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1.
Sci Rep ; 11(1): 15369, 2021 07 28.
Artículo en Inglés | MEDLINE | ID: mdl-34321511

RESUMEN

The role of the long noncoding RNA CCAT1 NC_000008.10:g.128220661C > T (rs67085638) in the development of colon cancer has been reported. Therefore, we assessed the prevalence of rs67085638 in patients with gastric cancer (GC). We also evaluated the effect of rs67085638 on B-cell-specific Moloney leukaemia virus insertion site 1 (BMI1) transcripts in primary GC and counterpart histopathologically confirmed disease-free margin tissue. Using high-resolution melting analysis, we evaluated rs67085638 frequency in patients with the GC genotype (n = 214) and controls (n = 502) in a Polish Caucasian population. qRT-PCR was used to determine BMI1 transcripts. We observed the trend of rs67085638 association in all patients with GC (ptrend = 0.028), a strong risk of the GC genotype in male (ptrend = 0.035) but not female (ptrend = 0.747) patients, and the association with non-cardia GC (ptrend = 0.041), tumour stages T3 (ptrend = 0.014) and T4 (ptrend = 0.032), differentiation grading G3 (ptrend = 0.009), lymph node metastasis stage N3 (ptrend = 0.0005) and metastasis stage M0 (ptrend = 0.027). We found that significantly increased BMI1 transcripts were associated with the primary GC genotype classified as grade G3 (p = 0.011) and as lymph node metastasis N3 (p = 0.010) and counterpart marginal tissues (p = 0.026, p = 0.040, respectively) from carriers of the T/T versus C/C genotypes. rs67085638 may contribute to increased BMI1 transcripts and the progression and rapid growth of GC.


Asunto(s)
Predisposición Genética a la Enfermedad , Complejo Represivo Polycomb 1/genética , ARN Largo no Codificante/genética , Neoplasias Gástricas/genética , Adulto , Proliferación Celular/genética , Progresión de la Enfermedad , Femenino , Regulación Neoplásica de la Expresión Génica/genética , Genotipo , Humanos , Metástasis Linfática , Masculino , Persona de Mediana Edad , Polimorfismo de Nucleótido Simple/genética , Neoplasias Gástricas/patología
2.
Biology (Basel) ; 10(3)2021 Mar 19.
Artículo en Inglés | MEDLINE | ID: mdl-33808756

RESUMEN

INTRODUCTION: Epidemiological data indicate an increased incidence of testicular cancer (TC), making it the most common malignant tumor in men from aged 15-45. Oncological and urological associations recommend that men with specific TC risk factors should regularly perform a testicular self-exam (TSE). The aim of the study was to discover the attitudes among Polish males regarding TSE and factors (environmental, social, educational) that affect intention to perform TSE. METHODS: An original survey containing 21 questions was used to conduct a study among the Polish branch of VW (Volkswagen Poland) employees. RESULTS: A total of 522 fully completed questionnaires were collected. The mean age of the surveyed respondents was 32 years. Information about TC and how to perform TSE was obtained by 34.4% (n = 185) of the men. It was shown that the following factors increase men's intention to perform TSE: TC in their family member (p < 0.05; HR = 5.9; 95% CI: 1.5-23.0), GP's(General Practitioner) recommendations (p < 0.001; HR = 6.8; 95% CI: 3.2-14.3), concern expressed by their partner (p < 0.001; HR = 3.3; 95% CI: 2.1-5.3), and social campaigns (p < 0.001; HR = 2.6; 95% CI: 1.5-4.6). CONCLUSIONS: Approximately half of young polish males do not perform TSE. Access to information on TC prevention is limited. Further action is needed to improve men's awareness of TC and TSE.

3.
Gene ; 627: 524-529, 2017 Sep 05.
Artículo en Inglés | MEDLINE | ID: mdl-28694212

RESUMEN

We evaluated the role of NM_001024924.1:c.1330+1646C>T (rs13117307) single nucleotide polymorphism (SNP), situated in the intronic region of exocyst complex component 1 (EXCO1), in the development and spreading of cervical squamous cell carcinoma (SCC). Utilizing high resolution melting curve analysis, we analyzed this polymorphism in patients with cervical SCC (n=485) and controls (n=509) in the Polish Caucasian population. Logistic regression analysis was used to adjust for age, parity, oral contraceptive use, tobacco smoking, and menopausal status. The influence of this polymorphism on the expression of EXCO1 was assessed by reverse transcription and real-time quantitative PCR analysis. For all patients with SCC, the p trend value calculated for rs13117307 was statistically significant (ptrend=0.0158). The adjusted odds ratio (OR) for T/T vs. C/C was 1.434 (95 % CI 1.105-1.861, p=0.007). We also found a significant contribution of rs13117307 to tumor stages III, IV and grade of differentiation G3. Other contributors are parity, oral contraceptive use, smoking, and women of postmenopausal age. We observed significant upregulation of EXCO1 transcript levels in the non-cancerous cervical tissues in carriers of the T/T vs. C/C (p=0.016), as well as an increase in the EXCO1 transcript levels in the cervical SCC tissue in carriers of the T/T vs. C/C (p=0.029) and for T/T vs C/T (p=0.0032). The rs13117307 SNP variants may upregulate the transcription of EXCO1, as well as the risk of development and spreading of cervical SCC.


Asunto(s)
Carcinoma de Células Escamosas/genética , Polimorfismo de Nucleótido Simple , Neoplasias del Cuello Uterino/genética , Proteínas de Transporte Vesicular/genética , Adulto , Carcinoma de Células Escamosas/metabolismo , Carcinoma de Células Escamosas/patología , Femenino , Humanos , Intrones , Persona de Mediana Edad , Polonia , Regulación hacia Arriba , Neoplasias del Cuello Uterino/metabolismo , Neoplasias del Cuello Uterino/patología , Proteínas de Transporte Vesicular/metabolismo
4.
Fam Cancer ; 13(3): 415-21, 2014 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-24838934

RESUMEN

The CDH1 gene plays an important role during carcinogenesis and craniofacial morphogenesis. Germline mutations in this gene have been described in families presenting syndromic diffuse gastric cancer and orofacial clefts. The aim of this study was to evaluate the association between nucleotide variants of CDH1 and the risk of non-syndromic cleft lip with or without cleft palate (NSCL/P). Six single nucleotide polymorphisms (SNPs) of the CDH1 gene (rs16260, rs9929218, rs7186053, rs4783573, rs16958383, and rs1801552) were genotyped using the TaqMan SNP genotyping assays in 250 patients with NSCL/P and 540 controls from the Polish population. Comparison between patient and control groups showed that the CDH1 rs1801552 variant, under the assumption of recessive model, was associated with a two-fold decrease in the risk of NSCL/P (ORTT vs CT + CC = 0.481, 95 % CI 0.281-0.824, p = 0.007). This association remained statistically significant even after the multiple testing correction. No significant associations with NSCL/P risk were found for the other five tested SNPs. We found a strong association between the cancer predisposing gene CDH1 and the risk of NSCL/P in the Polish population. This result, together with previous observations of co-occurrence of orofacial clefts and a variety of cancer types, suggests the need for replication studies testing rs1801552 in NSCL/P cohorts with a known cancer history.


Asunto(s)
Encéfalo/anomalías , Cadherinas/genética , Labio Leporino/genética , Fisura del Paladar/genética , Adolescente , Antígenos CD , Niño , Preescolar , Femenino , Genotipo , Humanos , Lactante , Masculino , Polonia , Polimorfismo de Nucleótido Simple/genética , Factores de Riesgo
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