Article

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

2002-08-01

Abstract excerpt

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 fu...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 86caba3f-3148-5326-a024-c06fee268a06
DOI: 10.1038/sj.bjc.6600502

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Low frequency of somatic mutations in the FH/multiple cutaneous leiomyomatosis gene in sporadic leiomyosarcomas and uterine leiomyomasDOI 10.1038/sj.bjc.6600502Read

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

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

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

Germline fumarate hydratase mutations and evidence for a founder mutation underlying multiple cutaneous and uterine leiomyomata.Semantic proximity Read

Germline Fumarate Hydratase Mutations in Families with Multiple Cutaneous and Uterine LeiomyomataSemantic proximity Read

Analysis of fumarate hydratase mutations in a population‐based series of early onset uterine leiomyosarcoma patientsSemantic proximity Read

Fumarate hydratase mutations and predisposition to cutaneous leiomyomas, uterine leiomyomas and renal cancer.Semantic proximity Read

Multiple cutaneous and uterine leiomyomata with features of benign metastasing leiomyomatosis: a novel mutation of the fumarate hydratase gene.Semantic proximity Read

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

Missense Mutations in Fumarate Hydratase in Multiple Cutaneous and Uterine Leiomyomatosis and Renal Cell CancerSemantic proximity Read

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

A novel missense mutation in fumarate hydratase in an Italian patient with a diffuse variant of cutaneous leiomyomatosis (Reed's syndrome).Semantic proximity Read