title: High incidence of somatic mitochondrial DNA mutations in human ovarian carcinomas.
abstract: To investigate the potential role of somatic mitochondrial DNA (mtDNA) mutations in tumorigenesis, the occurrence of mutations in mtDNA of ovarian carcinomas was studied. We sequenced the D-loop region of mtDNA of 15 primary ovarian carcinomas and their matched normal controls. Somatic mtDNA mutations were detected in 20% (3 of 15) tumor samples carrying single or multiple changes. Complete sequence analysis of the mtDNA genomes of another 10 pairs of primary ovarian carcinomas and control tissues revealed somatic mtDNA mutations in 60% (6 of 10) of tumor samples. Most of these mutations were homoplasmic, and most were T-->C or G-->A transitions, but one represented a differential length within a run of identical C residues. A region of mtDNA sequence including the 16S and 12S rRNA genes, the D-loop and the cytochrome b gene, may represent the zone of preferred mtDNA mutation in ovarian cancer. The high incidence of mtDNA mutations found in ovarian carcinomas and other human cancers suggests that genetic instability of mtDNA might play a significant role in tumorigenesis.
authors.affiliation: Department of Obstetrics and Gynecology, University of Hong Kong, Queen Mary Hospital, Hong Kong.
authors.forename: V W
authors.initials: VW
authors.lastname: Liu
authors.forename: H H
authors.initials: HH
authors.lastname: Shi
authors.forename: A N
authors.initials: AN
authors.lastname: Cheung
authors.forename: P M
authors.initials: PM
authors.lastname: Chiu
authors.forename: T W
authors.initials: TW
authors.lastname: Leung
authors.forename: P
authors.initials: P
authors.lastname: Nagley
authors.forename: L C
authors.initials: LC
authors.lastname: Wong
authors.forename: H Y
authors.initials: HY
authors.lastname: Ngan
mesh_terms: D004272:DNA, Mitochondrial / Q000097:blood / Q000235:genetics*; D004273:DNA, Neoplasm / Q000097:blood / Q000235:genetics; D005260:Female; D006801:Humans; D009154:Mutation; D010051:Ovarian Neoplasms / Q000235:genetics*; D011110:Polymorphism, Genetic; D012336:RNA, Ribosomal, 16S / Q000235:genetics
chemical_list: D004272:DNA, Mitochondrial; D004273:DNA, Neoplasm; D012336:RNA, Ribosomal, 16S