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Objective: To investigate the mechanism and clinical value of zinc finger protein 492 (ZNF492) gene mutation in ovarian cancer, and to provide a theoretical basis for the diagnosis and treatment of ovarian cancer. Methods: The transcriptome data of ZNF492 mutant samples were downloaded by TCGA, and the samples were divided into two groups: ZNF492 mutant and non-mutant groups. The R package DESeq2 was used to analyze the differential genes between the two groups. The differentially expressed genes were analyzed by kyoto encyclopedia of genes and genomes (KEGG) pathway enrichment analysis and gene set enrichment analysis (GSEA). The age, tumor stage and differentiation of ovarian cancer patients were obtained, and the Nomogram model was constructed and evaluated by multivariate COX regression prediction model of ZNF492 expression and clinical characteristics of ovarian cancer patients. Results: There were 100 up -regulated genes and 971 down-regulated genes in the differential genes between the ZNF492 mutant group (n=377) and the non-mutant group (n=2). The pathway enrichment analysis of differential genes between the two groups and 100 up-regulated genes in the ZNF492 mutant group showed that they were enriched transforming growth factor -β (TGF -β) signal path. The results of multivariate COX regression prediction model showed that higher age (≥65 years old), the higher tumor stage (Ⅲ-Ⅳ stage) and differentiation (G3) might be related to the poor overall survival (HR>1), while high expression of ZNF492 (≥0.672) was related to the better prognosis (HR＜1), among which the higher age patients (≥65 years old) had a poor prognosis (P＜0.01). Based on the above four factors, further construct the Nomogram prediction model. The model validation results showed that the C index was 0.593, the area under the curve (AUC) (0.610 and 0.566) of three-year and five-year ROC curves, and the clinical decision curve analysis (DCA) suggested that patients can take bold measures when the 3-year or 5-year survival rate was greater than 18% and less than 82% . Conclusions: Mutated ZNF492 may affect the occurrence and development of ovarian cancer by regulating TGF -β pathway and anti -apoptosis potential mechanism, and has strong clinical practical value in predicting prognosis. ZNF492 mutation is expected to be a marker of circulating tumour DNA and therapeutic target for ovarian cancer. [ABSTRACT FROM AUTHOR]

The gene mutations of isocitrate dehydrogenase 1 and 2 (IDH1/2) mainly occur in astrocytoma, anaplastic astrocytoma, oligodendroglioma, anaplastic oligodendroglioma, oligoastrocytoma, anaplastic oligoastrocytoma and secondary glioblastoma. The IDH1/2 gene mutation can alter proteinase function, consume α-ketoglutarate and nicotinamide adenine dinucleotide phosphate-reduced (NADPH) and thus produce carcinogenic metabolite, 2-hydroxyglutarate. The intracellular accumulation of 2-hydroxyglutarate will induce a series of downstream effects which may result in the development of gliomas mentioned above. Both IDH1/2 mutations and other concomitant hereditary variations are biomarkers for differential diagnosis and IDH1/2 mutations are also independent factors for the prognosis of gliomas. The molecular targeting therapy for IDH1/2 mutations has become the research focus of glioma treatment. This review summarizes the recent progress of this field. DOI: 10.3969/j.issn.1672-6731.2015.11.017

Introducción. El cáncer de mama es un problema de salud pública a nivel mundial y en Santander es la primera causa de morbimortalidad por cáncer en mujeres. Todo cáncer se considera una enfermedad genética y las mutaciones en los genes BRCA confieren un riesgo de 60% a 80% para el cáncer de mama. Este estudio consistió en buscar las dos mutaciones BRCA1 más frecuentes según la base de datos Breast Cancer Core Information. Objetivo. Determinar la presencia de mutaciones específicas (185delAG, exón 2, y 5382insC, exón 20) en el gen BRCA1 en mujeres con cáncer de mama heredo-familiar, atendidas en los diferentes servicios de oncología de Bucaramanga, Colombia. Materiales y métodos. La muestra incluyó 30 pacientes, de las cuales se obtuvo un consentimiento informado, un cuestionario dirigido y sangre venosa para los estudios moleculares. El análisis molecular se realizó mediante PCR-mismatch, para introducir o eliminar sitios de restricción, y digestión enzimática (HinfI o DdeI). Resultados. No se detectaron dos de las mutaciones más frecuentes en el gen BRCA1 en las 30 pacientes estudiadas. Conclusión. Se requieren más estudios en la región que abarquen la tamización de la totalidad del gen BRCA1, para hacer una mayor contribución al conocimiento de la epidemiología molecular del cáncer de mama en Bucaramanga, Santander, Colombia.

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The risk of colorectal cancer associated with smoking is unclear and may be influenced by genetic variation in enzymes that metabolize cigarette carcinogens. The authors examined the colorectal cancer risk associated with smoking and 26 variants in carcinogen metabolism genes in 1,174 colorectal cancer cases and 1,293 population-based controls recruited in Canada by the Ontario Familial Colorectal Cancer Registry from 1997 to 2001. Adjusted odds ratios were calculated by multivariable logistic regression. Smoking for >27 years was associated with a statistically significant increased colorectal cancer risk (adjusted odds ratio (AOR) = 1.25, 95% confidence interval (CI): 1.02, 1.53) in all subjects. Colorectal cancer risk associated with smoking was higher in males for smoking status, duration, and intensity. The CYP1A1-3801-CC (AOR = 0.47, 95% CI: 0.23, 0.94) and CYP2C9-430-CT (AOR = 0.82, 95% CI: 0.68, 0.99) genotypes were associated with decreased risk, and the GSTM1-K173N-CG (AOR = 1.99, 95% CI: 1.21, 3.25) genotype was associated with an increased risk of colorectal cancer. Statistical interactions between smoking and genetic variants were assessed by comparing logistic regression models with and without a multiplicative interaction term. Significant interactions were observed between smoking status and SULT1A1-638 (P = 0.02), NAT2-857 (P = 0.01), and CYP1B1-4390 (P = 0.04) variants and between smoking duration and NAT1-1088 (P = 0.02), SULT1A1-638 (P = 0.04), and NAT1-acetylator (P = 0.03) status. These findings support the hypothesis that prolonged cigarette smoking is associated with increased risk of colorectal cancer and that this risk may be modified by variation in carcinogen metabolism genes. [ABSTRACT FROM PUBLISHER]

We present the case of a female patient with facial cutaneous lesions, a cobblestone-like pattern of the oral mucosa, and verruciform lesions on the hand since her youth. She reported a history of breast cancer, endometrial cancer, melanoma and multiple benign tumors and cysts. PTEN gene analysis was performed and confirmed Cowden Syndrome, a rare genodermatosis with an autosomal dominant pattern of inheritance, characterized by multiple hamartomas. The phosphatase and tensin homolog (PTEN) gene negatively regulates cell proliferation and cell cycle progression. Loss of PTEN function contributes to an increased risk of cancer. We emphasize the importance of early detection and accurate management of Cowden Syndrome.