Human Mutation · 1998 · 46 citations · 5 references
Life SciencesGeneticsMolecular GeneticsCancer GeneticsMedical GeneticsMolecular OncologyCancer GenomicsGermline Cancer PredispositionGermline Cancer SusceptibilityGermline Variant InterpretationHereditary Cancer SyndromesPancreatic CancerFamilial Cancer SyndromesFamilial Pancreatic CancerGermline Cancer Predisposition SyndromesHereditary Cancer PedigreesHereditary Pancreatic CancerInherited Cancer Predisposition GenesSplice-site MutationsSplicing Mutations
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 affected 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 missense/splicing change has been shown to be linked to familial melanoma/pancreas cancer. Hum Mutat 12:70, 1998. © 1998 Wiley-Liss, Inc.
5
Germline p16 mutations in familial melanoma
Christopher J. Hussussian, Jeffery P. Struewing, Alisa M. Goldstein et al. · Nature Genetics · 1994 · 1.3K citations
Life Sciences, Genetics, Oncology +14
Germline mutations in the p16INK4a binding domain of CDK4 in familial melanoma
Lin Zuo, John Weger, Qingbei Yang et al. · Nature Genetics · 1996 · 811 citations