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MicroRNA Promoter Methylation in Colorectal Cancer 结直肠癌中的MicroRNA启动子甲基化
Pub Date : 2021-03-14 DOI: 10.18502/BCCR.V11I3.5720
Masoud Asefi, Nayebali Rezvani, Mohammad Hasan Soheilifar, M. Saidijam, Ali Mahdavinezhad
Colorectal cancer (CRC) is one of the most common cancers worldwide. The beginning and progression of the disease are thought to be determined by combinations of epigenetic and genetic changes that trigger multistep programs of carcinogenesis. In colorectal cancer, epigenetic alterations, in particular promoter CpG island methylation, occur more commonly than genetic mutations. Hyper-methylation contributes to carcinogenesis via inducing transcriptional silencing or down-regulation of tumor suppressor genes. DNA methylation alteration has a high potential for minimally invasive biomarker identification. Genome analysis has confirmed that microRNA expression is deregulated in most cancer types through several mechanisms, including failings in the microRNA biogenesis machinery. Moreover, microRNAs can be dysregulated by abnormal CpG methylation in cancer. Since it is believed that epigenetic changes occur in the early stages of the disease, these changes can be used for the early detection of cancer. In this review, we intend to study the role of microRNA gene promoter methylation in colorectal cancer.
结直肠癌(CRC)是世界上最常见的癌症之一。这种疾病的开始和发展被认为是由诱发多步骤癌变的表观遗传和遗传变化的组合决定的。在结直肠癌中,表观遗传改变,特别是启动子CpG岛甲基化,比基因突变更常见。超甲基化通过诱导肿瘤抑制基因的转录沉默或下调来促进癌变。DNA甲基化改变在微创生物标志物鉴定中具有很高的潜力。基因组分析证实,在大多数癌症类型中,microRNA的表达是通过几种机制解除调控的,包括microRNA生物发生机制的失败。此外,癌症中CpG甲基化异常会导致microrna失调。由于人们认为表观遗传变化发生在疾病的早期阶段,因此这些变化可用于癌症的早期检测。在这篇综述中,我们打算研究microRNA基因启动子甲基化在结直肠癌中的作用。
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引用次数: 0
PCR-HRM for Detecting JAK2V617F Gene Mutation: Is It a Sensitive Assay? PCR-HRM检测JAK2V617F基因突变:是一种敏感的检测方法吗?
Pub Date : 2021-03-14 DOI: 10.18502/BCCR.V11I4.5722
M. Rezaei, M. Toutkaboni, Babak Salimi, S. Seifi, F. Sheikholeslami
Background: A substitution of G to T at nucleotide 1849 in exon 14 of the Janus kinase2 (JAK2) gene is well recognized in myeloproliferative neoplastic disorders (MPNs). Based on WHO guidelines, detection of the mutation is very important to confirm the disease in suspected patients. Methods: Eighty-seven patients with different background diseases were tested for JAK2 V617F mutation by four different methods, including polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP), amplification refractory mutation system (ARMS), polymerase chain reaction-high resolution melting (PCR-HRM), and two different commercial kits. Results: The mean age of patients was 53.38±17.43 years, 72.4% were males, and 37.6% were females. JAK2 mutation was detected in 16 patients (18.3%). Of those, 7 (43.75%) suffered from PV, 5 (31.25%) from ET, 3 (18.75%) from PMF, and 1 (6.15%) from unclassified neoplastic disorders. The frequency of JAK2 mutation was 71.4% (5/7) in PV, 80% (4/5) in ET, and 66.7% (2/3) in PMF patients. The sensitivity, specificity, positive predictive value (PPV), negative predictive value (NPV), and GE of PCR-HRM for detection of the JAK2 mutation was 86.7%, 100%, 100%, 97.3%, and 97.7%, respectively. While the sensitivity, specificity, PPV, NPV, and GE of PCR-RFLP were 93.3%, 80.5%, 50%, 98.3%, and 82.7%, respectively. On the other hand, the sensitivity, specificity, PPV, NPV, and GE of ARMS assays were evaluated by about 80%, 96%, 100%, 96%, and 96.5%, respectively. Conclusion: This study showed that PCR-HRM was a more sensitive assay to detect the JAK2 V617F mutation than the other assays. So, it can be used as a quick, easy, and effective method for screening the JAK2 V617F mutation in patients with MPNs disorders. PCR-RFLP must accompany it as a gold standard method for confirmation of the mutation of JAK2 V617F.
