title: High prevalence of germline CDKN2A mutations in Slovenian cutaneous malignant melanoma families.
abstract: OBJECTIVE
  To prospectively determine the prevalence of germline CDKN2A mutations in the Slovenian cutaneous malignant melanoma (CMM) families.
  
  
  METHODS
  From January 2001 till the end of 2003 we prospectively screened 19 individuals from 11 CMM families, as well as 3 children with CMM aged from 6 to 13 years, with a negative family history.
  
  
  RESULTS
  Five distinct mutations were detected in 5 out of 11 screened families (10/19 individuals) and a previously recognized polymorphism was detected in a single family. Detected mutations were functionally deleterious (T281A, G68A, G301T, G71C and IVS - 1g>a). No mutations could be detected in 3 children.
  
  
  CONCLUSIONS
  The prevalence of CDKN2A mutations among Slovenian CMM families was high, indicating the need for genetic counseling.
authors.affiliation: Institute of Oncology, Ljubljana, Slovenia. mhocevar@onko-i.si
authors.forename: Marko
authors.initials: M
authors.lastname: Hocevar
authors.forename: Magdalena
authors.initials: M
authors.lastname: Avbelj
authors.forename: Barbara
authors.initials: B
authors.lastname: Perić
authors.forename: Janez
authors.initials: J
authors.lastname: Zgajnar
authors.forename: Nikola
authors.initials: N
authors.lastname: Besić
authors.forename: Tadej
authors.initials: T
authors.lastname: Battelino
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D005260:Female; D019942:Genes, p16; D018095:Germ-Line Mutation; D006801:Humans; D008297:Male; D008545:Melanoma / Q000235:genetics*; D008875:Middle Aged; D011110:Polymorphism, Genetic; D011446:Prospective Studies; D012878:Skin Neoplasms / Q000235:genetics*; D017524:Slovenia