Novel germline CDK4 mutations in patients with head and neck cancer

Hereditary Cancer in Clinical Practice

Mahmood Akhtar Kayani¹  Ishrat Mahjabeen¹  Ruqia Mehmood Baig¹  Maimoona Sabir¹ 

[1] Cancer Genetics Lab, Department of Biosciences, COMSATS Institute of Information Technology, Park Road Chak shahzad, Islamabad, Pakistan

关键词: Pakistani population;    squamous cell carcinoma of head and neck;    SSCP;    germ line mutations;    CDK4;   

Others  :  806357
DOI  :  10.1186/1897-4287-10-11

 received in 2012-03-13, accepted in 2012-08-13,  发布年份 2012

【 摘 要 】

Background

Cyclin-dependent kinase 4 (CDK4) together with its regulatory subunit cyclin D1, governs cell cycle progression through G₁ phase. Cyclin-dependent kinase inhibitors, including p16^INK4A in turn regulate CDK4. In particular, deregulation of the p16/CDK4/cyclin D1 complex has been established in a variety of human tumors including gliomas, sarcomas, melanoma, breast and colorectal cancer. However, changes in CDK4 have rarely been observed.

Method

In this study we used a combination of PCR-SSCP and direct sequencing for mutational screening of CDK4. DNA was isolated from peripheral blood leukocyte of patients with squamous cell carcinoma of head and neck, for screening germline mutations in coding regions of CDK4.

Results

Variations observed in exon 2 and 5 were three missense mutations, g5051G > C (Ser52Thr), g5095G > C (Glu67Gln), g5906C > A, g5907C > G (Pro194Ser) and novel frame shift mutations g7321_23delTGA, g7121_7122insG, g7143delG in exon 7 and 3′UTR respectively.

Conclusion

In conclusion, two novel mutations were found in N terminal domain which indicates that CDK4 mutation may play a major role in the development and progression of squamous cell carcinoma of head and neck.

【 授权许可】

   
2012 Sabir et al.; licensee BioMed Central Ltd.

【 图 表 】

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