Identification of DLEC1 D215N Somatic Mutation in Formalin Fixed Paraffin Embedded Melanoma and Melanocytic Nevi Specimens
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 melanocyt...
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| Format: | Article |
| Language: | English |
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Wiley
2013-01-01
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| Series: | Journal of Skin Cancer |
| Online Access: | http://dx.doi.org/10.1155/2013/469671 |
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| author | Ricardo Vieira Maria José Simões Susana Carmona Conceição Egas Carlos Faro Américo Figueiredo |
| author_facet | Ricardo Vieira Maria José Simões Susana Carmona Conceição Egas Carlos Faro Américo Figueiredo |
| author_sort | Ricardo Vieira |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-d37e06faae5f4583b01a1cd541c9ba08 |
| institution | Kabale University |
| issn | 2090-2905 2090-2913 |
| language | English |
| publishDate | 2013-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Journal of Skin Cancer |
| spelling | doaj-art-d37e06faae5f4583b01a1cd541c9ba082025-02-03T00:59:21ZengWileyJournal of Skin Cancer2090-29052090-29132013-01-01201310.1155/2013/469671469671Identification of DLEC1 D215N Somatic Mutation in Formalin Fixed Paraffin Embedded Melanoma and Melanocytic Nevi SpecimensRicardo Vieira0Maria José Simões1Susana Carmona2Conceição Egas3Carlos Faro4Américo Figueiredo5Serviço de Dermatologia, Centro Hospitalar e Universitário de Coimbra, Praceta Mota Pinto, 3000-375 Coimbra, PortugalUnidade de Serviços Avançados, Biocant, Parque Tecnológico de Cantanhede, Núcleo 04, Lote 3, 3060-197 Cantanhede, PortugalUnidade de Serviços Avançados, Biocant, Parque Tecnológico de Cantanhede, Núcleo 04, Lote 3, 3060-197 Cantanhede, PortugalUnidade de Serviços Avançados, Biocant, Parque Tecnológico de Cantanhede, Núcleo 04, Lote 3, 3060-197 Cantanhede, PortugalUnidade de Serviços Avançados, Biocant, Parque Tecnológico de Cantanhede, Núcleo 04, Lote 3, 3060-197 Cantanhede, PortugalServiço de Dermatologia, Centro Hospitalar e Universitário de Coimbra, Praceta Mota Pinto, 3000-375 Coimbra, PortugalDLEC1 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.http://dx.doi.org/10.1155/2013/469671 |
| spellingShingle | Ricardo Vieira Maria José Simões Susana Carmona Conceição Egas Carlos Faro Américo Figueiredo Identification of DLEC1 D215N Somatic Mutation in Formalin Fixed Paraffin Embedded Melanoma and Melanocytic Nevi Specimens Journal of Skin Cancer |
| title | Identification of DLEC1 D215N Somatic Mutation in Formalin Fixed Paraffin Embedded Melanoma and Melanocytic Nevi Specimens |
| title_full | Identification of DLEC1 D215N Somatic Mutation in Formalin Fixed Paraffin Embedded Melanoma and Melanocytic Nevi Specimens |
| title_fullStr | Identification of DLEC1 D215N Somatic Mutation in Formalin Fixed Paraffin Embedded Melanoma and Melanocytic Nevi Specimens |
| title_full_unstemmed | Identification of DLEC1 D215N Somatic Mutation in Formalin Fixed Paraffin Embedded Melanoma and Melanocytic Nevi Specimens |
| title_short | Identification of DLEC1 D215N Somatic Mutation in Formalin Fixed Paraffin Embedded Melanoma and Melanocytic Nevi Specimens |
| title_sort | identification of dlec1 d215n somatic mutation in formalin fixed paraffin embedded melanoma and melanocytic nevi specimens |
| url | http://dx.doi.org/10.1155/2013/469671 |
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