title: Mutation screening analysis of the retinoblastoma related gene RB2/p130 in sporadic ovarian cancer and head and neck squamous cell cancer.
abstract: OBJECTIVE
  To investigate the involvement of the RB2/p130 gene in the pathogenesis of sporadic ovarian cancer in addition to head and neck squamous cell carcinoma (HNSCC).
  
  
  METHODS
  Paired tumour and patient matched normal DNA samples from 43 sporadic ovarian tumours and 39 normal/tumour HNSCC DNA samples were screened. The mutation screen used polymerase chain reaction (PCR) amplification followed by single strand conformation polymorphism analysis and direct sequencing of the PCR products. Exons 19 and 20 (B domain) and exons 21 and 22 (C-terminus) were analysed for mutations. These exons were chosen because most of the point mutations in RB2/p130 are located in the C-terminal region and mutations in these exons have been identified previously in nasopharyngeal carcinomas and primary lung tumours.
  
  
  RESULTS
  No abnormal band shifts were seen in the samples analysed, and no bands directly sequenced revealed the presence of mutations.
  
  
  CONCLUSIONS
  Genetic alterations in the RB2/p130 gene (exons 19-22) are unlikely to be involved directly in the pathogenesis of sporadic ovarian cancer or HNSCC.
authors.affiliation: Section of Medical and Molecular Genetics, Department of Paediatrics and Child Health, University of Birmingham, Birmingham B15 2TT, UK.
authors.forename: A J
authors.initials: AJ
authors.lastname: Alvi
authors.forename: R
authors.initials: R
authors.lastname: Hogg
authors.forename: J S
authors.initials: JS
authors.lastname: Rader
authors.forename: M J
authors.initials: MJ
authors.lastname: Kuo
authors.forename: E R
authors.initials: ER
authors.lastname: Maher
authors.forename: F
authors.initials: F
authors.lastname: Latif
mesh_terms: D002294:Carcinoma, Squamous Cell / Q000235:genetics*; D004252:DNA Mutational Analysis; D004273:DNA, Neoplasm / Q000235:genetics; D005260:Female; D006258:Head and Neck Neoplasms / Q000235:genetics*; D006801:Humans; D009154:Mutation; D010051:Ovarian Neoplasms / Q000235:genetics*; D010750:Phosphoproteins / Q000235:genetics*; D016133:Polymerase Chain Reaction / Q000379:methods; D018807:Polymorphism, Single-Stranded Conformational; D011506:Proteins; D016160:Retinoblastoma Protein / Q000235:genetics; D050717:Retinoblastoma-Like Protein p130
chemical_list: D004273:DNA, Neoplasm; D010750:Phosphoproteins; D011506:Proteins; C493837:RBL2 protein, human; D016160:Retinoblastoma Protein; D050717:Retinoblastoma-Like Protein p130