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      https://www.ias.ac.in/article/fulltext/jgen/096/01/0155-0160

    • Keywords

       

      MCIR; CDKN2A; variations; cutaneous melanoma; Cypriot.

    • Abstract

       

      The prevalence of genetic variants associated to cutaneous melanoma (CM) has never been determined within Cypriot melanomas. This study evaluates the frequency of variants in cyclin-dependent kinase inhibitor 2A (CDKN2A) andmelanocortin-1 receptor (MC1R) in 32 patients diagnosed with CM. Other characteristics and risk factors were also assessed. CDKN2A p.Ala148Thr was detected in three of 32 patients, while the control group revealed no variationswithin CDKN2A. MC1R screening in 32 patients revealed the following variations: p.Val60Leu in 11 patients, p.Arg142His in four patients, p.Thr314Thr in one patient, p.Arg160Trp in one patient, p.Val92Met/p.Thr314Thr in one patient andp.Val92Met/p.Arg142His/p.Thr314Thr in one patient. The control group revealed only p.Val60Leu (in 10 of 45 individuals), which is frequently found in general populations. Two unrelated patients carried CDKN2A p.Ala148Thr in combination with MC1R p.Arg142His, suggesting digenic inheritance that may provide evidence of different gene variants acting synergistically to contribute for CM development. This study confirms the presence of CDKN2A and MC1R variants among Cypriot melanomas and supports existing evidence of a role for these variants in susceptibility to melanoma.

    • Author Affiliations

       

      GEORGIA KOULERMOU1 CHRISTOS SHAMMAS2 3 ANDREAS VASSILIOU1 TASSOS C. KYRIAKIDES4 CONSTANTINA COSTI2 VASSOS NEOCLEOUS2 LEONIDAS A. PHYLACTOU2 MARIA PANTELIDOU5

      1. Department of Plastic Surgery and Burn Unit, Nicosia General Hospital, Nicosia 2029, Cyprus
      2. Department of Molecular Genetics Function and Therapy, The Cyprus Institute of Neurology and Genetics, Nicosia 1683, Cyprus
      3. Avva Pharmaceutical Ltd., 4001 Limassol, Cyprus
      4. Yale Center for Analytical Sciences, Yale University, New Haven CT06520, USA
      5. Department of Pharmacy and Department of Nursing, School of Health Sciences, Frederick University, Nicosia 1036, Cyprus
    • Dates

       
  • Journal of Genetics | News

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