Novel germline p16INK4 allele (Asp145Cys) in a family with multiple pancreatic carcinomas
✍ Scribed by Christopher A. Moskaluk; Ralph H. Hruban; Amanda Lietman; Tom Smyrk; Lavonne Fusaro; Ramon Fusaro; Jane Lynch; Charles J. Yeo; Charles E. Jackson; Henry T. Lynch; Scott E. Kern
- Publisher
- John Wiley and Sons
- Year
- 1998
- Tongue
- English
- Weight
- 91 KB
- Volume
- 12
- Category
- Article
- ISSN
- 1059-7794
No coin nor oath required. For personal study only.
✦ Synopsis
As part of a search for causative genes of familial pancreatic carcinoma, the p16 (OMIM# 600160, CDKN2A; GDB: 335362) and CDK4 (OMIM# 123829, CDK4; GDB: 204022) 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.