Novel germline p16(INK4) allele (Asp145Cys) in a family with multiple pancreatic carcinomas. Mutations in brief no. 148. Online.
Publication/Presentation Date
1-1-1998
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 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 missese/splicing change has been shown to be linked to familial melanoma/pancreas cancer.
Volume
12
Issue
1
First Page
70
Last Page
70
ISSN
1059-7794
Published In/Presented At
Moskaluk, C. A., Hruban, H., Lietman, A., Smyrk, T., Fusaro, L., Fusaro, R., Lynch, J., Yeo, C. J., Jackson, C. E., Lynch, H. T., & Kern, S. E. (1998). Novel germline p16(INK4) allele (Asp145Cys) in a family with multiple pancreatic carcinomas. Mutations in brief no. 148. Online. Human mutation, 12(1), 70. https://doi.org/10.1002/(SICI)1098-1004(1998)12:1<70::AID-HUMU13>3.0.CO;2-G
Disciplines
Business Administration, Management, and Operations | Health and Medical Administration | Management Sciences and Quantitative Methods
PubMedID
10627132
Department(s)
Administration and Leadership
Document Type
Article