背景:在骨髓增殖性肿瘤疾病(mpn)中,Janus激酶2 (JAK2)基因14外显子1849核苷酸G被T取代是公认的。根据世卫组织指南,检测突变对于在疑似患者中确认疾病非常重要。方法:采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)、扩增难解突变系统(ARMS)、聚合酶链反应-高分辨率熔融(PCR-HRM)和两种不同的商用试剂盒对87例不同背景疾病患者进行JAK2 V617F突变检测。结果:患者平均年龄53.38±17.43岁,男性占72.4%,女性占37.6%。16例(18.3%)患者检测到JAK2突变。其中,PV 7例(43.75%),ET 5例(31.25%),PMF 3例(18.75%),未分类肿瘤疾病1例(6.15%)。JAK2突变频率在PV中为71.4% (5/7),ET中为80% (4/5),PMF中为66.7%(2/3)。PCR-HRM检测JAK2突变的敏感性、特异性、阳性预测值(PPV)、阴性预测值(NPV)和GE分别为86.7%、100%、100%、97.3%和97.7%。PCR-RFLP的敏感性为93.3%,特异性为80.5%,PPV为50%,NPV为98.3%,GE为82.7%。ARMS法的敏感性、特异性、PPV、NPV和GE分别约为80%、96%、100%、96%和96.5%。结论:PCR-HRM检测JAK2 V617F突变的灵敏度高于其他检测方法。因此,它可以作为一种快速、简便、有效的筛选mpn疾病患者JAK2 V617F突变的方法。PCR-RFLP必须作为确认JAK2 V617F突变的金标准方法。
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引用次数: 1
Benign Multi-Cystic Peritoneal Mesothelioma: A Case Report 良性多囊腹膜间皮瘤1例报告
Pub Date : 2019-06-23 DOI: 10.18502/bccr.v11i2.1659
A. Shaghaghi, Roya Yousefian
Benign multicystic peritoneal mesothelioma (BMPM) is a rare disorder that occurs predominantly in reproductive-aged women. A 42-year-old male referred to our emergency department in Mousavi Hospital of Zanjan University, suffering from diffuse abdominal pain. He mentioned a history of operation two years ago, during which cystic tumors had been removed from his abdomen. A cytoreductive surgery was performed. The pathologic study confirmed the diagnosis of BMPM and immunohistochemical analysis verified the negative expression of CD34 marker and positive expression of calretinine in the cyst lining. Preoperative diagnosis of BMPM is difficult and definitive diagnosis requires histological evaluation of the specimen. Due to the rarity of BMPM, the need for familiarity with this benign but aggressive tumor is felt.
良性多囊腹膜间皮瘤(BMPM)是一种罕见的疾病,主要发生在育龄妇女。一名42岁男性因弥漫性腹痛来到赞詹大学穆萨维医院急诊科就诊。他提到了两年前的手术史,当时他的腹部切除了囊性肿瘤。行细胞减少手术。病理证实了BMPM的诊断,免疫组化分析证实了囊肿内膜CD34标志物的阴性表达和calretinine的阳性表达。BMPM的术前诊断是困难的,明确的诊断需要标本的组织学评估。由于BMPM的罕见性,有必要熟悉这种良性但侵袭性的肿瘤。
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引用次数: 2
Pectoralis Major Myocutaneous Flap Reconstruction with Deltopectoral Flap Incision in the Surgical Treatment of Oral Cancer 胸三角皮瓣切开重建胸大肌肌皮瓣在口腔癌手术治疗中的应用
Pub Date : 2019-06-23 DOI: 10.18502/BCCR.V11I2.1657
M. M. Davudov, I. Harirchi, Z. Mirzajani
Background: One of the main goals of patient management is the reconstruction of tissue defects following surgical resection for oral cancer. A variety of flaps used for this purpose, the most frequent being a Pectoralis Major Myocutaneus Flap (PMMF). This flap is currently widely used for the reconstruction of different defects of the head and neck. Methods: Surgical resection of the primary tumor, as well as neck dissection, performed on 29 patients with oral squamous cell carcinoma between 2011–2017 in City Hospital #1 and Surgical Training Clinic of Azerbaijan Medical University. PMMF used for the reconstruction of defects using a deltopectoral flap incision. Results: In 22 patients (75.8 %) primary healing occurred following a PMMF. Four patients (13.8 %) suffered PMMF necrosis and were took back to the operating room for secondary reconstruction with a deltopectoral flap. In three patients (10.3%) the skin of the flap underwent necrosis, resulting in the development of an orocutaneous fistula. Conclusion: Use of PMMF with deltopectoral flap incision enables deltopectoral flap availability. This flap can then used early on or if PMMF fails.
