients referred for germline testing

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...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10123997/
https://www.ncbi.nlm.nih.gov/pubmed/37095444
http://dx.doi.org/10.1186/s12864-023-09310-8