Genetic Variations in XRCC1 Gene in Sporadic Head and Neck Cancer (HNC) Patients

DNA repair gene polymorphisms have been implicated as susceptibility factors in cancer development. It is possible that DNA repair polymorphisms may also influence the risk of gene mutation. Polymorphisms in the DNA repair gene XRCC1 have been indicated to have a contributive role in DNA adduct form...

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Veröffentlicht in:Pathology oncology research 2013-04, Vol.19 (2), p.183-188
Hauptverfasser: Mahjabeen, Ishrat, Baig, Ruqia Mehmood, Masood, Nosheen, Sabir, Maimoona, Inayat, Uzma, Malik, Faraz Arshad, Kayani, Mahmood Akhtar
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Sprache:eng
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Zusammenfassung:DNA repair gene polymorphisms have been implicated as susceptibility factors in cancer development. It is possible that DNA repair polymorphisms may also influence the risk of gene mutation. Polymorphisms in the DNA repair gene XRCC1 have been indicated to have a contributive role in DNA adduct formation and an increased risk of cancer development. 300 head and neck cancer patients and 150 controls were included in this study. PCR-single-strand conformation polymorphism and DNA sequencing were used to analyze the whole exonic region of XRCC1 in head and neck cancer patients. Sequence analysis revealed two missense and two silent mutations in our study. Frequency of silent mutations; Pro206Pro (rs915927) and Gln632Gln (rs3547) was calculated as 0.16 (16 %) and 0.30 (30 %) respectively. Whereas, the frequency of missense mutations; Arg399Gln (rs25487) and Tyr576Asn (rs2307177) was calculated as 0.27 (27 %) and 0.28 (28 %) respectively. In our study, incidence of these mutations was found higher in larynx cancer ( p  
ISSN:1219-4956
1532-2807
DOI:10.1007/s12253-012-9567-z