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

doi:10.1158/1078-0432.CCR-22-1703

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Article

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

Clinical cancer research : an official journal of the American Association for Cancer Research - 17 Jan 2023

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

Abstract excerpt

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 variants (PGV) identified. Allele-specific and gene-centered analysis of enrichment was conducted and a validation cohort...

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Identifiers

PMID: 36346689
DOI: 10.1158/1078-0432.CCR-22-1703
PMCID: PMC9843434

Genes

NBN
MRE11

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