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《Chongqing Medicine》 2017-02
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Study on analysis of synonymous mutation SNPs of APC gene in pathogenesis of familial adenomatous polyposis by bioinformatics technology

Yang Jun;Liu Weiqing;Li Wenliang;Wang Zhiqiang;Dong Jian;Department of Oncology,First Affiliated Hospital of Kunming Medical University;Department of Medical Oncology,First Affiliated Hospital,Kunming Medical University;Department of Medical Oncology,Third Affiliated Hospital of Kunming Medical University;  
Objective To analyze the synonymous mutation SNP(sSNP)of APC gene in the pathogenesis of familial adenomatous polyposis(FAP)by applying the bioinformatics technology.Methods Five samples of FAP tissue were selected from the Yunan provincial hereditary colorectal cancer tissue samples bank and performed the contrastive analysis of APC gene mutations.The screened sSNP were conducted the bioinformatics prediction,including protein coding,splicing regulation,transcriptional regulation,post-translation regulation and influence on RNA secondary sructure.Results Five sSNPs possibly affecting APC protein were screened out.The bioinformatics prediction prompted that these sSNP affected the exon splicing enhancer(ESE)at mRNA level,thus caused the abnormal shear of APC exon,and then truncated APC protein to result in FAP.The RNA secondary structure analysis found that these sSNP generated the functional impacts on RNA stability and interaction with other RNA or protein.Conclusion Through bioinformatics prediction means,the mutation effect caused by some sSNP in APC gene could explain the etiology of partial APC(-)/FAP.
【Fund】: 国家自然科学基金资助项目(81160245);; 云南省教育厅科学研究基金资助项目(2015Y177)
【CateGory Index】: R735.34
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【References】
Chinese Journal Full-text Database 1 Hits
1 ZENG Xiaofeng;HUANG Jin;NIU Weiyi;LIU Daizhong;WANG Weifa;ZHANG Rui;Department of General Surgery,the Seventh People's Hospital of Chengdu;;Effect of laparoscopic total proctocolectomy on postoperative intestinal function in patients with familial adenomatous polyposis[J];微创医学;2018-01
【Citations】
Chinese Journal Full-text Database 3 Hits
1 Jun Yang;Wei-Qing Liu;Wen-Liang Li;Cheng Chen;Zhu Zhu;Zhi-Qiang Wang;Jian Dong;Department of Oncology, the First Affiliated Hospital of Kunming Medical University;Department of Internal Medicine-Oncology, the First Affiliated Hospital of Kunming Medical University;;Detection of APC, MYH and AXIN2 gene mutations for screening germline mutations predisposing to familial adenomatous polyposis[J];世界华人消化杂志;2015-04
2 Ming-Qing Chen, Cancer Center, the First Affiliated Hospital of Kunming Medical College, Kunming 650032, Yunnan Province, China Zhu Zhu, Jun Yang, Hong-Bing Zhang, Jian Dong, Biotherapy Center, the First Affiliated Hospital of Kunming Medical College, Kunming 650032, Yunnan Province, China Li-Ping Dai, Department of Pathology, Dali People’s Hospital, Dali 671000, Yunnan Province, China Wan-Li Wei, Department of Pathology, Third Affiliated Hospital of Kunming Medical College, Kunming 650106, Yunnan Province, China;Establishment and management of hereditary colorectal cancer tissue bank in Yunnan province[J];世界华人消化杂志;2008-27
3 ;中国人遗传性大肠癌筛检标准的实施方案[J];中华肿瘤杂志;2004-03
【Co-citations】
Chinese Journal Full-text Database 6 Hits
1 ZHOU Yong-ming;LI Wen-liang;Dept. of Oncology,The 1st Affiliated Hospital of Kunming Medical University;;The Progress in the Clinical Research of Lynch Syndrome[J];昆明医科大学学报;2018-04
2 Yuan Ying;Genetics Group of the Committee of Colorectal Cancer,China Anticancer Association;;The Chinese expert consensus on clinical diagnosis,treatment and pedigree management of hereditary colorectal cancer[J];实用肿瘤杂志;2018-01
3 Gu Guoli;Duan Fuxiao;Yang Hairui;Department of General Surgery,Air Force General Hospital of Chinese PLA;;Clinical and pathological features of Peutz-Jeghers syndrome[J];中华临床医师杂志(电子版);2018-01
4 TIAN Lin;Department of General Surgery,Panyu Hospital of Chinese Medicine;;Clinical characteristics of Lynch syndrome-associated colorectal tumorigenesis[J];岭南现代临床外科;2017-04
5 Zhang Kun;Guo Hongyan;Han Jinsong;Department of Gynecology,Peking University Third Hospital;;Clinical Characteristics of Recurrent Endometrial Carcinoma:Report of 22 Cases[J];中国微创外科杂志;2017-06
6 Zeng Zhen;Dong Ying;Zhang Yan;Department of Obstetrics and Gynecology,Peking University First Hospital;Department of Pathology,Peking University First Hospital;;The MMR(Mismatch repair) protein deficiency in endometrial carcinoma:the significance in the detection of Lynch syndrome and the correlation with clinical and pathological characteristics[J];现代妇产科进展;2017-04
