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Article

Different Fumarate Hydratase Gene Variants Are Associated With Distinct Cancer Phenotypes.

JCO precision oncology - 1 Nov 2021

Kamihara Junne, Horton Carrie, Tian Yuan, Zhou Jing, Richardson Marcy, LaDuca Holly, Rana Huma Q

Abstract excerpt

PURPOSE: Whether individuals with monoallelic FH pathogenic variants (PVs) associated with autosomal recessive fumarate hydratase (FH) deficiency are also at risk of autosomal dominant FH-associated tumors is of paramount clinical importance. METHODS: A retrospective study of individuals with a PV in the FH gene identified via multigene panel testing from 2012 to 2019 through a single testing laboratory was...

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Identifiers

PMID: 34994643
DOI: 10.1200/PO.21.00263

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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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