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Article

Kidney tumors associated with germline mutations of FH and SDHB show a CpG island methylator phenotype (CIMP).

PloS one - 1 Jan 2022

Ricketts Christopher J, Killian J Keith, Vocke Cathy D, Wang Yonghong, Merino Maria J, Meltzer Paul S, Linehan W Marston

Abstract excerpt

Germline mutations within the Krebs cycle enzyme genes fumarate hydratase (FH) or succinate dehydrogenase (SDHB, SDHC, SDHD) are associated with an increased risk of aggressive and early metastasizing variants of renal cell carcinoma (RCC). These RCCs express significantly increased levels of intracellular fumarate or succinate that inhibit 2-oxoglutarate-dependent dioxygenases, such as the TET enzymes that...

Topics

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Apoptosis Regulatory Proteins
Carcinoma, Renal Cell
Fumarate Hydratase
Kidney Neoplasms
Leiomyomatosis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Neoplastic Syndromes, Hereditary

Succinate Dehydrogenase

Uterine Neoplasms

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Identifiers

PMID: 36455002
DOI: 10.1371/journal.pone.0278108
PMCID: PMC9714951

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