The context-specific role of germline pathogenicity in tumorigenesis.

doi:10.1038/s41588-021-00949-1

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Article

The context-specific role of germline pathogenicity in tumorigenesis.

Nature genetics - 1 Nov 2021

Srinivasan Preethi, Bandlamudi Chaitanya, Jonsson Philip, Kemel Yelena, Chavan Shweta S, Richards Allison L, Penson Alexander V, Bielski Craig M, Fong Christopher, Syed Aijazuddin, Jayakumaran Gowtham, Prasad Meera, Hwee Jason, Sumer Selcuk Onur, de Bruijn Ino, Li Xiang, Gao JianJiong, Schultz Nikolaus, Cambria Roy, Galle Jesse, Mukherjee Semanti, Vijai Joseph, Cadoo Karen A, Carlo Maria I, Walsh Michael F, Mandelker Diana, Ceyhan-Birsoy Ozge, Shia Jinru, Zehir Ahmet, Ladanyi Marc, Hyman David M, Zhang Liying, Offit Kenneth, Robson Mark E, Solit David B, Stadler Zsofia K, Berger Michael F, Taylor Barry S

Abstract excerpt

Human cancers arise from environmental, heritable and somatic factors, but how these mechanisms interact in tumorigenesis is poorly understood. Studying 17,152 prospectively sequenced patients with cancer, we identified pathogenic germline variants in cancer predisposition genes, and assessed their zygosity and co-occurring somatic alterations in the concomitant tumors. Two major routes to tumorigenesis were...

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PMID: 34741162
DOI: 10.1038/s41588-021-00949-1
PMCID: PMC8957388

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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