Document Detail

DKC1 gene mutations in human sporadic cancer.
MedLine Citation:
PMID:  23348390     Owner:  NLM     Status:  MEDLINE    
INTRODUCTION: Germline mutations in the tumour suppressor gene dyskeratosis congenit 1 (DKC1) cause the cancer prone syndrome called X-linked dyskeratosis congenita. The present study aims to determine whether mutations of the DKC1 gene may also be present in frequent human sporadic cancers (breast, colon and lung cancers), thus potentially contributing to the neoplastic phenotype.
MATERIALS AND METHODS: mutation analysis of the DKC1 gene was performed on DNA from 110 primary human lung, 54 breast, and 35 colon cancers, focusing on gene regions where pathogenic germline mutations have been described previously (promoter and exons 1, 3, 9, 10, 11, and 14).
RESULTS: Out of a total of 199 primary tumours of different origins, only 5 turned out to have sequence variations in the DKC1 gene. These variations were of two kinds, C8120T and C13554T, which are both classified as synonymous mutations and do not affect DKC1 mRNA splicing.
CONCLUSION: direct DKC1 gene mutations are not a frequent event in tumourigenesis, at least in the tumour types investigated and for the DKC1 gene portions considered in this study.
Marianna Penzo; Lucia Casoli; Claudio Ceccarelli; Davide Treré; Vienna Ludovini; Lucio Crinò; Lorenzo Montanaro
Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Histology and histopathology     Volume:  28     ISSN:  1699-5848     ISO Abbreviation:  Histol. Histopathol.     Publication Date:  2013 Mar 
Date Detail:
Created Date:  2013-01-25     Completed Date:  2013-07-11     Revised Date:  2014-06-12    
Medline Journal Info:
Nlm Unique ID:  8609357     Medline TA:  Histol Histopathol     Country:  Spain    
Other Details:
Languages:  eng     Pagination:  365-72     Citation Subset:  IM    
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MeSH Terms
Adenocarcinoma / genetics*,  metabolism,  pathology
Breast Neoplasms / genetics*,  metabolism,  pathology
Cell Cycle Proteins / genetics*
Colonic Neoplasms / genetics*,  metabolism,  pathology
DNA Mutational Analysis
DNA, Neoplasm / analysis
Germ-Line Mutation*
Lung Neoplasms / genetics*,  metabolism,  pathology
Nuclear Proteins / genetics*
Polymorphism, Single Nucleotide
RNA, Neoplasm / analysis
Grant Support
05-0342//Worldwide Cancer Research
Reg. No./Substance:
0/Cell Cycle Proteins; 0/DKC1 protein, human; 0/DNA, Neoplasm; 0/Nuclear Proteins; 0/RNA, Neoplasm

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