HISTOLOGY AND HISTOPATHOLOGY

Cellular and Molecular Biology

 

DKC1 gene mutations in human sporadic cancer

Marianna Penzo1, Lucia Casoli1, Claudio Ceccarelli2, Davide Treré1, Vienna Ludovini3, Lucio Crinò3 and Lorenzo Montanaro1

1Department of Experimental Pathology, Alma Mater Studiorum, University of Bologna, Bologna, Italy, 2Department of Radiological and Histocytopathological Clinical Sciences, Alma Mater Studiorum, University of Bologna, Bologna, Italy and 3Department of Medical Oncology, S. Maria della Misericordia S. Andrea delle Fratte Hospital, Perugia, Italy .

Offprint requests to: Dr. Lorenzo Montanaro, Department of Experimental Pathology, Alma Mater Studiorum, University of Bologna, via San Giacomo 14, Bologna, I-40126, Italy. e-mail: lorenzo.montanaro@unibo.it


Summary. 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
. Histol Histopathol 28, 365-372 (2013)

Key words: DKC1, DNA mutations, Breast cancer, Lung cancer, Colon cancer

DOI: 10.14670/HH-28.365