• 제목/요약/키워드: CHEK2

검색결과 30건 처리시간 0.024초

Lack of CHEK2 Gene Mutations in Differentiated Thyroid Carcinoma Patients using High Resolution Melting Analysis

  • Fayaz, Shima;Fard-Esfahani, Pezhman;Torbati, Peyman Mohammadi
    • Asian Pacific Journal of Cancer Prevention
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    • 제15권12호
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    • pp.5019-5022
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    • 2014
  • Recently, mutations in the genes involved in cell cycle control, including CHEK2, are being considered as etiological factors in different kinds of cancers. The CHEK2 protein plays an important role in protecting damaged DNA from entering mitosis. In this study the potential effects of two common mutations $IVS2+1G{\rightarrow}A$ and Ile157Thr of CHEK2 gene in differentiated thyroid carcinoma (DTC) were evaluated. A total of 100 patients admitted to the Research Institute for Nuclear Medicine were diagnosed with DTC based on pathology reports of surgery samples. An additional 100 people were selected as a control group with no cancer history. PCR-HRM (high resolution melting) analysis was performed to deal with each of mutations in all case and control samples separately. During the analysis of $IVS2+1G{\rightarrow}A$ and Ile157Thr mutations of CHEK2 gene in the case and control groups, all the samples were identified as wild homozygote type. The finding suggests that $IVS2+1G{\rightarrow}A$ and Ile157Thr mutations of CHEK2 gene do not constitute a risk factor for DTC in the Iranian population. However, further studies with larger population are required to confirm the outcome.

CHEK2 1100delC Variant and Breast Cancer Risk in Caucasians: A Meta-analysis Based on 25 Studies with 29,154 Cases and 37,064 Controls

  • Yang, Yuan;Zhang, Fan;Wang, Yang;Liu, Sheng-Chun
    • Asian Pacific Journal of Cancer Prevention
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    • 제13권7호
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    • pp.3501-3505
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    • 2012
  • Links between the CHEK2 1100delC heterozygote and breast cancer risk have been extensively explored. However, both positive and negative associations with this variant have been reported in individual studies. For a detailed assessment of the CHEK2 1100delC heterozygote and breast cancer risk, relevant studies published as recently as May 2012 were identified using PUBMED and EMBASE and selected using a priori defined criteria. The strength of the relationship between the CHEK2 1100delC variant and breast cancer risks was assessed by odds ratios (ORs) under the fixed effects model. A total of 29,154 cases and 37,064 controls from 25 case-control studies were identified in this meta-analysis. The CHEK2 1100delC heterozygote was more frequently detected in cases than in controls (1.34% versus 0.44%). A significant association was found between CHEK2 1100delC heterozygote and breast cancer risk (OR=2.75, 95% CI: [2.25, 3.36]). The ORs and CIs were 2.33 (95% CI: [1.79, 3.05]), 3.72 (95% CI: [2.61, 5.31]) and 2.78 (95% CI: [2.28, 3.39]) respectively in unselected, family, early-onset breast cancer subgroups. The CHEK2 1100delC variant could be a potential factor for increased breast cancer risk in Caucasians. However, more consideration is needed in order to apply it to allele screening or other clinical work.

Identification of a Novel BRCA2 and CHEK2 A-C-G-C Haplotype in Turkish Patients Affected with Breast Cancer

  • Haytural, Hazal;Yalcinkaya, Nazli;Akan, Gokce;Arikan, Soykan;Ozkok, Elif;Cakmakoglu, Bedia;Yaylim, Ilhan;Aydin, Makbule;Atalar, Fatmahan
    • Asian Pacific Journal of Cancer Prevention
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    • 제14권5호
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    • pp.3229-3235
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    • 2013
  • Background: Many breast cancers are caused by certain rare and familial mutations in the high or moderate penetrance genes BRCA1, BRCA2 and CHEK2. The aim of this study was to examine the allele and genotype frequencies of seven mutations in BRCA1, BRCA2 and CHEK2 genes in breast cancer patients and to investigate their isolated and combined associations with breast cancer risk. Methods: We genotyped seven mutations in BRCA1, BRCA2 and CHEK2 genes and then analyzed single variations and haplotype associations in 106 breast cancer patients and 80 healthy controls. Results: We found significant associations in the analyses of CHEK2- 1100delC (p=0.001) and BRCA1-5382insC (p=0.021) mutations in breast cancer patients compared to controls. The highest risk was observed among breast cancer patients carrying both CHEK2-1100delC and BRCA2- Met784Val mutations (OR=0.093; 95%CI 0.021-0.423; p=0.001). We identified one previously undescribed BRCA2 and a CHEK2 four-marker haplotype of A-C-G-C which was overrepresented ($X^2$=7.655; p=0.0057) in the patient group compared to controls. Conclusion: In this study, we identified a previously undescribed BRCA2 and CHEK2 A-C-G-C haplotype in association with the breast cancer in our population. Our results further suggest that the CHEK2-1100delC mutation in combination with BRCA2-Met784Val may lead to an unexpected high risk which needs to be confirmed in larger cohorts in order to better understand their role in the development and prognosis of breast cancer.

