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Novel germline CDK4 mutations in patients with head and neck cancer

Maimoona Sabir1, Ruqia Mehmood Baig, Ishrat Mahjabeen

  • 1Cancer Genetics Lab, Department of Biosciences, COMSATS Institute of Information Technology, Park Road Chak shahzad, Islamabad, Pakistan. mkayani@comsats.edu.pk.

Hereditary Cancer in Clinical Practice
|August 31, 2012
PubMed
Abstract

Insights

Cyclin-dependent kinase 4 (CDK4) mutations were investigated in head and neck cancers. Novel mutations in CDK4 were identified, suggesting a role in cancer development.

Area of Science:

  • Oncology
  • Molecular Biology
  • Genetics

Background:

  • Cyclin-dependent kinase 4 (CDK4) and cyclin D1 regulate cell cycle progression.
  • The p16/CDK4/cyclin D1 complex is frequently deregulated in various human cancers.
  • CDK4 alterations are infrequently observed in tumors.

Purpose of the Study:

  • To screen for germline mutations in the coding regions of CDK4.
  • To investigate the role of CDK4 mutations in squamous cell carcinoma of the head and neck.

Main Methods:

  • PCR-SSCP and direct sequencing were employed for mutational screening of CDK4.
  • DNA was isolated from peripheral blood leukocytes of patients with head and neck squamous cell carcinoma.

Main Results:

  • Three missense mutations (Ser52Thr, Glu67Gln, Pro194Ser) and three novel frameshift mutations were identified in CDK4.
  • Mutations were observed in exon 2, exon 5, exon 7, and the 3'UTR of CDK4.
  • Two novel mutations were found in the N-terminal domain of CDK4.

Conclusions:

  • CDK4 mutations may play a significant role in the development and progression of head and neck squamous cell carcinoma.
  • The identified novel mutations provide further insight into CDK4's involvement in cancer.

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