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Impact of E27X, a novel CDKN2A germ line mutation, on p16 and p14ARF expression in Italian melanoma families displaying pancreatic cancer and neuroblastoma
- Publication Year :
- 2006
- Publisher :
- Oxford University Press, 2006.
-
Abstract
- Mutations in the CDKN2A gene underlie melanoma susceptibility in as many as 50% of melanoma kindreds in selected populations, and several CDKN2A founder mutations have been described. Inherited mutations in CDKN2A have been found to be associated with other, non-melanoma cancers including pancreatic cancer (PC) and neural system tumors (NST). Here we report a novel germline mutation in exon 1 of the CDKN2A gene, E27X, which we first detected in melanoma patients living in or originally from a small geographic area bordering Liguria in north-western Italy. A subset of melanoma kindreds positive for this mutation displayed PC and neuroblastoma. E27X generates a premature stop codon, leading to dramatically reduced protein levels of p16 and leaving p14ARF unaltered. As PC and NSTs have been postulated to be preferentially associated with CDKN2A mutations located in exon 2 and/or affecting p14ARF alone, the position of E27X in exon 1alpha provides interesting insights towards clarifying the mechanisms by which the CDKN2A/ARF locus is involved in cancer predisposition.
- Subjects :
- Adult
Male
Tumor suppressor gene
Genotype
Biology
Germline
Exon
Neuroblastoma
Germline mutation
p14arf
CDKN2A
Pancreatic cancer
Tumor Suppressor Protein p14ARF
Genetics
medicine
Humans
Point Mutation
neoplasms
Molecular Biology
Melanoma
Genetics (clinical)
Cyclin-Dependent Kinase Inhibitor p16
Germ-Line Mutation
Genes, p16
General Medicine
Exons
medicine.disease
Pedigree
Pancreatic Neoplasms
Haplotypes
Italy
Cancer research
Female
Subjects
Details
- Language :
- English
- Database :
- OpenAIRE
- Accession number :
- edsair.doi.dedup.....90f9958bccefd455161bf32e110dc8ee