1. Genome-wide linkage scan for atypical nevi in p16-Leiden melanoma families.
- Author
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de Snoo, Femke A., Hottenga, Jouke-Jan, Gillanders, Elizabeth M., Sandkuijl, Loudewijk A., Jones, Mary Pat, Bergman, Wilma, van der Drift, Clasine, van Leeuwen, Inge, van Mourik, Lenny, Huurne, Jeanet A. C. ter, Frants, Rune R., Willemze, Rein, Breuning, Martijn H., Trent, Jeffrey M., and Gruis, Nelleke A.
- Subjects
MELANOMA ,GENES ,PHENOTYPES ,HUMAN genome - Abstract
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.European Journal of Human Genetics (2008) 16, 1135–1141; doi:10.1038/ejhg.2008.72; published online 9 April 2008 [ABSTRACT FROM AUTHOR]
- Published
- 2008
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