• p16;
  • MTS1;
  • CDK4;
  • pancreas cancer;
  • germline mutation


As part of a search for causative genes of familial pancreatic carcinoma, the p16 genes were sequenced in members of 21 families with a phenotype of familial pancreatic carcinoma (2 or more first degree relatives affected). One family was found in which affected members carried a novel p16 allele with a G to T transversion at position 451, creating a missense amino acid change at codon 145 (Asp to Cys) and possibly disrupting the donor splice site of the exon 2/3 boundary. This coding change is not a known polymorphism, and occurs at a codon position in which another missense/splicing change has been shown to be linked to familial melanoma/pancreas cancer. Hum Mutat 12:70, 1998. © 1998 Wiley-Liss, Inc.