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Low frequency of somatic mutations in the FH/multiple cutaneous leiomyomatosis gene in sporadic leiomyosarcomas and uterine leiomyomas.
Br J Cancer. 2002 Aug 12; 87(4):446-8.BJ

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

Authors+Show Affiliations

Section of Cancer Genetics, Haddow Laboratories, Institute of Cancer Research, 15 Cotswold Road, Sutton, Surrey SM2 5NG, UK.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

12177782

Citation

Barker, K T., et al. "Low Frequency of Somatic Mutations in the FH/multiple Cutaneous Leiomyomatosis Gene in Sporadic Leiomyosarcomas and Uterine Leiomyomas." British Journal of Cancer, vol. 87, no. 4, 2002, pp. 446-8.
Barker KT, Bevan S, Wang R, et al. Low frequency of somatic mutations in the FH/multiple cutaneous leiomyomatosis gene in sporadic leiomyosarcomas and uterine leiomyomas. Br J Cancer. 2002;87(4):446-8.
Barker, K. T., Bevan, S., Wang, R., Lu, Y. J., Flanagan, A. M., Bridge, J. A., Fisher, C., Finlayson, C. J., Shipley, J., & Houlston, R. S. (2002). Low frequency of somatic mutations in the FH/multiple cutaneous leiomyomatosis gene in sporadic leiomyosarcomas and uterine leiomyomas. British Journal of Cancer, 87(4), 446-8.
Barker KT, et al. Low Frequency of Somatic Mutations in the FH/multiple Cutaneous Leiomyomatosis Gene in Sporadic Leiomyosarcomas and Uterine Leiomyomas. Br J Cancer. 2002 Aug 12;87(4):446-8. PubMed PMID: 12177782.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Low frequency of somatic mutations in the FH/multiple cutaneous leiomyomatosis gene in sporadic leiomyosarcomas and uterine leiomyomas. AU - Barker,K T, AU - Bevan,S, AU - Wang,R, AU - Lu,Y-J, AU - Flanagan,A M, AU - Bridge,J A, AU - Fisher,C, AU - Finlayson,C J, AU - Shipley,J, AU - Houlston,R S, PY - 2002/04/09/received PY - 2002/06/10/revised PY - 2002/06/12/accepted PY - 2002/8/15/pubmed PY - 2002/9/12/medline PY - 2002/8/15/entrez SP - 446 EP - 8 JF - British journal of cancer JO - Br J Cancer VL - 87 IS - 4 N2 - 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 SN - 0007-0920 UR - https://www.unboundmedicine.com/medline/citation/12177782/Low_frequency_of_somatic_mutations_in_the_FH/multiple_cutaneous_leiomyomatosis_gene_in_sporadic_leiomyosarcomas_and_uterine_leiomyomas_ L2 - https://doi.org/10.1038/sj.bjc.660502 DB - PRIME DP - Unbound Medicine ER -