Objective To investigate the relationship between the expressions of mismatch repair （MMR） genes （include hMLH1 and hMSH2） and clinicopathological features and prognosis of hereditary nonpolyposis colorectal cancer （HNPCC）. Methods Immunohistochemistry method （Elivision-two step） was used to test expressions of hMLH1 and hMSH2 proteins （both hMLH1 and hMSH2 protein-positive delimited as MMR protein-positive） in 48 patients with HNPCCaccording to revised Bethesda guidelines， and analyzed the relationship between the expression of MMR protein and clinicopathological features and prognosis of HNPCC. Results Loss rate of hMLH1 protein （20.83%，10/48） was signi-ficantly higher than that of hMSH2 protein （8.33%，4/48）， Ρ＜0.05， and positive expression rate of MMR protein was 70.83% （34/48）. Expression of MMR protein was related with tumor infiltration depth （Ρ＜0.05）. Survival rate of patients with expression and without expression of MMR protein was 85.29% （29/34） and 85.71% （12/14）， respectively， the survival curves of them didn’t significantly differed from each other （Ρ＞0.05）. Conclusions Loss rate of hMLH1 protein is higher than that of hMSH2 protein. Expre ssions of hMLH1 and hMSH2 protein are related with tumor infiltration depth， but not related with prognosis.
Objective To review the advance of gene diagnosis and gene therapy on gastric cancer. Methods Literatures about the advance of gene diagnosis and therapy on gastric cancer were reviewed. Results Detection of tumor marker by gene technique is important for early diagnosis, follow-up and therapy evaluation of gastric cancer in clinic. But there are still many problems in gene therapy of gastric cancer. Conclusion Gene detection and gene therapy will become important supplementary means for diagnosis and treatment of gastric cancer.
【Abstract】ObjectiveTo review recent studies on Muir-Torre syndrome (MTS) and to improve the knowledge about MTS.MethodsThe literatures in recent years on clinic and gene research of MTS were reviewed.ResultsMTS was is a rare autosomal-dominant disorder characterized by the predisposition to both sebaceous tumors (or multiple keratoacanthomas) and internal malignancies. Gastrointestinal cancers were the most common kind of internal malignancies in MTS patients(61%)，followed by genitourinary cancers(22%). In most cases(56%)，sebaceous tumors appeared after the emergence of internal maliganancy. Both hereditary nonpolyposis colorectal cancer(HNPCC) and MTS were caused by germline mutations in the DNA mismatch repair genes. MTS patients exhibit significantly more mutations in the hMSH2 than in the hMLH1. In these cases , both internal and skin tumors showed the characteristic of high microsatellite instability(MSI).ConclusionThe presence of sebaceous tumors(or multiple keratoacanthomas) necessitates the search for internal malignancies. It is mandatory that patients with MTS, as patients with HNPCC, should be regularly followed up to search new malignancies. Evaluation and monitoring of the family members of patients are also necessary. The patients and their families should be counseled for genetic test. Sequencing the hMSH2 gene should be the prior selection of further examinations when clinical manifestations, history and laboratory tests suggest MTS.
目的探讨DNA损伤修复基因XRCC1 Arg194Trp位点多态性与结直肠癌易感性的关系。 方法选取120例结直肠癌患者与120例正常对照者进行对比研究。取外周血提取DNA，采用限制性片段长度多态性聚合酶链反应（PCR-RFLP）技术对XRCC1 Arg194Trp基因多态性进行检测分析，比较不同基因型与结直肠癌易感性的关系。 结果2组观察对象在年龄、性别、吸烟、饮酒、饮食特点等常见暴露因素方面的差异均无统计学意义（P＞0.05），变异基因型Arg/Trp＋Trp/Trp出现频率在2组观察对象中分别为30.00%和24.17%，差异无统计学意义（P＞0.05）。 结论XRCC1 Arg194Trp位点多态性与结直肠癌的易感性并无显著相关性。
ObjectiveTo investigate the correlation of X-ray repair cross-complementing gene 1 (XRCC1-Arg399Gln, Arg280His, and Arg194Trp) polymorphisms and susceptibility to gastric cancer. MethodsOne hundred and twenty patients with gastric cancer were included in study group, 120 healthy volunteers were included in control group. The DNA was extracted from peripheral blood. Arg399Gln, Arg280His, and Arg194Trp gene polymorphisms were detected and analyzed using polymerase chain reaction-restriction fragment length polymorphism technique, and the susceptibility between different genotypes and gastric cancer was compared in two groups. ResultsThe age, gender, smoking, drinking, diet, and other common characteristics of exposure factors had no significant differences in two groups (P > 0.05). The mutation locus genotype frequencies of Arg399Gln and Arg280His had no significant differences between two groups (P > 0.05). However, the mutation locus genotype frequencies of Arg/Trp, Trp/Trp, and Arg/Trp+Trp/Trp were higher and the mutation locus genotype frequency of Arg/Arg was lower in the study group as compared with the control group (P < 0.05). ConclusionThe preliminary results from this study shows that XRCC1 Arg399Gln and Arg280His polymorphisms are not correlated with susceptibility to gastric cancer; However, Arg194Trp polymorphism is correlated with susceptibility to gastric cancer.
