Mutation screening analysis of the retinoblastoma related gene RB2/p130 in sporadic ovarian cancer and head and neck squamous cell cancer. Mol Pathol 2002 Jun;55(3):153-5
Date
05/29/2002Pubmed ID
12032225Pubmed Central ID
PMC1187167DOI
10.1136/mp.55.3.153Scopus ID
2-s2.0-0036273649 (requires institutional sign-in at Scopus site) 11 CitationsAbstract
AIMS: 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.
Author List
Alvi AJ, Hogg R, Rader JS, Kuo MJ, Maher ER, Latif FAuthor
Janet Sue Rader MD Chair, Professor in the Obstetrics and Gynecology department at Medical College of WisconsinMESH terms used to index this publication - Major topics in bold
Carcinoma, Squamous CellDNA Mutational Analysis
DNA, Neoplasm
Female
Head and Neck Neoplasms
Humans
Mutation
Ovarian Neoplasms
Phosphoproteins
Polymerase Chain Reaction
Polymorphism, Single-Stranded Conformational
Proteins
Retinoblastoma Protein
Retinoblastoma-Like Protein p130