title: Novel germline p16(INK4) allele (Asp145Cys) in a family with multiple pancreatic carcinomas. Mutations in brief no. 148. Online.
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.
authors.affiliation: The Department of Pathology, The Johns Hopkins University School of Medicine, Baltimore, MD, USA.
authors.forename: C A
authors.initials: CA
authors.lastname: Moskaluk
authors.forename: H
authors.initials: H
authors.lastname: Hruban
authors.forename: A
authors.initials: A
authors.lastname: Lietman
authors.forename: T
authors.initials: T
authors.lastname: Smyrk
authors.forename: L
authors.initials: L
authors.lastname: Fusaro
authors.forename: R
authors.initials: R
authors.lastname: Fusaro
authors.forename: J
authors.initials: J
authors.lastname: Lynch
authors.forename: C J
authors.initials: CJ
authors.lastname: Yeo
authors.forename: C E
authors.initials: CE
authors.lastname: Jackson
authors.forename: H T
authors.initials: HT
authors.lastname: Lynch
authors.forename: S E
authors.initials: SE
authors.lastname: Kern
mesh_terms: 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
chemical_list: D003545:Cysteine; D001218:Aspartame