背景:口腔癌手术切除后组织缺损的重建是患者管理的主要目标之一。多种皮瓣用于此目的,最常见的是胸大肌肌皮瓣(PMMF)。该皮瓣目前广泛应用于头颈部各种缺损的重建。方法:2011-2017年在阿塞拜疆医科大学第一市立医院和外科培训诊所对29例口腔鳞状细胞癌患者行原发肿瘤手术切除及颈部清扫术。PMMF用于三角胸肌瓣切口缺损的重建。结果:22例患者(75.8%)在PMMF后发生了原发性愈合。4例(13.8%)患者出现PMMF坏死,并被带回手术室用三角胸肌瓣进行二次重建。在3例(10.3%)患者中,皮瓣的皮肤发生坏死,导致口皮瘘的发展。结论:应用PMMF配合三角瓣切口,可获得三角瓣。这个皮瓣可以在早期使用,或者如果PMMF失败。
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引用次数: 1
Metabolomics in Cancer 癌症代谢组学研究
Pub Date : 2019-06-09 DOI: 10.18502/BCCR.V11I2.1654
M. Mobasheri
The article's abstract is no available.
这篇文章的摘要找不到。
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引用次数: 0
Challenges with the Emergency Departments Use among Cancer Patients; a Mini Review 癌症患者使用急诊科面临的挑战迷你评论
Pub Date : 2019-05-26 DOI: 10.18502/BCCR.V11I2.1658
M. Mobasheri, Rahim Behtar, S. Sadighi
According to the studies the rate of emergency departments use among cancer patients exceed those of general population; however, there are differences based on cancer type, initial treatments, socioeconomic status, disease stages, health insurance status and so on. Patients’ symptoms and the severity of complications are varied as well. The emergency departments are actively involved in different stages of cancer management such as primary diagnosis, ongoing treatments and end-of-life period. Cancer patients usually have more serious complications and need more specialized cares at the end of life period, during chemotherapy and surgical treatments. Understanding the reasons for such visits could be useful in the development of dedicated interventions for preventing unnecessary emergency department visits, which is discussed in this mini-review.
