Work

Novel germline p16INK4 allele (Asp145Cys) in a family with multiple pancreatic carcinomas

Year: 1998

Type: article

Abstract: 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.

Source: Human Mutation

DOI: 10.1002/(sici)1098-1004(1998)12:1<70::aid-humu12>3.0.co;2-j