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Article

Increased risk of cancer in patients with fumarate hydratase germline mutation.

Journal of medical genetics - 1 Jun 2006

Lehtonen H J, Kiuru M, Ylisaukko-Oja S K, Salovaara R, Herva R, Koivisto P A, Vierimaa O, Aittomäki K, Pukkala E, Launonen V, Aaltonen L A

Abstract excerpt

Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a tumour predisposition syndrome caused by heterozygous germline mutations in the fumarate hydratase (FH) gene. The condition is characterised by predisposition to benign leiomyomas of the skin and the uterus, renal cell carcinoma (RCC), and uterine leiomyosarcoma (ULMS). To comprehensively examine the cancer risk and tumour spectrum in Finnish FH...

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Identifiers

PMID: 16155190
DOI: 10.1136/jmg.2005.036400
PMCID: PMC2564537

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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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Increased risk of cancer in patients with fumarate hydratase germline mutation.PMID 16155190Read ↗

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

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