研究表明,癌症患者急诊科使用率高于普通人群;然而,根据癌症类型、初始治疗、社会经济地位、疾病分期、健康保险状况等因素,存在差异。患者的症状和并发症的严重程度也各不相同。急诊科积极参与癌症管理的不同阶段,如初步诊断、持续治疗和生命末期。癌症患者通常有更严重的并发症,在生命的最后阶段,在化疗和手术治疗期间需要更多的专业护理。了解这种访问的原因可能有助于制定专门的干预措施,以防止不必要的急诊科访问,这在本小型综述中进行了讨论。
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引用次数: 0
Treatment of Severe Urinary Incontinence following Radical Prostatectomy: Experience with Bioceram as a Bulking Agent 根治性前列腺切除术后严重尿失禁的治疗:生物胶作为膨胀剂的经验
Pub Date : 2019-05-09 DOI: 10.18502/bccr.v11i2.1656
M. Ayati, E. Amini, M. Nowroozi, Seyed Ali Momeni, S. O. Moghadam, R. S. Damavand
Background: To evaluate the efficacy of Bioceram injection in men with severe stress urinary incontinence following radical prostatectomy. Methods: A total of 18 patients underwent retrograde injection of Bioceram for severe stress urinary incontinence following radical prostatectomy. Evaluation by pad test, international consultation on the Incontinence Questionnaire - Short Form (ICIQ-SF) and American Urology Association Symptom Score - Quality of Life (AUASS-QOL) was performed before and after injection therapy. Patients were considered cured if they were using no pads or only one safety pad per day. Results: Of 18 patients, 14 had received postoperative external beam radiation therapy. Furthermore, 5 patients required transurethral incision due to simultaneous stricture of the urethrovesical anastomosis. The baseline daily pad count changed from a mean of 6.1± 0.8 to 5.3 ± 1.7 (p = 0.010). None of the patients were cured and only 3 patients showed signs of improvement following injection. Conclusion: In patients with severe urinary incontinence, treatment with bulking agent injection is associated with modest efficacy.
背景:评价生物角蛋白注射液治疗根治性前列腺切除术后严重压力性尿失禁的疗效。方法:对18例根治性前列腺切除术后严重应激性尿失禁患者行生物角胺逆行注射治疗。在注射治疗前后通过尿垫试验、国际失禁问卷短表(ICIQ-SF)和美国泌尿学会症状评分-生活质量(AUASS-QOL)进行评估。如果患者不使用护垫或每天只使用一个安全护垫,则认为他们已经治愈。结果:18例患者中,14例接受了术后外束放射治疗。5例患者因尿道膀胱吻合术同时狭窄,需经尿道切开。基线每日尿垫计数从平均值6.1±0.8变为5.3±1.7 (p = 0.010)。所有患者均未治愈,仅有3例患者在注射后出现好转迹象。结论:对于严重尿失禁患者,注射填充剂治疗效果一般。
{"title":"Treatment of Severe Urinary Incontinence following Radical Prostatectomy: Experience with Bioceram as a Bulking Agent","authors":"M. Ayati, E. Amini, M. Nowroozi, Seyed Ali Momeni, S. O. Moghadam, R. S. Damavand","doi":"10.18502/bccr.v11i2.1656","DOIUrl":"https://doi.org/10.18502/bccr.v11i2.1656","url":null,"abstract":"Background: To evaluate the efficacy of Bioceram injection in men with severe stress urinary incontinence following radical prostatectomy. Methods: A total of 18 patients underwent retrograde injection of Bioceram for severe stress urinary incontinence following radical prostatectomy. Evaluation by pad test, international consultation on the Incontinence Questionnaire - Short Form (ICIQ-SF) and American Urology Association Symptom Score - Quality of Life (AUASS-QOL) was performed before and after injection therapy. Patients were considered cured if they were using no pads or only one safety pad per day. Results: Of 18 patients, 14 had received postoperative external beam radiation therapy. Furthermore, 5 patients required transurethral incision due to simultaneous stricture of the urethrovesical anastomosis. The baseline daily pad count changed from a mean of 6.1± 0.8 to 5.3 ± 1.7 (p = 0.010). None of the patients were cured and only 3 patients showed signs of improvement following injection. Conclusion: In patients with severe urinary incontinence, treatment with bulking agent injection is associated with modest efficacy.","PeriodicalId":8706,"journal":{"name":"Basic & Clinical Cancer Research","volume":"52 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2019-05-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"85482216","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Estrogen Receptor Alpha Gene Single Nucleotide Polymorphisms, +2464 C/T and -4576A/C, and Breast Cancer Risk, a Hospital-Based Case-Control Study 雌激素受体α基因单核苷酸多态性,+ 2464c /T和-4576A/C与乳腺癌风险,一项基于医院的病例对照研究
Pub Date : 2019-05-09 DOI: 10.18502/BCCR.V11I2.1655
A. Amirzargar, M. Sadr, Samira Esmaeili Reykande, E. Mohebbi, Mohammad Shirkhoda, M. Mahmoodi
