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Low frequency of somatic mutations in the FH/multiple cutaneous leiomyomatosis gene in sporadic leiomyosarcomas and uterine leiomyomas.

Barker, KT; Bevan, S; Wang, R; Lu, YJ; Flanagan, AM; Bridge, JA; Fisher, C; Finlayson, CJ; Shipley, J; Houlston, RS (2002) Low frequency of somatic mutations in the FH/multiple cutaneous leiomyomatosis gene in sporadic leiomyosarcomas and uterine leiomyomas. Br J Cancer, 87 (4). 446 - 448. ISSN 0007-0920 https://doi.org/10.1038/sj.bjc.660502
SGUL Authors: Bevan, Stephen Nicholas

Abstract

Germline mutations in the fumarate hydratase gene at 1q43 predispose to dominantly inherited skin and uterine leiomyomata and leiomyosarcomas. The enzyme, which is a component of the tricarboxylic acid cycle, acts as a tumour suppressor. To evaluate fumarate hydratase in respective sporadic tumours, we analysed a series of 26 leiomyosarcomas and 129 uterine leiomyomas (from 21 patients) for somatic mutations in fumarate hydratase and allelic imbalance around 1q43. None of the 26 leiomyosarcomas harboured somatic mutations in fumarate hydratase. Fifty per cent of leiomysarcomas tested showed evidence of allelic imbalance at 1q, but this was not confined to the vicinity of fumarate hydratase. Only 5% (seven out of 129) of the leiomyomas showed allele imbalance at 1q42-q43 and no somatic mutations in fumarate hydratase were observed. Our findings indicate that mutations in fumarate hydratase do not play a major role in the development of sporadic leiomyosarcomas or uterine leiomyomas

Item Type: Article
Additional Information: PMCID: PMC2376129
Keywords: Adult, Female, Fumarate Hydratase, Humans, Leiomyoma, Leiomyomatosis, Leiomyosarcoma, Middle Aged, Mutation, Skin Neoplasms, Uterine Neoplasms
Journal or Publication Title: Br J Cancer
ISSN: 0007-0920
Dates:
DateEvent
12 August 2002Published
PubMed ID: 12177782
Web of Science ID: 12177782
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URI: http://openaccess.sgul.ac.uk/id/eprint/1072
Publisher's version: https://doi.org/10.1038/sj.bjc.660502

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