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Identification of DLEC1 D215N Somatic Mutation in Formalin Fixed Paraffin Embedded Melanoma and Melanocytic Nevi Specimens
Joint Authors
Simões, Maria José
Carmona, Susana
Egas, Conceição
Figueiredo, Américo
Vieira, Ricardo
Faro, Carlos
Source
Issue
Vol. 2013, Issue 2013 (31 Dec. 2013), pp.1-4, 4 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2013-10-13
Country of Publication
Egypt
No. of Pages
4
Main Subjects
Abstract EN
DLEC1 has been suggested as a tumor suppressor gene in several cancers.
DLEC1 D215N somatic mutation (COSM36702) was identified in a melanoma cell line through whole genome sequencing.
However, little is known about the implication and prevalence of this mutation in primary melanomas or in melanocytic nevi.
The aim of this study was to genotype DLEC1 D215N mutation in melanoma tissue and melanocytic nevi samples to confirm its occurrence and to estimate its prevalence.
Primary melanomas (n=81) paired with synchronous or asynchronous metastases (n=21) from 81 melanoma patients and melanocytic nevi (n=28) were screened for DLEC1 D215N mutation.
We found the mutation in 3 primary melanomas and in 2 melanocytic nevi, corresponding to a relatively low prevalence (3.7% and 7.1%, resp.).
The pathogenic role of DLEC1 215N mutation is unclear.
However, since the mutation has not been previously described in general population, its involvement in nevogenesis and melanoma progression remains a possibility to be clarified in future studies.
American Psychological Association (APA)
Vieira, Ricardo& Simões, Maria José& Carmona, Susana& Egas, Conceição& Faro, Carlos& Figueiredo, Américo. 2013. Identification of DLEC1 D215N Somatic Mutation in Formalin Fixed Paraffin Embedded Melanoma and Melanocytic Nevi Specimens. Journal of Skin Cancer،Vol. 2013, no. 2013, pp.1-4.
https://search.emarefa.net/detail/BIM-474009
Modern Language Association (MLA)
Vieira, Ricardo…[et al.]. Identification of DLEC1 D215N Somatic Mutation in Formalin Fixed Paraffin Embedded Melanoma and Melanocytic Nevi Specimens. Journal of Skin Cancer No. 2013 (2013), pp.1-4.
https://search.emarefa.net/detail/BIM-474009
American Medical Association (AMA)
Vieira, Ricardo& Simões, Maria José& Carmona, Susana& Egas, Conceição& Faro, Carlos& Figueiredo, Américo. Identification of DLEC1 D215N Somatic Mutation in Formalin Fixed Paraffin Embedded Melanoma and Melanocytic Nevi Specimens. Journal of Skin Cancer. 2013. Vol. 2013, no. 2013, pp.1-4.
https://search.emarefa.net/detail/BIM-474009
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-474009