The CHEK2 I157T Variant and Colorectal Cancer Susceptibility: A Systematic Review and Meta-analysis

  • Liu, Chuan;Wang, Qing-Shui;Wang, Ya-Jie
    • Asian Pacific Journal of Cancer Prevention
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    • 제13권5호
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    • pp.2051-2055
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    • 2012
  • Background: The cell cycle checkpoint kinase 2 (CHEK2) gene I157T variant may be associated with an increased risk of colorectal cancer, but it is unclear whether the evidence is sufficient to recommend testing for the mutation in clinical practice. Materials and Methods: We systematically searched PubMed, EMBASES, Elsevier and Springer for relevant articles before Apr 2012. Summary odds ratios (ORs) and 95% confidence intervals (95% CIs) were calculated using a fixed-effects or random-effects models with Review Manager 5.0 software. Results: A total of seven studies including 4,029 cases and 13,844 controls based on the search criteria were included for analysis. A significant association of the CHEK2 I157T C variant with unselected CRC was found (OR = 1.61, 95% CI = 1.40-1.87, P < 0.001). We also found a significant association with sporadic CRC (OR = 1.48, 95% CI = 1.23-1.77, P < 0.001) and separately with familial CRC (OR = 1.97, 95% CI = 1.41-2.74, P < 0.001). Conclusion: This meta-analysis demonstrates that the CHEK2 I157T variant may be another important CRC-predisposing gene, which increases CRC risk, especially in familial CRC.

프로트롬빈시간 모니터링을 위한 CoaguChek XS의 유용성 (Utility of CoaguChek XS for Monitoring the Prothrombin Time)

  • 박노진;김용현;권경옥;나종성;원용순;성기범;이내희;최태윤;신정원;신희봉;이용화;이유경
    • Tuberculosis and Respiratory Diseases
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    • 제65권6호
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    • pp.471-475
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    • 2008
  • 연구배경: 와파린의 치료 효과를 유지하고 부작용을 방지하기 위해서는 수시로 프로트롬빈 시간을 모니터링 할 필요가 있다. 이러한 목적의 현장검사기기는 편리하지만 그 정확성에 있어서 문제가 될 수 있으므로 평가가 필요하다. 방 법: 2007년 8월부터 2008년 2월까지 순천향대학교 부천병원에 내원한 환자 중에서 경구용 항응고제(와파린)를 복용하는 85명의 환자들을 대상으로 하여 검사실 표준검사법과 CoaguChek-XS를 사용하여 각각 INR값을 측정하고 비교 분석하였다. 결 과: 전체 85명 환자 중 2번 이상 INR을 측정한 사람 은 모두 25명으로 이들의 INR 측정간격은 평균 8.6주이었고, CoaguChek-XS와 표준검사법에서 INR 2.0 미만의 측정값들이 각각 39%, 38%를 차지하였다. 와파린을 복용하는 환자에서 표준검사법으로 측정한 INR값이 높고, 낮은 두 명의 환자에서 각각 5번씩 측정한 결과 CoaguChek-XS의 변이계수는 각각 4.50, 2.45, CA-7000은 각각 1.67, 0.66이었다. 두 검사 기기간의 상관성은 $R^2$이 0.966으로서 우수하였으며 Bland-Altman 분석을 통해서 두 기기간 차이의 평균이 0.13이었고 일치범위의 한계(95% 신뢰구간)는 -0.47~+0.72이었다. 또한 INR 값이 증가할수록 CoaguChek-XS의 측정값은 표준방법에 비해서 높게 측정되는 경향을 보였다. 결 론: CoaguChek-XS는 정밀도가 좋고 기존의 검사실표준검사법과의 상관성이 우수하였다. 따라서 CoguChek-XS는 경구 항응고제 치료환자의 INR을 모니터링 하는데 도움이 될 것으로 생각된다.

