Publication: DKC1 gene mutations in human sporadic cancer
Authors
Penzo, Marianna ; Casoli, Lucia ; Ceccarelli, Claudio ; Treré, Davide ; Ludovini, Vienna ; Crinò, Lucio ; Montanaro, Lorenzo
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Publisher
F. Hernández y Juan F. Madrid. Universidad de Murcia. Departamento de Biología Celular e Histología
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DOI
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info:eu-repo/semantics/article
Description
Abstract
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.
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Citation
Histology and histopathology, Vol. 28, n.º 3 (2013)
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