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Article

Involvement of fumarate hydratase in nonsyndromic uterine leiomyomas: genetic linkage analysis and FISH studies.

Genes, chromosomes & cancer - 1 Nov 2004

Gross Karen L, Panhuysen Carolien I M, Kleinman Michael S, Goldhammer Hilary, Jones Emlyn S, Nassery Najlla, Stewart Elizabeth A, Morton Cynthia C

Abstract excerpt

Recently, germline mutations of the fumarate hydratase (FH) gene, in 1q42.1, have been found to be involved in syndromes associated with uterine leiomyomas (ULs). Compelling evidence also supports a genetic liability to develop nonsyndromic UL, although susceptibility genes have not been reported to date. Loss of heterozygosity (LOH) studies have found no or rare evidence of LOH of FH in nonsyndromic UL. However,...

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Identifiers

PMID: 15334541
DOI: 10.1002/gcc.20079

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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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Involvement of fumarate hydratase in nonsyndromic uterine leiomyomas: genetic linkage analysis and FISH studies.PMID 15334541Read ↗

Biallelic inactivation of fumarate hydratase (FH) occurs in nonsyndromic uterine leiomyomas but is rare in other tumors.Semantic proximity Read ↗

Genetic heterogeneity among uterine leiomyomata: insights into malignant progression.Semantic proximity Read ↗

No evidence for the role of somatic mutations and promoter hypermethylation of FH gene in the tumorigenesis of nonsyndromic uterine leiomyomas.Semantic proximity Read ↗

Prevalence of somatic and germline mutations of Fumarate hydratase in uterine leiomyomas from young patientsSemantic proximity Read ↗

Fumarate hydratase mutations and predisposition to cutaneous leiomyomas, uterine leiomyomas and renal cancer.Semantic proximity Read ↗

Fumarate hydratase gene mutation in two young patients with sporadic uterine fibroids.Semantic proximity Read ↗

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

Analysis of fumarate hydratase mutations in a population‐based series of early onset uterine leiomyosarcoma patientsSemantic proximity Read ↗

Germline fumarate hydratase mutations and evidence for a founder mutation underlying multiple cutaneous and uterine leiomyomata.Semantic proximity Read ↗

Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer.Semantic proximity Read ↗

Association of Germline Mutations in the Fumarate Hydratase Gene and Uterine Fibroids in Women With Hereditary Leiomyomatosis and Renal Cell CancerSemantic proximity Read ↗

Fine mapping of the uterine leiomyoma locus on 1q43 close to a lncRNA in the RGS7-FH interval.Semantic proximity Read ↗

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