RESUMEN
OBJECTIVE: Perform genotyping of SNPs in the promoter region of the SMO gene in BCC samples from patients from northeastern Brazil, and to determine if there is an association of these SNPs of the gene in question with the susceptibility to the development of the BCC. METHODS: 100 samples of paraffined tissue from patients with histopathological diagnosis of BCC and 100 control samples were analyzed for each polymorphism by a newly developed genotyping method, the Dideoxy Single Allele Specific - PCR. The software Bioestat - version 5.3 and Haploview 4.2 were used for the statistical analysis. For all tests a P-value.
Asunto(s)
Carcinoma Basocelular/genética , Islas de CpG/genética , Metilación de ADN/genética , Polimorfismo de Nucleótido Simple/genética , Regiones Promotoras Genéticas/genética , Neoplasias Cutáneas/genética , Receptor Smoothened/genética , Alelos , Biomarcadores de Tumor/genética , Brasil , Predisposición Genética a la Enfermedad/genética , Humanos , Estudios RetrospectivosRESUMEN
Basal cell carcinoma - BCC is considered a multifactorial neoplasm involving genetic, epigenetic and environmental factors. Where UVB radiation is considered the main physical agent involved in BCC carcinogenesis. The Brazil and state of Paraíba are exposed to high levels of UVB rays. The mismatch repair - MMR is important DNA repair mechanisms to maintain replication fidelity. Therefore, single nucleotide polymorphisms (SNPs) in genes encoding proteins involved in MMR may be potential molecular markers of susceptibility to BCC. The objective of this study was to evaluate and describe for the first time the SNPs rs560246973, rs2303425 and rs565410865 and risk of developing BCC. The present study analyzed 100 samples of paraffin-embedded tissue from patients with histopathological diagnosis of BCC and 100 control samples. The results were obtained by genotyping method, Dideoxy Unique Allele Specific - PCR (DSASP). The SNPs rs2303425 were not associated with Basal Cell Carcinoma. However, the SNPs rs560246973 and rs565410865 was shown to be associated with the development of BCC when compared to control samples (P < 0.0001). The SNPs rs565410865 was also statistical significance between the genotypes of and the age group (p = 0.0027) and tumor location (p = 0,0191). The result suggests that SNPs rs2303425 and rs565410865 are associated with susceptibility to the development of BCC in the Brazilian population and may be considered as potential molecular markers for BCC.
Asunto(s)
Biomarcadores de Tumor/genética , Carcinoma Basocelular/genética , Homólogo 1 de la Proteína MutL/genética , Proteína 2 Homóloga a MutS/genética , Polimorfismo de Nucleótido Simple , Neoplasias Cutáneas/genética , Brasil/epidemiología , Carcinoma Basocelular/epidemiología , Carcinoma Basocelular/patología , Estudios de Casos y Controles , Predisposición Genética a la Enfermedad , Humanos , Pronóstico , Estudios Retrospectivos , Neoplasias Cutáneas/epidemiología , Neoplasias Cutáneas/patologíaRESUMEN
Basal cell carcinoma is the most common cancer, presenting low mortality but high morbidity, and it has as risk factor exposure to sunlight, especially UVB spectrum. The most important constitutional risk factors for basal cell carcinoma development are clear phototypes (I and II, Fitzpatrick classification), family history of basal cell carcinoma (30-60%), freckles in childhood, eyes and light hair. The environmental risk factor better established is exposure to ultraviolet radiation. However, different solar exposure scenarios probably are independent risk factors for certain clinical and histological types, topographies and prognosis of this tumor, and focus of controversy among researchers. Studies confirm that changes in cellular genes Hedgehog signaling pathway are associated with the development of basal cell carcinoma. The cellular Hedgehog signaling pathway is activated in organogenesis, but is altered in various types of tumors.
Asunto(s)
Carcinoma Basocelular/genética , Proteínas Hedgehog/fisiología , Neoplasias Cutáneas/genética , Proteínas Hedgehog/genética , HumanosRESUMEN
Abstract: Basal cell carcinoma is the most common cancer, presenting low mortality but high morbidity, and it has as risk factor exposure to sunlight, especially UVB spectrum. The most important constitutional risk factors for basal cell carcinoma development are clear phototypes (I and II, Fitzpatrick classification), family history of basal cell carcinoma (30-60%), freckles in childhood, eyes and light hair. The environmental risk factor better established is exposure to ultraviolet radiation. However, different solar exposure scenarios probably are independent risk factors for certain clinical and histological types, topographies and prognosis of this tumor, and focus of controversy among researchers. Studies confirm that changes in cellular genes Hedgehog signaling pathway are associated with the development of basal cell carcinoma. The cellular Hedgehog signaling pathway is activated in organogenesis, but is altered in various types of tumors.
