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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

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...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7419503/
https://www.ncbi.nlm.nih.gov/pubmed/32782288
http://dx.doi.org/10.1038/s41598-020-70449-5