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

doi:10.1016/S0002-9440(10)63091-X

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Article

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

The American journal of pathology - 1 Jan 2004

Lehtonen Rainer, Kiuru Maija, Vanharanta Sakari, Sjöberg Jari, Aaltonen Leena-Maija, Aittomäki Kristiina, Arola Johanna, Butzow Ralf, Eng Charis, Husgafvel-Pursiainen Kirsti, Isola Jorma, Järvinen Heikki, Koivisto Pasi, Mecklin Jukka-Pekka, Peltomäki Päivi, Salovaara Reijo, Wasenius Veli-Matti, Karhu Auli, Launonen Virpi, Nupponen Nina N, Aaltonen Lauri A

Abstract excerpt

Germline mutations in the fumarate hydratase (FH) gene at 1q43 predispose to dominantly inherited cutaneous and uterine leiomyomas, uterine leiomyosarcoma, and papillary renal cell cancer (HLRCC syndrome). To evaluate the role of FH inactivation in sporadic tumorigenesis, we analyzed a series of 299 malignant tumors representing 10 different malignant tumor types for FH mutations. Additionally, 153 uterine...

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Identifiers

PMID: 14695314
DOI: 10.1016/S0002-9440(10)63091-X
PMCID: PMC1602244

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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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Biallelic inactivation of fumarate hydratase (FH) occurs in nonsyndromic uterine leiomyomas but is rare in other tumors.PMID 14695314Read ↗

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