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2
Associations of MDM2 SNP309, transcriptional activity, mRNA expression, and survival in stage I non-small-cell lung cancer patients with wild-type p53 tumors.MDM2 SNP309 与野生型 p53 肿瘤的 I 期非小细胞肺癌患者的转录活性、mRNA 表达和生存的相关性。
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Association of MDM2 and p53 polymorphisms with the advancement of cervical carcinoma.MDM2 和 p53 多态性与宫颈癌进展的关联。
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Association of the SNP285 and SNP309 Genetic Variants with the Risk, Age at Onset and Prognosis of Breast Cancer in Central European Women: A Hospital-Based Case-Control Study.中欧女性中 SNP285 和 SNP309 遗传变异与乳腺癌风险、发病年龄和预后的关联:一项基于医院的病例对照研究。
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Results based on 124 cases of breast cancer and 97 controls from Taiwan suggest that the single nucleotide polymorphism (SNP309) in the MDM2 gene promoter is associated with earlier onset and increased risk of breast cancer.基于台湾地区124例乳腺癌患者和97例对照的研究结果表明,MDM2基因启动子中的单核苷酸多态性(SNP309)与乳腺癌发病较早及风险增加有关。
BMC Cancer. 2009 Jan 13;9:13. doi: 10.1186/1471-2407-9-13.
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No association between SNP309 promoter polymorphism in the MDM2 and cervical cancer in a study from northeastern Brazil.巴西东北部一项研究表明,MDM2基因的SNP309启动子多态性与宫颈癌之间无关联。
Cancer Detect Prev. 2007;31(5):371-4. doi: 10.1016/j.cdp.2007.09.001. Epub 2007 Nov 26.
10
Association of breast cancer outcome with status of p53 and MDM2 SNP309.乳腺癌预后与p53状态及MDM2基因SNP309的关联
J Natl Cancer Inst. 2006 Jul 5;98(13):911-9. doi: 10.1093/jnci/djj245.

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Associations of MDM2 rs2279744 and TP53 rs1042522 polymorphisms with cervical cancer risk: A meta-analysis and systematic review.MDM2基因rs2279744和TP53基因rs1042522多态性与宫颈癌风险的关联:一项荟萃分析和系统评价
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本文引用的文献

1
Prognostic significance of PIK3CA mutation in stage IIB to IVA cervical cancers treated by concurrent chemoradiotherapy with weekly cisplatin.每周顺铂同步放化疗治疗的IIB至IVA期宫颈癌中PIK3CA突变的预后意义
Medicine (Baltimore). 2018 Aug;97(31):e11392. doi: 10.1097/MD.0000000000011392.
2
Genetic alterations and PIK3CA gene mutations and amplifications analysis in cervical cancer by racial groups in the United States.美国不同种族群体宫颈癌的基因改变及PIK3CA基因突变与扩增分析
Int J Health Sci (Qassim). 2018 Jan-Feb;12(1):28-32.
3
Association of rs2279744 and rs117039649 promoter polymorphism with the risk of gynecological cancer: A meta-analysis of case-control studies.rs2279744和rs117039649启动子多态性与妇科癌症风险的关联:病例对照研究的荟萃分析
Medicine (Baltimore). 2018 Jan;97(2):e9554. doi: 10.1097/MD.0000000000009554.
4
Modifying effect of mouse double minute-2 promoter variants on risk of recurrence for patients with squamous cell carcinoma of oropharynx.小鼠双微体 2 启动子变异体对口咽鳞癌患者复发风险的修饰作用。
Sci Rep. 2017 Jan 3;7:39765. doi: 10.1038/srep39765.
5
Phosphatidyl inositol-3 kinase (PIK3CA) E545K mutation confers cisplatin resistance and a migratory phenotype in cervical cancer cells.磷脂酰肌醇-3激酶(PIK3CA)E545K突变赋予宫颈癌细胞顺铂耐药性和迁移表型。
Oncotarget. 2016 Dec 13;7(50):82424-82439. doi: 10.18632/oncotarget.10955.
6
PIK3CA mutation analysis in Chinese patients with surgically resected cervical cancer.中国手术切除宫颈癌患者的PIK3CA基因突变分析
Sci Rep. 2015 Sep 11;5:14035. doi: 10.1038/srep14035.
7
Genome Analysis of Latin American Cervical Cancer: Frequent Activation of the PIK3CA Pathway.拉丁美洲宫颈癌的基因组分析:PIK3CA 通路的频繁激活
Clin Cancer Res. 2015 Dec 1;21(23):5360-70. doi: 10.1158/1078-0432.CCR-14-1837. Epub 2015 Jun 16.
8
TP53 and PIK3CA gene mutations in adenocarcinoma, squamous cell carcinoma and high-grade intraepithelial neoplasia of the cervix.子宫颈腺癌、鳞状细胞癌及高级别上皮内瘤变中TP53和PIK3CA基因突变
J Transl Med. 2014 Sep 16;12:255. doi: 10.1186/s12967-014-0255-5.
9
MDM2 polymorphism associated with the development of cervical lesions in women infected with Human papillomavirus and using of oral contraceptives.MDM2 多态性与 HPV 感染和使用口服避孕药的女性宫颈病变的发展相关。
Infect Agent Cancer. 2014 Jul 18;9:24. doi: 10.1186/1750-9378-9-24. eCollection 2014.
10
Association of MDM2 and p53 polymorphisms with the advancement of cervical carcinoma.MDM2 和 p53 多态性与宫颈癌进展的关联。
DNA Cell Biol. 2013 Jan;32(1):19-27. doi: 10.1089/dna.2012.1718. Epub 2012 Dec 4.