【Co-references】
Chinese Journal Full-text Database 5 Hits
1 Yang Jun;Liu Weiqing;Li Wenliang;Wang Zhiqiang;Dong Jian;Department of Oncology,First Affiliated Hospital of Kunming Medical University;Department of Medical Oncology,First Affiliated Hospital,Kunming Medical University;Department of Medical Oncology,Third Affiliated Hospital of Kunming Medical University;;Study on analysis of synonymous mutation SNPs of APC gene in pathogenesis of familial adenomatous polyposis by bioinformatics technology[J];重庆医学;2017-02
2 TANG Siwen;Department of Anus and Intestine Surgery,Second Hospital of Heilongjiang Province;;Clinical Analysis of Laparoscopic Assisted Total Colorectal Resection in the Treatment of Patients With Familial Adenoma[J];中国卫生标准管理;2016-12
3 FAN Renyu;XU Jianming;Department of Gastroenterology,the First Affiliated Hospital of Anhui Medical University;;A clinical study on risk factors of colorectal cancer from familial adenomatous polyposis[J];安徽医学;2016-03
4 Zhang Zhao;Wang Dan;Xu Bin;Yu Lin;Fu Wenzheng;Zhang Xipeng;Department of Anorectal Surgery of Tianjin Union Hospital;;Laparoscopic assisted total colorectal resection for familial adenomatous polyposis[J];中华普通外科杂志;2015-09
5 Zhang Min;Lan Fenghua;Center for Molecular Diagnosis of Genetic Diseases,Fuzong Clinical College of Fujian Medical University;;The advances of familial adenomatous polyposis[J];国际遗传学杂志;2014-02
【Secondary Citations】
Chinese Journal Full-text Database 9 Hits
1 ZHU Zhu1,HUANG Jian1,Dong Jian2,et al(1.Cancer Center,The 1st Affiliated Hospital of Kunming Medical University,Kunming 650032,Yunnan,China; 2.Biotherapy Center,The 1st Affiliated Hospital of Kunming Medical University,Kunming 650032,Yunnan,China);Analysis of APC mutation in five kindreds of familial adenomatous polyposis[J];西部医学;2012-09
2 Jian-Qiu Sheng,Lei Fu,Peng Jin,Ying Han,Shu-Jun Li,Ru-Ying Fan,Ai-Qin Li,Shi-Rong Li,Department of Gastroenterology,General Hospital of Beijing Military Region,Beijing 100700,China Wei-Jia Cui,Ming-Zhi Zhang,Department of Oncology,The First Affiliated Hospital of Zhengzhou University,Zhengzhou 450052,Henan Province,China;APC gene mutations in Chinese familial adenomatous polyposis patients[J];World Journal of Gastroenterology;2010-12
3 Ming-Qing Chen, Cancer Center, the First Affiliated Hospital of Kunming Medical College, Kunming 650032, Yunnan Province, China Zhu Zhu, Jun Yang, Hong-Bing Zhang, Jian Dong, Biotherapy Center, the First Affiliated Hospital of Kunming Medical College, Kunming 650032, Yunnan Province, China Li-Ping Dai, Department of Pathology, Dali People’s Hospital, Dali 671000, Yunnan Province, China Wan-Li Wei, Department of Pathology, Third Affiliated Hospital of Kunming Medical College, Kunming 650106, Yunnan Province, China;Establishment and management of hereditary colorectal cancer tissue bank in Yunnan province[J];世界华人消化杂志;2008-27
4 Janos Papp,Marietta E Kovacs,Edith Olah,Department of Molecular Genetics,National Institute of Oncology,Rath Gy. u. 7-9,H-1122 Budapest,Hungary;Germline MLH1 and MSH2 mutational spectrum including frequent large genomic aberrations in Hungarian hereditary non-polyposis colorectal cancer families:Implications for genetic testing[J];World Journal of Gastroenterology;2007-19
5 WAN Tao, ZHOU Ning-xin, HUANG Zhi-qiang. Institute of Hepatobiliary Surgery of P.L.A., Department of Hepatobiliary Surgery of General Hospital of P.L.A., Beijing 100853, China;Establishment and Identification of a Novel Fresh Tissue Bank of Biliary Tract Carcinoma[J];中国普外基础与临床杂志;2005-04
6 LI Lihua *, WEI Fuxing, WANG Feng, XU Yuanhong, GONG Peijuan (Wuxi No.4 People's Hospital Affiliated to Suzhou University Wuxi City Cancer Institute, Wuxi 214062, China);Establishment and management of tumor bank applied for molecular biological researches[J];肿瘤;2004-06
7 MA Zong-Yuan, LI Qi-Fu*(Laboratory of Cell Biology, College of Life Science, Xiamen University, Xiamen 361005, China);The structure feature of APC and its relationship to cytoskeleton[J];生命科学;2004-01
8 Ye Tiezhen, et al Dep artment of pediatricg, Guangzhou medical Colleage.;THE CONSTRUCTION AND APPLICATION OF CHILDREN'S TUMOR SAMPLE INFORMATION ADMINIST RATION[J];中国小儿血液;2003-04
9 DONG Zhi_wei1,QIAO You_lin1,LI Lian_di2,et al.(1.Cancer Institute,CAMS,Beijing 100021,China;2.The National Cancer Research and Control Office,Beijing 100021,China);Report of Chinese Cancer Control Strategy[J];中国肿瘤;2002-05
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