Background: Estrogen is a risk factor for the development of breast cancer. The effect of estrogen is primarily mediated by estrogen receptor alpha 1 (ESR1). In this study, we investigated the association between breast cancer risk and the frequency of alleles and genotypes for two ESR1 single nucleotide polymorphisms (SNPs) in breast cancer patients and a healthy control group. Methods: A total of 98 female patients with pathologically confirmed breast cancer and 93 age-matched healthy female controls who were selected from the visitors of the general hospital were recruited in the study. Two ESR1 candidate polymorphisms; +2464 C/T (rs3020314) and -4576 A/C (rs1514348) were selected. The frequency of alleles and genotypes was determined using Quantitative Real-Time PCR assay. Linkage disequilibrium (LD) was assessed for each pair of markers. Using logistic regression, genotype frequencies were estimated as odds ratios with 95% confidence intervals. Results: There was no significant difference in the genotype and allele distributions of ESR1 for SNPs +2464 C/T and SNP -4576 A/C between patients and controls. The frequency of the ESR1 +2464 T/T genotype in case and control groups was 31.6% vs 29.0%, (OR TT/TC: 1.13, 95%CI: 0.58, 2.20; P = 0.69). The frequency of the +2464C allele was 33.9% vs 35.2%, (OR C/T: 0.94, 95%CI: 0.60, 1.47; P =0.79). The frequency of the ESR1 -4576C/C genotype in case and control groups was 37.75% vs 33.36%, OR CC/AC: 1.02, 95%CI: 0.51, 1.97; P =0.98). The frequency of the -4576A allele was 36.2% vs 43.6 %, (OR C/A: 0.73, 95%CI: 0.47, 1.13; P =0.14). Conclusion: The results indicated that ESR1 polymorphism does not show any significant association with breast cancer risk among female Iranian adults.
背景:雌激素是乳腺癌发生的一个危险因素。雌激素的作用主要是由雌激素受体α 1 (ESR1)介导的。在这项研究中,我们调查了乳腺癌患者和健康对照组中两个ESR1单核苷酸多态性(snp)的等位基因频率和基因型与乳腺癌风险之间的关系。方法:选取综合医院就诊人员中经病理证实的女性乳腺癌患者98例和年龄相匹配的健康女性93例作为研究对象。两个ESR1候选多态性;选择+2464 C/T (rs3020314)和-4576 A/C (rs1514348)。采用实时荧光定量PCR法测定等位基因频率和基因型。对每对标记进行连锁不平衡(LD)评价。使用逻辑回归,以95%置信区间的优势比估计基因型频率。结果:SNP +2464 C/T和SNP -4576 A/C的ESR1基因型和等位基因分布在患者与对照组之间无显著差异。病例组和对照组ESR1 +2464 T/T基因型频率分别为31.6%和29.0%,(OR TT/TC: 1.13, 95%CI: 0.58, 2.20;P = 0.69)。+2464C等位基因的频率为33.9% vs 35.2%, (OR C/T: 0.94, 95%CI: 0.60, 1.47;P = 0.79)。病例组和对照组ESR1 -4576C/C基因型频率分别为37.75%和33.36%,OR CC/AC: 1.02, 95%CI: 0.51, 1.97;P = 0.98)。-4576A等位基因频率为36.2% vs 43.6% (OR C/A: 0.73, 95%CI: 0.47, 1.13;P = 0.14)。结论:结果表明,ESR1多态性与伊朗成年女性乳腺癌风险无显著关联。
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引用次数: 0
The Direct Medical Care Costs Associated with Gastric Cancer in a Third-level Hospital in Iran 伊朗某三级医院胃癌直接医疗费用分析
Pub Date : 2019-01-16 DOI: 10.18502/BCCR.V11I1.1650
S. Mohammadpur, M. Yousefi, H. Ebrahimipur, Touraj Harati-Khalilabad, H. Haghighi, M. Kiani, S. Shahidsales, A. Taghipour
Background: Approximately 20 million individuals are afflicted with cancer worldwide. Gastric cancer is the fourth leading cause of death in the world today. The aim of this study was to evaluate the direct medical care costs of gastric cancer patients in a tertiary teaching hospital in Iran. Methods: The present study is descriptive-analytical, carried out in two main stages. In the first stage we designed a form based on valid international guidelines. The second step identified the costs of diagnosis and treatment of gastric cancer. To analyze the cost data, descriptive statistics such as mean and standard deviation were utilized. We used nonparametric statistical tests such as Mann-Whitney, Wilcoxon in SPSS 16 software for data analysis. Results: In this study, the records of 449 gastric cancer patients who had referred to Omid tertiary teaching hospital of Mashhad between the years 2005 and 2015 were studied. According to the results, the highest average costs were related to patient hospitalization costs. Based on the significance level of the Mann Whitney test, no remarkable difference could be seen in the total costs of metastatic and non-metastatic patients (P-value: P> 0.05). Conclusion: Organizations such as: insurance agencies, charities and financial institutions need to adopt new policies to reduce patients’ expenditures, remove financial barriers and prevent patients from facing catastrophic costs.
