title: Definition of a minimal region of deletion of chromosome 7 in uterine leiomyomas by tiling-path microarray CGH and mutation analysis of known genes in this region.
abstract: Somatic interstitial deletions of chromosome segment 7q22-q31 in uterine leiomyomas are a frequent event, thought to be indicative of a tumor suppressor gene in the region. Previous LOH and CGH studies have refined this region to 7q22.3-q31, although the target gene has not been identified. Here, we have used tiling-path resolution microarray CGH to further refine the region and to identify homozygous deletions in fibroids. Furthermore, we have screened all manually annotated genes in the region for mutations. We have refined the minimum deleted region at 7q22.3-q31 to 2.79 Mbp and identified a second region of deletion at 7q34. However, we identified no pathogenic coding variation.
authors.affiliation: Department of Medical Genetics, Biomedicum Helsinki, University of Helsinki, Helsinki, Finland.
authors.forename: Sakari
authors.initials: S
authors.lastname: Vanharanta
authors.forename: Noel C
authors.initials: NC
authors.lastname: Wortham
authors.forename: Cordelia
authors.initials: C
authors.lastname: Langford
authors.forename: Mona
authors.initials: M
authors.lastname: El-Bahrawy
authors.forename: Zephne
authors.initials: Z
authors.lastname: van der Spuy
authors.forename: Jari
authors.initials: J
authors.lastname: Sjöberg
authors.forename: Rainer
authors.initials: R
authors.lastname: Lehtonen
authors.forename: Auli
authors.initials: A
authors.lastname: Karhu
authors.forename: Ian P M
authors.initials: IP
authors.lastname: Tomlinson
authors.forename: Lauri A
authors.initials: LA
authors.lastname: Aaltonen
mesh_terms: D002874:Chromosome Mapping; D002897:Chromosomes, Human, Pair 7; D004249:DNA Damage; D004252:DNA Mutational Analysis; D004273:DNA, Neoplasm / Q000235:genetics; D005260:Female; D006801:Humans; D007044:Hysterectomy; D007889:Leiomyoma / Q000235:genetics* / Q000601:surgery; D009363:Neoplasm Proteins / Q000235:genetics; D009693:Nucleic Acid Hybridization; D020411:Oligonucleotide Array Sequence Analysis; D017384:Sequence Deletion; D014594:Uterine Neoplasms / Q000235:genetics* / Q000601:surgery
chemical_list: D004273:DNA, Neoplasm; D009363:Neoplasm Proteins