Novel germline p16(INK4) allele (Asp145Cys) in a family with multiple pancreatic carcinomas. Mutations in brief no. 148. Online.
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.
Moskaluk
C A
CA
The Department of Pathology, The Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Hruban
H
H
Lietman
A
A
Smyrk
T
T
Fusaro
L
L
Fusaro
R
R
Lynch
J
J
Yeo
C J
CJ
Jackson
C E
CE
Lynch
H T
HT
Kern
S E
SE
D000483:Alleles; D017398:Alternative Splicing / Q000235:genetics; D019943:Amino Acid Substitution; D001218:Aspartame; D002277:Carcinoma / Q000235:genetics; D003545:Cysteine; D020571:Genes, sis / Q000235:genetics*; D018095:Germ-Line Mutation / Q000235:genetics*; D006801:Humans; D020125:Mutation, Missense / Q000235:genetics; D010190:Pancreatic Neoplasms / Q000235:genetics
D003545:Cysteine; D001218:Aspartame