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NBN Pathogenic Germline Variants are Associated with Pan-Cancer Susceptibility and In Vitro DNA Damage Response Defects

PURPOSE: To explore the role of NBN as a pan-cancer susceptibility gene. EXPERIMENTAL DESIGN: Matched germline and somatic DNA samples from 34,046 patients were sequenced using Memorial Sloan Kettering-Integrated Mutation Profiling of Actionable Cancer Targets and presumed pathogenic germline varian...

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Detalles Bibliográficos
Autores principales: Belhadj, Sami, Khurram, Aliya, Bandlamudi, Chaitanya, Palou-Márquez, Guillermo, Ravichandran, Vignesh, Steinsnyder, Zoe, Wildman, Temima, Catchings, Amanda, Kemel, Yelena, Mukherjee, Semanti, Fesko, Benjamin, Arora, Kanika, Mehine, Miika, Dandiker, Sita, Izhar, Aalin, Petrini, John, Domchek, Susan, Nathanson, Katherine L., Brower, Jamie, Couch, Fergus, Stadler, Zsofia, Robson, Mark, Walsh, Michael, Vijai, Joseph, Berger, Michael, Supek, Fran, Karam, Rachid, Topka, Sabine, Offit, Kenneth
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Association for Cancer Research 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9843434/
https://www.ncbi.nlm.nih.gov/pubmed/36346689
http://dx.doi.org/10.1158/1078-0432.CCR-22-1703