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Article

Prevalence of Germline Mutations in Cancer Susceptibility Genes in Patients With Advanced Renal Cell Carcinoma.

JAMA oncology - 1 Sept 2018

Carlo Maria I, Mukherjee Semanti, Mandelker Diana, Vijai Joseph, Kemel Yelena, Zhang Liying, Knezevic Andrea, Patil Sujata, Ceyhan-Birsoy Ozge, Huang Kuo-Cheng, Redzematovic Almedina, Coskey Devyn T, Stewart Carolyn, Pradhan Nisha, Arnold Angela G, Hakimi A Ari, Chen Ying-Bei, Coleman Jonathan A, Hyman David M, Ladanyi Marc, Cadoo Karen A, Walsh Michael F, Stadler Zsofia K, Lee Chung-Han, Feldman Darren R, Voss Martin H, Robson Mark, Motzer Robert J, Offit Kenneth

Abstract excerpt

Importance: Identification of patients with hereditary renal cell carcinoma (RCC) is important for cancer screening and, in patients with advanced disease, for guiding treatment. The prevalence of cancer-related germline mutations in patients with advanced RCC and the phenotypes associated with some rare mutations are unknown. Objectives: To examine the prevalence of germline mutations in both known RCC...

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Identifiers

PMID: 29978187
DOI: 10.1001/jamaoncol.2018.1986
PMCID: PMC6584283

Genes

CHEK2
BAP1
MET
SDHA
SDHB
VHL

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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