ObjectiveTo detect the expression of hMLH1, hMSH2 or hMSH6 protein in sporadic colorectal carcinoma (SCRC) and analyze the relationship of its expression to clinicopathologic parameters of patients with SCRC. MethodsTwo hundred and sixty-three patients with SCRC were studied, who underwent surgery in the Department of General Surgery, the Air Force General Hospital; and the Department of Colorectal Surgery, Beijing Cancer Hospital from March 2008 to March 2012. All the patients were diagnosed by histological examination without chemoradiotherapy before operation. Immunohistochemistry was used to detect the hMLH1, hMSH2 or hMSH6 protein expression in the tumor tissues from 263 cases of SCRC. The relationship of its expression to clinicopathologic parameters was analyzed. ResultsThe loss rates of hMLH1, hMSH2, and hMSH6 expressions in the tumor tissues from 263 patients with SCRC were 13.3% (35/263), 12.2% (32/263), and 28.9% (76/263), respectively. The loss rates of hMLH1/hMSH2, hMLH1/ hMSH6, hMSH2/hMSH6, and hMLH1/hMSH2/hMSH6 expressions were 3.4% (9/263), 10.2% (27/263), 6.8% (18/263), and 3.4% (9/263) corresponding. The loss rate of hMLH1 expression in the high differentiated adenocarcinoma tissues was significantly higher than that of the moderate to low differentiated adenocarcinoma or mucous carcinomas tissues (P < 0.01). The loss rate of hMLH2 expression in the tissues of tumor size more than 5 cm was significantly higher than that in the tissues of tumor size less than 5 cm (P < 0.05). The loss rate of hMSH6 expression in the male patient was significantly higher than that of the female patient (P < 0.01) and which in the tumor tissues of less lymph node metastasis was significantly higher than that in the tissues of the more lymph node metastasis (P < 0.01). ConclusionsThe hMLH1, hMSH2, or hMSH6 gene expression deletion is common in SCRC and the relation with the clinical pathology of SCRC is obviously different from Lynch syndrome. Therefore, the effects of hMLH1, hMSH2, and hMSH6 expressions on the development, invasion, and metastasis of SCRC are different from Lynch syndrome too.
ObjectiveTo explore the association between single nucleotide polymorphism (SNP) in the X-ray cross complementary repair gene-1 (XRCC1) rs1799782 locus and thyroid cancer.MethodsStudies investigating the association between SNP in the XRCC1 gene and thyroid cancer susceptibility were retrieved from the PubMed, Embase, Web of Science, CNKI (Chinese National Knowledge Infrastructure), Wanfang, and CBM (China Biology Medicine) databases (published date up to February 15, 2021). Eligible studies were screened according to inclusion/exclusion criteria and principles of quality evaluation. Meta-analysis was performed using Stata 14.0 software. Odds ratios with their corresponding 95% confidence intervals (95%CI) were pooled to assess the association between SNP in the XRCC1 gene rs1799782 locus and thyroid cancer susceptibility.ResultsTwelve articles were eligible for this meta-analysis. Meta-analysis results were shown as follows: No significant association was found between XRCC1 rs1799782 polymorphism and thyroid cancer in overall population [Dominant model: CT+TT vs CC, OR=1.07, 95%CI (0.84, 1.36). Recessive model: TT vs CT+CC, OR=1.48, 95%CI (0.95, 2.31). Allelic model: T vs C, OR=1.15, 95%CI (0.93, 1.43). Codominant model: TT vs CC: OR=1.44, 95%CI (0.83, 2.53); CT vs CC, OR=1.02, 95%CI (0.82, 1.28); TT vs CT, OR=1.40, 95%CI (0.98, 1.99)]. rs1799782 polymorphism was significantly associated with the risk of thyroid cancer in Chinese population [Dominant model: CT+TT vs CC, OR=1.38, 95%CI (1.11, 1.71). Recessive model : TT vs CT+CC, OR=1.97, 95%CI (1.55, 2.50); Allelic model: T vs C, OR=1.40, 95%CI (1.16, 1.68). Codominant model: TT vs CC, OR=2.12, 95%CI (1.66, 2.71); CT vs CC, OR=1.26, 95%CI (1.09, 1.47); TT vs CT, OR=1.70, 95%CI (1.31, 2.21)]. rs1799782 polymorphism was significantly associated with the risk of thyroid cancer in Asian population [Dominant model: CT+TT vs CC, OR=0.64, 95%CI (0.49, 0.83). Codominant model: TT vs CC: OR=0.50, 95%CI (0.33, 0.74); CT vs CC, OR=0.65, 95%CI (0.49, 0.86)].ConclusionsThere is no significant correlation between XRCC1 rs1799782 polymorphism and the risk of thyroid cancer in general population. The XRCC1 rs1799782 polymorphism may be associated with an increased thyroid cancer risk among Chinese, and a tendency for decreased thyroid cancer risk among Asians (Chinese excluded). The XRCC1 rs1799782 polymorphism is not associated with thyroid cancer susceptibility among Caucasians under all genetic models.