Novel germline p16(INK4) allele (Asp145Cys) in a family with multiple pancreatic carcinomas. Mutations in brief no. 148. Online.

C. A. Moskaluk, H. Hruban, A. Lietman, T. Smyrk, L. Fusaro, R. Fusaro, J. Lynch, C. J. Yeo, C. E. Jackson, H. T. Lynch, S. E. Kern

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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.

Original languageEnglish (US)
Number of pages1
JournalHuman mutation
Volume12
Issue number1
StatePublished - 1998
Externally publishedYes

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

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    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).