The CHEK2 I157T Variant and Breast Cancer Susceptibility: A Systematic Review and Meta-analysis

  • Liu, Chuan;Wang, Ying;Wang, Qing-Shui;Wang, Ya-Jie
    • Asian Pacific Journal of Cancer Prevention
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    • 제13권4호
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    • pp.1355-1360
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    • 2012
  • Background: The cell cycle checkpoint kinase 2 (CHEK2) gene I157T variant may be associated with an increased risk of breast cancer, but it is unclear whether the evidence is sufficient to recommend testing for the mutation in clinical practice. Materials and Methods: We systematically searched PubMed, Embase, Elsevier and Springer for relevant articles published before Nov 2011. Summary odds ratio (OR) and 95% confidence interval (95% CI) incidence rates were calculated using a random-effects model with STATA (version 10.0) software. Results: A total of fifteen case-control studies, including 19,621 cases and 27,001 controls based on the search criteria, were included for analysis. A significant association was found between carrying the CHEK2 I157T variant and increased risk of unselected breast cancer (OR = 1.48, 95% CI = 1.31-1.66, P < 0.0001), familial breast cancer (OR = 1.48, 95% CI = 1.16-1.89, P < 0.0001), and early-onset breast cancer (OR = 1.47, 95% CI = 1.29-1.66, P < 0.0001). We found an even stronger significant association between the CHEK2 I157T C variant and increased risk of lobular type breast tumors (OR = 4.17, 95% CI = 2.89-6.03, P < 0.0001). Conclusion: Our research indicates that the CHEK2 I157T variant may be another important genetic mutation which increases risk of breast cancer, especially the lobular type.

MiriChekTM Oral Bacter test kit를 활용한 개 치주염의 임상적 평가 (Clinical assessment of periodontitis in dogs using the MiriChekTM Oral Bacter test kit: An in vivo study)

  • Choi, Hyuck;Roh, Jae-Hee;Kim, Yun-Jeong;Hwang, In-Soo;Park, Woo-Dae;Kim, Min-Seok;Jeong, Young-Eui
    • 한국치위생학회지
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    • 제21권4호
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    • pp.337-348
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    • 2021
  • 연구목적: 본 연구는 개 치주염 평가에서 MiriChekTM Oral Bacter test kit의 임상적 유용성을 판단하기 위해 실시하였다. 연구방법: 개 61두를 공시하여 품종, 연령(개월), 성별, 체중, 질병 유무, 임상적 치주염 단계를 수의 임상 진단 후 상악 왼쪽 전구치의 치태를 채취하여 MiriChekTM Oral Bacter test kit를 이용하여 진단검사를 수행하였다. 연구결과: 대상 개 61두 중 건강한 개는 31두, 치주염 개는 30두였고, 치주염은 젊은 개보다 나이 든 개에게서 더 흔하게 나타났다. MiriChekTM Oral Bacter test kit의 양성 평균 73.3%, 음성 평균 80.7%의 민감도를 보였고, 치주염의 심각도와 높은 상관관계를 확인하였으며, 그 결과 MiriChekTM Oral Bacter test kit는 개 치주염 평가에 유용한 진단검사 방법임을 확인하였다. 결론: MiriChekTM Oral Bacter test kit와 같은 새로운 진단 보조 기구의 활용은 개에게서 발생하는 치주질환 진단의 신뢰성과 정확성을 높일 것으로 판단된다.

Novel Nonsense Variants c.58C>T (p.Q20X) and c.256G>T (p.E85X) in the CHEK2 Gene Identified dentified in Breast Cancer Patients from Balochistan

  • Baloch, Abdul Hameed;Khosa, Ahmad Nawaz;Bangulzai, Nasrullah;Shuja, Jamila;Naseeb, Hafiz Khush;Jan, Mohammad;Marghazani, Illahi Bakhsh;Kakar, Masood-ul-Haq;Baloch, Dost Mohammad;Cheema, Abdul Majeed;Ahmad, Jamil
    • Asian Pacific Journal of Cancer Prevention
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    • 제17권3호
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    • pp.1089-1092
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    • 2016
  • Breast cancer is the most commonly occurring and leading cause of cancer deaths among women globally. Hereditary cases account 5-10% of all the cases and CHEK2 is considered as a moderate penetrance breast cancer risk gene. CHEK2 plays a crucial role in response to DNA damage to promote cell cycle arrest and repair DNA damage or induce apoptosis. Our objective in the current study was to analyze mutations in the CHEK2 gene related to breast cancer in Balochistan. A total of 271 individuals including breast cancer patients and normal subjects were enrolled. All 14 exons of CHEK2 were amplified and sequenced. The majority of the patients (>95%) had invasive ductal carcinomas (IDCs), 52.1% were diagnosed with tumor grade III and 56.1% and 27.5% were diagnosed with advance stages III and IV. Two novel nonsense variants i.e. c.58C>T (P.Q20X) and c.256G>T (p.E85X) at exon 1 and 2 in two breast cancer patients were identified in the current study. Both the variants identified were novel and have not been reported elsewhere.

