Comprehensive analysis of <i>CDKN2A</i> (p16^INK4A/p14^ARF) and <i>CDKN2B</i> genes in 53 melanoma index cases considered to be at heightened risk of melanoma

Abstract

These data reinforce the hypothesis that ARF is a melanoma susceptibility gene and suggest that germline deletions specifically affecting p14ARF may not be solely responsible for NST susceptibility. Predisposition to CMM+NST could either be due to complete disruption of the CDKN2A locus or be the result of more complex genetic inheritance. In addition, the absence of any genetic alteration in 50 melanoma prone families or patients suggests the presence of additional tumour suppressor genes possibly in the 9p21 region, and on other chromosomes.