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Article

No germline FH mutations in familial breast cancer patients.

European journal of human genetics : EJHG - 1 Apr 2005

Kiuru Maija, Lehtonen Rainer, Eerola Hannaleena, Aittomäki Kristiina, Blomqvist Carl, Nevanlinna Heli, Aaltonen Lauri A, Launonen Virpi

Abstract excerpt

Fumarate hydratase: (FH) was recently identified as the predisposing gene for a tumor predisposition syndrome, hereditary leiomyomatosis and renal cell cancer (HLRCC) (MIM 605839). In HLRCC, individuals with a germline heterozygous mutation in the FH gene typically develop benign leiomyomas of the skin and the uterus (fibroids, myomas). In a subset of the families, predisposition to renal cell carcinoma and...

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Identifiers

PMID: 15523491
DOI: 10.1038/sj.ejhg.5201326

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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.

Related research

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No germline FH mutations in familial breast cancer patients.PMID 15523491Read ↗

Novel mutations in FH and expansion of the spectrum of phenotypes expressed in families with hereditary leiomyomatosis and renal cell cancer.Semantic proximity Read ↗

No evidence for a genetic modifier for renal cell cancer risk in HLRCC syndrome.Semantic proximity Read ↗

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

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

Strong family history of uterine leiomyomatosis warrants fumarate hydratase mutation screening.Semantic proximity Read ↗

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

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

Mutations in the fumarate hydratase gene cause hereditary leiomyomatosis and renal cell cancer in families in North America.Semantic proximity Read ↗

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

Absence of fumarate hydratase mutation in a family with cutaneous leiomyosarcoma and renal cancer.Semantic proximity Read ↗

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

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