Genome-wide linkage scan for atypical nevi in p16-Leiden melanoma families

Femke A. de Snoo, Jouke Jan Hottenga, Elizabeth M. Gillanders, Loudewijk A. Sandkuijl, Mary Pat Jones, Wilma Bergman, Clasine van der Drift, Inge van Leeuwen, Lenny van Mourik, Jeanet A.C. ter Huurne, Rune R. Frants, Rein Willemze, Martijn H. Breuning, Jeffrey M. Trent, Nelleke A. Gruis

Research output: Contribution to journalArticlepeer-review

15 Scopus citations


In most Dutch melanoma families, a founder deletion in the melanoma susceptibility gene CDKN2A (which encodes p16) is present. This founder deletion (p16-Leiden) accounts for a significant proportion of the increased melanoma risk. However, it does not account for the Atypical Nevus (AN) phenotype that segregates in both p16-Leiden carriers and non-carriers. The AN-affected p16-Leiden family members are therefore a unique valuable resource for unraveling the genetic etiology of the AN phenotype, which is considered both a risk factor and a precursor lesion for melanoma. In this study, we performed a genome-wide scan for linkage in four p16-Leiden melanoma pedigrees, classifying family members with five or more AN as affected. The strongest evidence for an atypical nevus susceptibility gene was mapped to chromosome band 7q21.3 (two-point LOD score=2.751), a region containing candidate gene CDK6.

Original languageEnglish (US)
Pages (from-to)1135-1141
Number of pages7
JournalEuropean Journal of Human Genetics
Issue number9
StatePublished - 2008
Externally publishedYes

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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