菲律宾人群中PIK3CA和MDM2 SNP309与宫颈鳞状细胞癌的关联

Association of PIK3CA and MDM2 SNP309 with Cervical Squamous Cell Carcinoma in a Philippine Population.

作者信息

Tantengco Ourlad Alzeus G, Nakura Yukiko, Yoshimura Michinobu, Llamas-Clark Erlidia F, Yanagihara Itaru

机构信息

College of Medicine, University of the Philippines Manila, Manila, Philippines.

Department of Developmental Medicine, Research Institute, Osaka Women's and Children's Hospital, Izumi, Osaka, Japan.

出版信息

Asian Pac J Cancer Prev. 2019 Jul 1;20(7):2103-2107. doi: 10.31557/APJCP.2019.20.7.2103.

DOI:10.31557/APJCP.2019.20.7.2103
PMID:31350972
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6745237/
Abstract

Background: PIK3CA and MDM2 SNP309 have been studied to be associated with cervical cancer. PIK3CA mutation is associated with poor treatment response and low survival rate while MDM2 is associated with tumorigenesis and poor prognosis in cervical cancer. Thus, we determined the prevalence of PIK3CA and MDM2 mutations in Filipino cervical cancer patients. Methods: Twenty-eight formalin-fixed paraffin-embedded cervical squamous cell carcinoma and 16 non-malignant cervix tissue biopsies of Filipino patients were subjected to PIK3CA gene and MDM2 SNP309 (rs2279744) analysis. Results: PIK3CA gene was found mutated in three (10.71 %) out of 28 cervical cancer patients included in this study. Among the HPV-negative cervical cancer patients, two (28.57 %) were positive for PIK3CA mutation and only one (4.76 %) tested positive among the HPV-positive cervical cancer patients. MDM2 SNP309 analysis revealed that T allele (71.43%) was more common in cervical cancer patients compared to the control group. TG genotype (p = 0.03; OR = 0.18, 95% CI 0.04-0.76) was associated with lower rates of cervical cancer when TT genotype was used as a reference point. Conclusion: PIK3CA gene mutation was present among Filipino cervical cancer patients and not in control patients. MDM2 SNP309 analysis revealed that TG genotype has lower association to cervical cancer when compared with the TT and GG genotypes.

摘要

背景

已有研究表明PIK3CA和MDM2 SNP309与宫颈癌有关。PIK3CA突变与治疗反应差和生存率低相关,而MDM2与宫颈癌的肿瘤发生和预后不良相关。因此,我们确定了菲律宾宫颈癌患者中PIK3CA和MDM2突变的发生率。方法:对28例菲律宾患者的福尔马林固定石蜡包埋宫颈鳞状细胞癌和16例非恶性宫颈组织活检标本进行PIK3CA基因和MDM2 SNP309(rs2279744)分析。结果:本研究纳入的28例宫颈癌患者中,有3例(10.71%)发现PIK3CA基因发生突变。在HPV阴性的宫颈癌患者中,2例(28.57%)PIK3CA突变呈阳性,而在HPV阳性的宫颈癌患者中只有1例(4.76%)检测呈阳性。MDM2 SNP309分析显示,与对照组相比,T等位基因(71.43%)在宫颈癌患者中更常见。以TT基因型为参照点时,TG基因型(p = 0.03;OR = 0.18,95%CI 0.04 - 0.76)与宫颈癌发生率较低相关。结论:菲律宾宫颈癌患者中存在PIK3CA基因突变,而对照患者中未发现。MDM2 SNP309分析显示,与TT和GG基因型相比,TG基因型与宫颈癌的关联较低。