Ontology highlight
ABSTRACT:
SUBMITTER: Barker KT
PROVIDER: S-EPMC2376129 | biostudies-literature | 2002 Aug
REPOSITORIES: biostudies-literature
British journal of cancer 20020801 4
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 ...[more]