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Segregation, immunohistochemical, molecular and functional analyses classify a novel missense variant in fumarate hydratase (FH) as pathogenic.

Genes, chromosomes & cancer - 1 Feb 2024

Ouchene Lydia, Wilde Blake, Chan-Pak-Choon Fiona, Camacho Valenzuela Jose, Brimo Fadi, Witkowski Leora, Christofk Heather, Domecq Celine, Fu Lili, Weber Evan, Lemieux Anglin Brianna, Netchiporouk Elena, Foulkes William D

Abstract excerpt

Hereditary leiomyomatosis and renal cell cancer (HLRCC) is an autosomal dominant cancer predisposition syndrome characterized by cutaneous leiomyomas, uterine leiomyomas, and aggressive renal cancer. Germline variants in the fumarate hydratase (FH) gene predispose to HLRCC. Identifying germline pathogenic FH variants enables lifetime renal cancer screening and genetic testing for family members. In this report,...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 38682608
DOI: 10.1002/gcc.23221

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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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Segregation, immunohistochemical, molecular and functional analyses classify a novel missense variant in fumarate hydratase (FH) as pathogenic.PMID 38682608Read ↗

Fumarate Hydratase-deficient Uterine Leiomyomas Occur in Both the Syndromic and Sporadic Settings.Semantic proximity Read ↗

Novel morphological and genetic features of fumarate hydratase deficient renal cell carcinoma in HLRCC syndrome patients with a tailored therapeutic approachSemantic proximity Read ↗

A new missense mutation c.1240A>G in fumarate hydratase gene leads to uterine leiomyoma associated hereditary leiomyomatosis and renal cell cancer (HLRCC) syndrome in ChineseSemantic proximity Read ↗

Targeted sequencing of FH-deficient uterine leiomyomas reveals biallelic inactivating somatic fumarase variants and allows characterization of missense variantsSemantic proximity Read ↗

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Multiple cutaneous leiomyomas leading to discovery of novel splice mutation in the fumarate hydratase gene associated with HLRCC.Semantic proximity Read ↗

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Hereditary leiomyomatosis and renal cell cancer in families referred for fumarate hydratase germline mutation analysis.Semantic proximity Read ↗

Targeted sequencing of FH-deficient uterine leiomyomas reveals biallelic inactivating somatic fumarase variants and allows characterization of missense variantsSemantic proximity Read ↗

Estimation of the carrier frequency of fumarate hydratase alterations and implications for kidney cancer risk in hereditary leiomyomatosis and renal cancer.Semantic proximity Read ↗

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