Novel Nonsense Variants c.58C>T (p.Q20X) and c.256G>T (p.E85X) in the CHEK2 Gene Identified in Breast Cancer Patients from Balochistan

  • Baloch, Abdul Hameed;Khosa, Ahmad Nawaz;Bangulzai, Nasrullah;Shuja, Jamila;Naseeb, Hafiz Khush;Jan, Mohammad;Marghazani, Illahi Bakhsh;Kakar, Masood-ul-Haq;Baloch, Dost Mohammad;Cheema, Abdul Majeed;Ahmad, Jamil
    • Asian Pacific Journal of Cancer Prevention
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    • 제17권7호
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    • pp.3623-3626
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    • 2016
  • Breast cancer is very common and the leading cause of cancer deaths among women globally. Hereditary cases account for 5-10% of the total burden and CHEK2, which plays crucial role in response to DNA damage to promote cell cycle arrest and repair or induce apoptosis, is considered as a moderate penetrance breast cancer risk gene. Our objective in the current study was to analyze mutations in related to breast cancer. A total of 271 individuals including breast cancer patients and normal subjects were enrolled and all 14 exons of CHEK2 were amplified and sequenced. The majority of the patients (>95%) were affected with invasive ductal carcinoma (IDC), 52.1% were diagnosed with grade III tumors and 56.2% and 27.5% with advanced stages III and IV. Two novel nonsense variants i.e. c.58C>T (P.Q20X) and c.256G>T (p.E85X) at exon 1 and 2 in two breast cancer patients were identified, both novel and not reported elsewhere.

즉석섭취식품에 존재하는 Salmonella spp.와 Listeria monocytogenes의 검출을 위한 SureTectTM와 표현형 및 유전자형 방법의 비교 (Comparison of SureTectTM with phenotypic and genotypic method for the detection of Salmonella spp. and Listeria monocytogenes in ready-to-eat foods)

  • 변계환;김병후;조아진;허은;윤성희;김태익;하상도
    • 한국식품저장유통학회지
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    • 제30권2호
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    • pp.262-271
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    • 2023
  • 본 연구에서는 real-time PCR(SureTectTM kit와 PowerChekTM kit), LAMP(3M MDS), 선택 배지를 이용하여 즉석섭취식품에 존재하는 Salmonella spp.와 L. monocytogenes의 검출 능력을 비교 및 평가하고 식품 매트릭스가 real-time PCR의 결과에 미치는 영향을 조사하였다. 4가지 서로 다른 농도로 접종된 식품을 동일한 증균배지를 이용하여 증균 후 세 가지 방법으로 검출한 결과, real-time PCR, LAMP, 선택 배지에서 모두 양성으로 검출되어 인위적으로 접종된 식품에서의 검출 성능은 동등한 것으로 나타났다. 또한, 식품 매트릭스가 real-time PCR의 신속 검출에 미치는 영향을 조사한 결과, Salmonella spp.의 검출에서 샐러드가 다른 식품에 비해 Ct value가 유의적으로 높은 것으로 나타나, 섬유질이 풍부한 식품에 존재하는 Salmonella spp.의 검출을 위해서는 충분한 균질화와 균체의 탈리, 그리고 효율적인 DNA의 증폭이 필요함을 알 수 있었다. 반면, L. monocytogenes의 검출은 식품 매트릭스마다 상이하며 혼합적인 양상을 보였다. 현재의 식품공전 규정에서 식품에 존재하는 식중독균의 신속 검출을 위한 장비와 시약의 사용은 대부분 사용자의 선택에 의존하고 있다. 본 실험에서 real-time PCR로 사용된 SureTectTM kit와 PowerChekTM kit는 기존 real-time PCR kit의 대체재로서 사용이 가능할 것으로 판단되며, 또한, LAMP도 우수한 검출 성능을 보였기에 식품안전 관리 수단으로 활용될 가능성이 있음을 시사하고 있다.