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2007 | 54 | 1 | 119-124
Article title

The CDKN2a common variants: 148 Ala/Thr and 500 C/G in 3' UTR, and their association with clinical course of melanoma

Content
Title variants
Languages of publication
EN
Abstracts
EN
Changes in CDKN2a gene are known to be linked with sporadic melanoma and hereditary predisposition to this cancer. In the Polish population mutations in the coding region of the CDKN2a gene are rather rare, therefore the attention has been focused on polymorphisms and alterations in uncoding regions such as 3' UTR. The aim of this study was to analyze two common polymorphisms, Ala148Thr and 500 C/G, and correlate them with the clinical course of melanoma. DNA from 285 patients was analyzed and found polymorphisms were correlated with the clinical parameters employing statistical methods. The obtained results allow us to conclude: (i) survival times of 500 C/G carriers vs. cumulating proportion surviving was not statistically significant; (ii) CDKN2a polymorphism 500 C/G correlated with Ala148Thr; (iii) no correlation was observed between the 500 C/G polymorphism and age of diagnosis, localization of primary melanoma and survival time; (iv) we did not find correlation between 500 C/G and type of cancer in the family; (v) changes in the CDKN2a gene were not found in patients with second cancer.
Publisher

Year
Volume
54
Issue
1
Pages
119-124
Physical description
Dates
published
2007
received
2006-10-09
revised
2006-12-18
accepted
2007-02-08
(unknown)
2007-03-09
Contributors
  • Department of Cancer Diagnostics and Immunology, Wielkopolska Cancer Center, Poznań, Poland
  • Department of Cancer Immunology, Chair of Medical Biotechnology, University of Medical Sciences, Poznań, Poland
author
  • The 2nd Department of Oncological Surgery, Wielkopolska Cancer Center, Poznań, Poland
  • Department of Cancer Diagnostics and Immunology, Wielkopolska Cancer Center, Poznań, Poland
References
  • Aitken J, Welch J, Duffy D et al. (1999) CDKN2A variants in a population-based sample of queensland families with melanoma. J Natl Cancer Inst 91: 446-452.
  • Debniak T, Górski B, Huzarski T et al. (2005a) A common variant of CDKN2A (p16) predisposes to breast cancer. J Med Genet 42: 763-765.
  • Debniak T, Scott RJ, Husarski T et al. (2005b) CDKN2A common variants and their association with melanoma risk: a population based study. Cancer Res 65: 835-839.
  • Eskandarpour M, Hashemi J, Kanter L, Ringborg U, Platz A, Hansson J (2003) Frequency of UV-inducible NRAS mutations in melanomas of patients with germline CDKN2A mutations. J Natl Cancer Inst 95: 790-798.
  • Goggins W, Gao W, Tsao H (2004) Association between female breast cancer and cutaneous melanoma. Int J Cancer 111: 792-794.
  • Górski B, Byrski T, Huzarski T et al. (2000) Founder mutations in BRCA1 gene in polish families with breast-ovarian cancer. Am J Hum Genet 66: 1963-1968.
  • Harland M, Taylor CF, Bass S et al. (2005) Intronic sequence variants of the CDKN2A gene in melanoma pedigree. Genes Chromosomes Cancer 43: 128-136.
  • Kumar R, Lundh Rozell B, Louhelainen J, Hemminki K (1998) Mutations in the CDKN2A (p16INK4a) gene in microdissected sporadic primary melanomas. Int J Cancer 75: 193-198.
  • Kumar R, Smeds J, Berggren P et al. (2001) A single nucleotide polymorphism in the 3' untranslated region of the CDKN2A gene is common in sporadic primary melanomas but mutations in the CDKN2B, CDKN2C, CDK4 and p53 genes are rare. Int J Cancer 95: 388-393.
  • Lamperska K, Karczewska A, Kwiatkowska E, Mackiewicz A (2002) Analysis of mutations in p16 CDKN2A gene in sporadic and familial melanoma in the Polish population. Acta Biochim Polon 49: 369-376.
  • Ranade K, Hussussian CJ, Sikorski RS et al. (1995) Mutations associated with familial melanoma impair p16INK4 function. Nat Genet 10: 114-116.
  • Reymond A, Brent R (1995) p16 proteins from melanoma-prone families are deficient in binding to Cdk4. Oncogene 11: 1173-1178.
  • Sauroja I, Smeds J, Vlaykova T et al. (2000) Analysis of G(1)/S checkpoint regulators in metastatic melanoma. Genes Chromosomes Cancer 28: 404-414.
Document Type
Publication order reference
Identifiers
YADDA identifier
bwmeta1.element.bwnjournal-article-abpv54p119kz
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