title: The CDKN2A p.A148T variant is associated with cutaneous melanoma in Southern Brazil.
abstract: Several germline mutations and sequence variants in cancer predisposition genes have been described. Among these, the CDKN2A p.A148T variant appears to be frequent in patients with melanoma, at least in certain ethnic groups. In this case-control study, we evaluated 127 patients with cutaneous melanoma and 128 controls from Southern Brazil, the region with the highest melanoma incidence rates in the country. Using PCR-RFLP, we demonstrate that CDKN2A p.A148T variant was significantly more frequent in patients with melanoma than in controls (12.6% vs 3.9%; P=0.009). There was no association between presence of the polymorphism and tumor thickness, site of the primary tumor, melanoma subtype, age at diagnosis, quantitative and qualitative number of nevi. Patients with a positive family of history for other cancers were particularly prone to carry the CDKN2A p.A148T allele. All patients with p.A148T-positive melanoma reported European ancestry, especially German, and this was confirmed using a panel of ancestry-informative INDELs. Our data suggest that CDKN2A p.A148T is a melanoma susceptibility allele in Southern Brazil and is particularly common in patients with melanoma of predominantly European ancestry.
authors: Dermatology Service, Hospital de Clínicas de Porto Alegre (HCPA), Brazil.
authors: Renato M
authors: RM
authors: Bakos
authors: Robert
authors: R
authors: Besch
authors: Gabriela G
authors: GG
authors: Zoratto
authors: Janaína M
authors: JM
authors: Godinho
authors: Nicolle G
authors: NG
authors: Mazzotti
authors: Thomas
authors: T
authors: Ruzicka
authors: Lucio
authors: L
authors: Bakos
authors: Sidney E
authors: SE
authors: Santos
authors: Patricia
authors: P
authors: Ashton-Prolla
authors: Carola
authors: C
authors: Berking
authors: Roberto
authors: R
authors: Giugliani
mesh_terms: D019943:Amino Acid Substitution; D001483:Base Sequence; D001938:Brazil / Q000453:epidemiology; D016022:Case-Control Studies; D017931:DNA Primers / Q000235:genetics; D005006:Ethnicity / Q000235:genetics; D005060:Europe / Q000208:ethnology; D005260:Female; D005787:Gene Frequency; D019942:Genes, p16; D020022:Genetic Predisposition to Disease; D006801:Humans; D054643:INDEL Mutation; D008297:Male; D008545:Melanoma / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology; D008875:Middle Aged; D017720:Molecular Epidemiology; D020641:Polymorphism, Single Nucleotide; D011446:Prospective Studies; D012878:Skin Neoplasms / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology
chemical_list: D017931:DNA Primers