Novel germline p16(INK4) allele (Asp145Cys) in a family with multiple pancreatic carcinomas. Mutations in brief no. 148. Online |
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Authors: | 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 |
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Affiliation: | The Department of Pathology, The Johns Hopkins University School of Medicine, Baltimore, MD, USA. |
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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. |
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