背景:全世界大约有2000万人患有癌症。胃癌是当今世界上第四大死因。本研究旨在评估伊朗某三级教学医院胃癌患者的直接医疗费用。方法:本研究采用描述性分析方法,分两个主要阶段进行。在第一阶段,我们根据有效的国际准则设计了一个表格。第二步确定胃癌的诊断和治疗费用。为了分析成本数据,使用了均值和标准差等描述性统计。我们使用SPSS 16软件中的Mann-Whitney、Wilcoxon等非参数统计检验进行数据分析。结果:本研究对2005 - 2015年在马什哈德奥米德三级教学医院转诊的449例胃癌患者的病历进行了分析。结果显示,最高的平均费用与患者住院费用有关。根据Mann Whitney检验的显著性水平,转移性和非转移性患者的总成本无显著差异(P值:P> 0.05)。结论:保险机构、慈善机构和金融机构等组织需要采取新的政策来减少患者的支出,消除财务障碍,防止患者面临灾难性的成本。
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引用次数: 0
Mutation Analysis of Exon 23 of the PTCH Tumor Suppressor Gene in Multiple Basal Cell Carcinoma Patients with a History of Radiodermatitis 有放射性皮炎病史的多发性基底细胞癌患者PTCH肿瘤抑制基因23外显子突变分析
Pub Date : 2019-01-14 DOI: 10.18502/BCCR.V11I1.1651
Sara Mirhadi, A. Abbasi, M. Mobasheri, H. Moslehi, M. Modarressi
Background: Basal Cell Carcinoma (BCC) with its slow-growing and rarely metastatic nature is the most common human neoplasm. Multiple BCCs mostly result from germline mutations in the tumor suppressor gene, PTCH with a genetic transmission pattern. Multiple BCCs may also originate from radiodermatitis which is a significant side effect of ionizing radiation exposure delivered to the skin in various skin treatments. PTCH is a critical member of the Sonic Hedgehog signalling pathway and mutations in this gene have been reported in as many as 40-80% of skin cancers. Exon number 23 is a critical exon in the function of the PTCH protein. Mutations have been reported in codon 1315 of PTCH in non-melanoma skin cancers. Methods: We assessed mutations in exon 23 of the PTCH gene by polymerase chain reaction and direct sequencing in the peripheral blood cells of 10 patients with multiple BCCs. All of the subjects were selected from among patients with a history of radiation exposure and subsequent radiodermatitis. Results: Direct sequencing revealed a Cytosine to Thymine mutation in codon 1315 of the PTCH gene in 60% of patients, 50% of which were heterozygotes, possessing both the C and T allele, and 10% were homozygotes for the T allele in the same position. Four subjects (40%) were normal homozygotes of the C allele, similar to the normal population. Conclusion: Mutations with ID: rs 3575564 were detected in codon 1315 which transform the proline amino-acid to leucine in the PTCH protein. This transformation may affect the normal function of the PTCH protein, as reported previously. Patients with multiple BCCs who had a history of radiation exposure show a transformation from cytosine to thymine in codon number 1315 of the PTCH gene in their peripheral blood cells. Subsequent assessment of BCC tissues will clarify the somatic mutagenesis effects of radiation.
