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Article

Strong family history of uterine leiomyomatosis warrants fumarate hydratase mutation screening.

Human reproduction (Oxford, England) - 1 Jun 2012

Tolvanen Jaana, Uimari Outi, Ryynänen Markku, Aaltonen Lauri A, Vahteristo Pia

Abstract excerpt

Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a tumor predisposition syndrome characterized by cutaneous and uterine leiomyomas and renal cell cancer. HLRCC is caused by heterozygous germline mutations in the fumarate hydratase (FH) gene. A Finnish family with nine closely related women with uterine leiomyomas was detected by an alert gynecologist. No cutaneous or renal cell tumors were reported in...

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PMID: 22473397
DOI: 10.1093/humrep/des105

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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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Strong family history of uterine leiomyomatosis warrants fumarate hydratase mutation screening.PMID 22473397Read ↗

The syndrome of hereditary leiomyomatosis and renal cell cancer (HLRCC): The clinical features of an individual with a fumarate hydratase gene mutation.Semantic proximity Read ↗

The genetics of uterine leiomyomata: what clinicians need to know.Semantic proximity Read ↗

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

Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC): Report of a Family Pedigree.Semantic proximity Read ↗

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

Novel fumarate hydratase mutation in a family with atypical uterine leiomyomas and hereditary leiomyomatosis and renal cell cancer.Semantic proximity Read ↗

Clinical and molecular genetic aspects of hereditary multiple cutaneous leiomyomatosis.Semantic proximity Read ↗

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

Fumarate Hydratase Mutation in a Young Woman With Uterine Leiomyomas and a Family History of Renal Cell Cancer.Semantic proximity Read ↗

Increased risk of cancer in patients with fumarate hydratase germline mutation.Semantic proximity Read ↗

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

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