title: From sporadic atypical nevi to familial melanoma: risk analysis for melanoma in sporadic atypical nevus patients.
abstract: BACKGROUND
  Atypical nevi (AN), present in either a familial or a sporadic setting, are strong indicators of increased melanoma risk.
  
  
  OBJECTIVE
  To estimate the extent of this risk and the extent of reclassification of sporadic to familial cases during follow-up.
  
  
  METHODS
  We studied 167 sporadic patients with AN (>or=5). At the end of follow-up we updated the family history regarding melanoma and performed germline mutation analysis of the known melanoma susceptibility genes.
  
  
  RESULTS
  We found a relative risk for melanoma of 46.1 (95% confidence interval 21.0-87.5). Six of 167 patients were carriers of a CDKN2A mutation. At the end of follow-up, 10 of 136 patients with sporadic AN reported being a member of a melanoma family.
  
  
  CONCLUSIONS
  This study was conducted in an area with a founder mutation in many of its melanoma families; therefore the results may not be applicable to other populations.
  
  
  CONCLUSIONS
  We report a high relative risk of 46.1 of melanoma development in patients with sporadic AN. A significant proportion of this Dutch cohort reported additional cases in their families over time.
authors.affiliation: Department of Human Genetics, Leiden University Medical Center, The Netherlands. desnoo@lumc.nl
authors.forename: Femke A
authors.initials: FA
authors.lastname: de Snoo
authors.forename: Marije W
authors.initials: MW
authors.lastname: Kroon
authors.forename: Wilma
authors.initials: W
authors.lastname: Bergman
authors.forename: Jeanet A C
authors.initials: JA
authors.lastname: ter Huurne
authors.forename: Jeanine J
authors.initials: JJ
authors.lastname: Houwing-Duistermaat
authors.forename: Leny
authors.initials: L
authors.lastname: van Mourik
authors.forename: Dyon G C T M
authors.initials: DG
authors.lastname: Snels
authors.forename: Martijn H
authors.initials: MH
authors.lastname: Breuning
authors.forename: Rein
authors.initials: R
authors.lastname: Willemze
authors.forename: Rune R
authors.initials: RR
authors.lastname: Frants
authors.forename: Nelleke A
authors.initials: NA
authors.lastname: Gruis
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D004252:DNA Mutational Analysis; D004416:Dysplastic Nevus Syndrome / Q000235:genetics*; D018095:Germ-Line Mutation; D006801:Humans; D008297:Male; D008545:Melanoma / Q000235:genetics*; D008875:Middle Aged; D018570:Risk Assessment; D012878:Skin Neoplasms / Q000235:genetics*