[From gene to disease; from p16 to melanoma].
Approximately 10% of human cutaneous melanoma cases occur in families with the familial atypical multiple mole melanoma (FAMMM) syndrome, which is characterised by the familial occurrence of melanomas and atypical precursor naevi. A melanoma-associated gene has been mapped to 9p2l, encoding for the tumour suppressor gene CDKN2A. Worldwide, germline mutations in melanoma kindreds implicate this cell cycle regulator (p16) as a susceptibility gene for malignant melanoma. Most FAMMM families registered at the Leiden Pigmented Lesions Clinic share the same CDKN2A inactivating deletion (P16-Leiden). Presymptomatic DNA diagnosis will now be available for P16-Leiden positive FAMMM family members at the Leiden University Medical Centre.
Gruis
N A
NA
Afd. Humane en Klinische Genetica, Leids Universitair Medisch Centrum, Leiden. gruis@lumc.nl
Bergman
W
W
D002455:Cell Division; D019941:Cyclin-Dependent Kinase Inhibitor p16 / Q000235:genetics*; D004416:Dysplastic Nevus Syndrome / Q000235:genetics*; D019942:Genes, p16 / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D006801:Humans; D008545:Melanoma / Q000235:genetics*; D009154:Mutation; D009426:Netherlands; D012878:Skin Neoplasms / Q000235:genetics*
D019941:Cyclin-Dependent Kinase Inhibitor p16