背景:基底细胞癌(BCC)是人类最常见的肿瘤,其生长缓慢且很少转移。多发性bcc主要由肿瘤抑制基因PTCH的种系突变引起,PTCH具有遗传传递模式。多种bcc也可能源于放射性皮炎,这是在各种皮肤治疗中暴露于皮肤的电离辐射的显著副作用。PTCH是Sonic Hedgehog信号通路的关键成员,据报道,该基因的突变在多达40-80%的皮肤癌中存在。23号外显子是PTCH蛋白功能的关键外显子。在非黑色素瘤皮肤癌中,PTCH密码子1315有突变的报道。方法:采用聚合酶链反应和直接测序的方法,对10例多发性bcc患者外周血PTCH基因23外显子突变进行了检测。所有的研究对象都是从有辐射暴露史和随后的放射性皮炎的患者中挑选出来的。结果:直接测序发现60%的患者PTCH基因密码子1315有胞嘧啶到胸腺嘧啶突变,50%为杂合子,同时具有C和T等位基因,10%为T等位基因在同一位置的纯合子。4名受试者(40%)为C等位基因的正常纯合子,与正常人群相似。结论:PTCH蛋白的脯氨酸氨基酸转化为亮氨酸的密码子1315中存在ID为rs 3575564的突变。如前所述,这种转化可能影响PTCH蛋白的正常功能。有辐射暴露史的多发性bcc患者外周血PTCH基因密码子1315从胞嘧啶转化为胸腺嘧啶。后续的BCC组织评估将阐明辐射的体细胞诱变效应。
{"title":"Mutation Analysis of Exon 23 of the PTCH Tumor Suppressor Gene in Multiple Basal Cell Carcinoma Patients with a History of Radiodermatitis","authors":"Sara Mirhadi, A. Abbasi, M. Mobasheri, H. Moslehi, M. Modarressi","doi":"10.18502/BCCR.V11I1.1651","DOIUrl":"https://doi.org/10.18502/BCCR.V11I1.1651","url":null,"abstract":"Background: Basal Cell Carcinoma (BCC) with its slow-growing and rarely metastatic nature is the most common human neoplasm. Multiple BCCs mostly result from germline mutations in the tumor suppressor gene, PTCH with a genetic transmission pattern. Multiple BCCs may also originate from radiodermatitis which is a significant side effect of ionizing radiation exposure delivered to the skin in various skin treatments. PTCH is a critical member of the Sonic Hedgehog signalling pathway and mutations in this gene have been reported in as many as 40-80% of skin cancers. Exon number 23 is a critical exon in the function of the PTCH protein. Mutations have been reported in codon 1315 of PTCH in non-melanoma skin cancers. Methods: We assessed mutations in exon 23 of the PTCH gene by polymerase chain reaction and direct sequencing in the peripheral blood cells of 10 patients with multiple BCCs. All of the subjects were selected from among patients with a history of radiation exposure and subsequent radiodermatitis. Results: Direct sequencing revealed a Cytosine to Thymine mutation in codon 1315 of the PTCH gene in 60% of patients, 50% of which were heterozygotes, possessing both the C and T allele, and 10% were homozygotes for the T allele in the same position. Four subjects (40%) were normal homozygotes of the C allele, similar to the normal population. Conclusion: Mutations with ID: rs 3575564 were detected in codon 1315 which transform the proline amino-acid to leucine in the PTCH protein. This transformation may affect the normal function of the PTCH protein, as reported previously. Patients with multiple BCCs who had a history of radiation exposure show a transformation from cytosine to thymine in codon number 1315 of the PTCH gene in their peripheral blood cells. Subsequent assessment of BCC tissues will clarify the somatic mutagenesis effects of radiation.","PeriodicalId":8706,"journal":{"name":"Basic & Clinical Cancer Research","volume":"87 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2019-01-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"89028890","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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Basic & Clinical Cancer Research
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