From sporadic atypical nevi to familial melanoma: risk analysis for melanoma in sporadic atypical nevus patients.
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.
de Snoo
Femke A
FA
Department of Human Genetics, Leiden University Medical Center, The Netherlands. desnoo@lumc.nl
Kroon
Marije W
MW
Bergman
Wilma
W
ter Huurne
Jeanet A C
JA
Houwing-Duistermaat
Jeanine J
JJ
van Mourik
Leny
L
Snels
Dyon G C T M
DG
Breuning
Martijn H
MH
Willemze
Rein
R
Frants
Rune R
RR
Gruis
Nelleke A
NA
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*