Document Detail

Genetic and expressional variations of APEX1 are associated with increased risk of head and neck cancer.
MedLine Citation:
PMID:  23408843     Owner:  NLM     Status:  In-Data-Review    
The aetiology of head and neck cancer (HNC) has been shown to be associated with genetic and certain environmental factors that produce DNA damage. Base excision repair (BER) genes are responsible for repair of DNA damage caused by reactive oxygen species and other electrophiles and therefore are good candidate susceptibility genes for HNC. Apurinic/apyrimidinic endonuclease-1 (APEX1) proteins have important functions in the BER pathway. In this case-control study, all exons of the APEX1 gene and its exon/intron boundaries were amplified in 300 HNC cases and 300 matched healthy controls and then analysed by single-stranded conformational polymorphism. Amplified products showing altered mobility patterns were sequenced and analysed. To confirm our observations, we examined APEX1 expression at mRNA level on 50 head and neck squamous cell carcinoma (HNSCC) and 50 normal control samples by quantitative real-time polymerase chain reaction. At germ line level, three novel mutations (13T > G, Ser129Arg and Val131Gly) of APEX1 were observed. The homozygous and heterozygous genotypes of APEX1 13T > G, Ser129Arg and Val131Gly appear to be significantly involved in the development of HNC. In the case of expressional level, APEX1 mRNA expression was positively correlated with tumour size, clinical stage and positive lymph node metastasis. Statistical analysis showed a significantly higher APEX1 mRNA level in HNC tumour tissue than in control samples. Our study demonstrated that APEX1 mutations and deregulation of APEX1 are associated with increased risk of HNC in the Pakistani population.
Ishrat Mahjabeen; Ruqia Mehmood Baig; Maimoona Sabir; Mahmood Akhtar Kayani
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Mutagenesis     Volume:  28     ISSN:  1464-3804     ISO Abbreviation:  Mutagenesis     Publication Date:  2013 Mar 
Date Detail:
Created Date:  2013-02-14     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  8707812     Medline TA:  Mutagenesis     Country:  England    
Other Details:
Languages:  eng     Pagination:  213-8     Citation Subset:  IM    
Cancer Genetics Lab, Department of Biosciences, COMSATS Institute of Information Technology, Park Road Chak shazad, Islamabad, Pakistan.
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