Asunto(s)
Humanos , Neoplasias Cutáneas/genética , Carcinoma Basocelular/genética , Proteínas Hedgehog/fisiología , Proteínas Hedgehog/genéticaRESUMEN
Gastric cancer (GC) is a multifactorial disease with a high mortality rate in Brazil and worldwide. This work aimed to evaluate single nucleotide polymorphisms (SNP) rs1695, in the Glutathione S-Transferase Pi (GSTP1) gene in GC samples by comparative analysis Specific PCR - ASP and Dideoxy Single Allele-Specific PCR - DSASP methods. The DSASP is the proposed new method for allelic discrimination. This work analyzed 60 GC samples, 26 diffuse and 34 intestinal types. The SNP rs1695 of the GSTP1 gene was significantly associated with GC analyzed by DSASP method (χ2 = 9.7, P < 0.05). A comparative analysis of the data obtained from both methods did not differ significantly (χ2 = 0.08, P > 0.05). These results suggest that the SNP rs1695 of the GSTP1 gene was a risk factor associated with gastric carcinogens is and the DSASP method was a new successfully low-cost strategy to study allelic discrimination.
RESUMEN
Brazil is a country of continental dimensions with a large heterogeneity of climates and massive mixing of the population. Almost the entire national territory is located between the Equator and the Tropic of Capricorn, and the Earth axial tilt to the south certainly makes Brazil one of the countries of the world with greater extent of land in proximity to the sun. The Brazilian coastline, where most of its population lives, is more than 8,500 km long. Due to geographic characteristics and cultural trends, Brazilians are among the peoples with the highest annual exposure to the sun. Epidemiological data show a continuing increase in the incidence of non-melanoma and melanoma skin cancers. Photoprotection can be understood as a set of measures aimed at reducing sun exposure and at preventing the development of acute and chronic actinic damage. Due to the peculiarities of Brazilian territory and culture, it would not be advisable to replicate the concepts of photoprotection from other developed countries, places with completely different climates and populations. Thus the Brazilian Society of Dermatology has developed the Brazilian Consensus on Photoprotection, the first official document on photoprotection developed in Brazil for Brazilians, with recommendations on matters involving photoprotection.
Asunto(s)
Humanos , Protección Radiológica/métodos , Quemadura Solar/prevención & control , Protectores Solares/administración & dosificación , Enfermedades de la Piel/prevención & control , Neoplasias Cutáneas/prevención & control , Neoplasias Cutáneas/epidemiología , Energía Solar/estadística & datos numéricos , Quemadura Solar/epidemiología , Protectores Solares/química , Rayos Ultravioleta/efectos adversos , Vitamina D/metabolismo , Brasil/epidemiología , Vestuario , Exposición a Riesgos Ambientales , Radiación Electromagnética , Promoción de la Salud/métodos , Conceptos MeteorológicosRESUMEN
Brazil is a country of continental dimensions with a large heterogeneity of climates and massive mixing of the population. Almost the entire national territory is located between the Equator and the Tropic of Capricorn, and the Earth axial tilt to the south certainly makes Brazil one of the countries of the world with greater extent of land in proximity to the sun. The Brazilian coastline, where most of its population lives, is more than 8,500 km long. Due to geographic characteristics and cultural trends, Brazilians are among the peoples with the highest annual exposure to the sun. Epidemiological data show a continuing increase in the incidence of non-melanoma and melanoma skin cancers. Photoprotection can be understood as a set of measures aimed at reducing sun exposure and at preventing the development of acute and chronic actinic damage. Due to the peculiarities of Brazilian territory and culture, it would not be advisable to replicate the concepts of photoprotection from other developed countries, places with completely different climates and populations. Thus the Brazilian Society of Dermatology has developed the Brazilian Consensus on Photoprotection, the first official document on photoprotection developed in Brazil for Brazilians, with recommendations on matters involving photoprotection.
Asunto(s)
Protección Radiológica/métodos , Quemadura Solar/prevención & control , Protectores Solares/administración & dosificación , Brasil/epidemiología , Vestuario , Radiación Electromagnética , Exposición a Riesgos Ambientales , Promoción de la Salud/métodos , Humanos , Conceptos Meteorológicos , Enfermedades de la Piel/prevención & control , Neoplasias Cutáneas/epidemiología , Neoplasias Cutáneas/prevención & control , Energía Solar/estadística & datos numéricos , Quemadura Solar/epidemiología , Protectores Solares/química , Rayos Ultravioleta/efectos adversos , Vitamina D/metabolismoRESUMEN
Os autores apresentam imagens de dermatoscopia em uma fruta (manga-rosa), contaminada pela antracnose, mostrando sua semelhança com o melanoma extensivo superficial.
The authors present images from a dermatoscopy performed in a fruit (mango) that was contaminated by anthracnosis, showing its similarity to superficial spreading melanona.