RESUMEN
Several genes have been associated with breast cancer (BC) susceptibility. The tumor necrosis factor receptor superfamily, member 1A (TNFRSF1A), and interferon lambda receptor 1 (IFNLR1) genes encode receptors that mediate the action of inflammatory cytokines. Previous studies have demonstrated the association of the variants rs1800693 (TNFRSF1A) and rs4649203 (IFNLR1) with some inflammatory diseases. The present study aimed to verify a possible association of these variants with BC, its clinical pathologic features, as well as epidemiological data in a Brazilian population. A total of 243 patients and 294 individuals without history of BC were genotyped for these polymorphisms through TaqMan® SNP genotyping assays by qPCR. For the TNFRSF1A gene, no significant results were found. For IFNLR1, the AA genotype (p = 0.008) and the A allele (p = 0.02) were significantly associated with a lower risk of developing BC. When analyzing the age, it was observed that each increase of one year contributes to the development of BC (p < 0.001). Also, the smoking habit (p < 0.001) and body mass index (p = 0.018) increase the risk of disease development. Analyzing progesterone receptor factor an association was found with the AA genotype of the IFNLR1 (p = 0.02). The findings suggest that polymorphism in the immune-related IFNLR1 gene contribute to BC susceptibility in a Brazilian population. These findings can contribute to the further understanding of the role this gene and pathways in BC development.
Asunto(s)
Biomarcadores de Tumor/genética , Neoplasias de la Mama/patología , Predisposición Genética a la Enfermedad , Polimorfismo de Nucleótido Simple , Receptores de Interferón/genética , Receptores Tipo I de Factores de Necrosis Tumoral/genética , Adulto , Anciano , Anciano de 80 o más Años , Brasil/epidemiología , Neoplasias de la Mama/epidemiología , Neoplasias de la Mama/genética , Estudios de Casos y Controles , Femenino , Estudios de Seguimiento , Regulación Neoplásica de la Expresión Génica , Genotipo , Humanos , Persona de Mediana Edad , Pronóstico , Factores de RiesgoRESUMEN
BACKGROUND: Each year, the number of breast cancer (BC) cases increases in Brazil and worldwide. In addition, BC affects women of working age who need to resume their jobs after treatments. This is an observational, cross-sectional study that investigated the association of physical symptoms and work tasks with upper limb disability and return to work in BC survivors. METHODS: Sociodemographic, labor, clinical and surgical aspects, and physical incapacity of the upper limbs of 62 women diagnosed with BC were evaluated through a questionnaire of our own and the disability of the arm, shoulder, and hand (DASH) questionnaire. The data were analyzed by the IBM Statistical Package for Social Sciences SPSS version 20.0 and a significance of p < 0.05 was adopted. Logistic regression and odds ratio were used to verify the level of association between work tasks and pain with return to work, and multiple linear regression verified the association of physical symptoms with upper limb functionality. RESULTS: The work tasks associated with non-return to work were raising objects above the head (OR 3.64, 95% CI 1.26-10.51), lifting objects of more than 5 kg (OR 2.88, 95% CI 1.02-8.13), and loading objects of more than 5 kg (OR 3.93; 95% CI 1.14-10.07). The pain in the upper quadrant homologous to the surgery explained 64% of the variance in physical incapacity of the upper limbs. CONCLUSIONS: There is an association of labor tasks that require upper limb strength and range of motion with non-return to work, and also pain in the upper quadrant homologous to the BC with reduction in the functionality of the upper limbs.
Asunto(s)
Neoplasias de la Mama/fisiopatología , Supervivientes de Cáncer/estadística & datos numéricos , Reinserción al Trabajo/estadística & datos numéricos , Adulto , Brasil/epidemiología , Neoplasias de la Mama/terapia , Dolor en Cáncer/fisiopatología , Estudios Transversales , Femenino , Humanos , Persona de Mediana Edad , Fuerza Muscular , Rango del Movimiento Articular , Perfil de Impacto de Enfermedad , Extremidad Superior/fisiopatologíaRESUMEN
Breast cancer (BC) is a complex disease and obesity is a well-known risk factor for its development, especially after menopause. Several studies have shown Single Nucleotide Polymorphisms (SNPs) linked to overweight and obesity, such as: rs1121980 (T/C) and rs9939609 (A/T) in Fat Mass and Obesity Associated gene (FTO) and rs17782313 (T/C) in Melanocortin 4 Receptor gene (MC4R). Thus, we aimed to investigate the association between these obesity-related SNPs and BC risk. One hundred BC patients and 148 healthy women from Santa Catarina, Brazil entered the study. SNPs were genotyped using Taqman assays. For statistical analyses SNPStats and SPSS softwares were used. Association analyses were performed by logistic regression and were adjusted for age and Body mass index (BMI). Multiple SNPs inheritance models (log-additive, dominant, recessive, codominant) were performed to determine odds ratios (ORs), assuming 95 % confidence interval (CI) and P value = 0.05 as the significance limit. When analyzed alone, FTO rs1121980 and rs9939609 did not show significant associations with BC development, however MC4R rs17782313 showed increased risk for BC even after adjustments (P-value = 0.032). Interestingly, the interaction of FTO and MC4R polymorphisms showed a powerful association with BC. We observed a 4.59-fold increased risk for woman who have the allele combination C/T/C (FTO rs1121980/FTO rs9939609/MC4R rs17782313) (P-value = 0.0011, adjusted for age and BMI). We found important and unpublished associations between these obesity-related genes and BC risk. These associations seem to be independent of their effect on BMI, indicating a direct role of the interaction between FTO and MC4R polymorphisms in BC development.
Asunto(s)
Neoplasias de la Mama/genética , Epistasis Genética , Estudios de Asociación Genética , Predisposición Genética a la Enfermedad , Obesidad/genética , Proteínas/genética , Receptor de Melanocortina Tipo 4/genética , Alelos , Dioxigenasa FTO Dependiente de Alfa-Cetoglutarato , Antropometría , Neoplasias de la Mama/patología , Estudios de Casos y Controles , Femenino , Frecuencia de los Genes/genética , Humanos , Menopausia , Polimorfismo de Nucleótido Simple/genética , Factores de Riesgo , Transducción de Señal/genéticaRESUMEN
O câncer de mama e a neoplasia maligna mais comum durante a gestação. Os autores relatam o caso de uma mulher de 33 anos com câncer de mama com metástase hepática e placentária diagnosticado durante o terceiro trimestre da gestação.
Breast cancer is the most common malignant neoplasm during pregnancy. The authors report the case of a 33-year-old woman with breast cancer with liver and placental metastasis diagnosed during the third trimester of pregnancy.