title: The CDKN2a common variants: 148 Ala/Thr and 500 C/G in 3' UTR, and their association with clinical course of melanoma.
abstract: 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.
authors.affiliation: Department of Cancer Diagnostics and Immunology, Wielkopolska Cancer Center, Poznań, Poland. kasialam@o2.pl
authors.forename: Katarzyna Monika
authors.initials: KM
authors.lastname: Lamperska
authors.forename: Anna
authors.initials: A
authors.lastname: Przybyła
authors.forename: Witold
authors.initials: W
authors.lastname: Kycler
authors.forename: Andrzej
authors.initials: A
authors.lastname: Mackiewicz
mesh_terms: D020413:3' Untranslated Regions / Q000235:genetics*; D000328:Adult; D000368:Aged; D000409:Alanine; D019943:Amino Acid Substitution; D019941:Cyclin-Dependent Kinase Inhibitor p16 / Q000235:genetics*; D004273:DNA, Neoplasm / Q000235:genetics / Q000302:isolation & purification; D005260:Female; D015972:Gene Expression Regulation, Neoplastic; D014644:Genetic Variation; D006801:Humans; D008297:Male; D008545:Melanoma / Q000235:genetics* / Q000401:mortality / Q000503:physiopathology; D008875:Middle Aged; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D020641:Polymorphism, Single Nucleotide; D018807:Polymorphism, Single-Stranded Conformational; D012878:Skin Neoplasms / Q000235:genetics / Q000401:mortality / Q000503:physiopathology; D016019:Survival Analysis; D017741:Survivors; D013912:Threonine
chemical_list: D020413:3' Untranslated Regions; D019941:Cyclin-Dependent Kinase Inhibitor p16; D004273:DNA, Neoplasm; D013912:Threonine; D000409:Alanine