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本文引用的文献

1
Telomere erosion is independent of microsatellite instability but related to loss of heterozygosity in gastric cancer.端粒缩短与微卫星不稳定性无关,但与胃癌中的杂合性缺失有关。
World J Gastroenterol. 2001 Aug;7(4):522-6. doi: 10.3748/wjg.v7.i4.522.
2
Microsatellite instability, MMR gene expression and proliferation kinetics in colorectal cancer with famillial predisposition.具有家族易感性的结直肠癌中的微卫星不稳定性、错配修复基因表达及增殖动力学
World J Gastroenterol. 2000 Dec;6(6):902-905. doi: 10.3748/wjg.v6.i6.902.
3
Increased beta-catenin mRNA levels and mutational alterations of the APC and beta-catenin gene are present in intestinal-type gastric cancer.肠型胃癌中存在β-连环蛋白mRNA水平升高以及APC和β-连环蛋白基因的突变改变。
Carcinogenesis. 2002 Jan;23(1):87-91. doi: 10.1093/carcin/23.1.87.
4
Evidence that APC regulates survivin expression: a possible mechanism contributing to the stem cell origin of colon cancer.APC调节生存素表达的证据:一种可能导致结肠癌干细胞起源的机制。
Cancer Res. 2001 Dec 15;61(24):8664-7.
5
The role of mutant Apc in the development of dysplasia and cancer in the mouse model of dextran sulfate sodium-induced colitis.突变型Apc在葡聚糖硫酸钠诱导的小鼠结肠炎模型中发育异常和癌症发生中的作用。
Gastroenterology. 2001 Dec;121(6):1407-16. doi: 10.1053/gast.2001.29609.
6
Distinctive molecular genetic alterations in sporadic and familial adenomatous polyposis-associated pancreatoblastomas : frequent alterations in the APC/beta-catenin pathway and chromosome 11p.散发性和家族性腺瘤性息肉病相关的胰腺母细胞瘤中的独特分子遗传学改变:APC/β-连环蛋白途径和11号染色体p臂频繁改变
Am J Pathol. 2001 Nov;159(5):1619-27. doi: 10.1016/s0002-9440(10)63008-8.
7
Inactivation of the E-cadherin gene in sporadic diffuse-type gastric cancer.散发性弥漫型胃癌中E-钙黏蛋白基因的失活
Mod Pathol. 2001 Oct;14(10):942-9. doi: 10.1038/modpathol.3880416.
8
Absence of microsatellite instability and germline mutations of E-cadherin, APC and p53 genes in Japanese familial gastric cancer.日本家族性胃癌中微卫星不稳定性及E-钙黏蛋白、APC和p53基因种系突变的缺失
Tumour Biol. 2001 Jul-Aug;22(4):262-8. doi: 10.1159/000050625.
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Genetic alterations in gastric cancers from British patients.
Cancer Genet Cytogenet. 2001 Apr 15;126(2):111-9. doi: 10.1016/s0165-4608(00)00397-6.
10
Causes of microsatellite instability in colorectal tumors: implications for hereditary non-polyposis colorectal cancer screening.结直肠癌中微卫星不稳定性的原因:对遗传性非息肉病性结直肠癌筛查的意义。
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微卫星不稳定型胃癌中APC基因的突变分析

Mutation analysis of APC gene in gastric cancer with microsatellite instability.

作者信息

Fang Dian-Chun, Luo Yuan-Hui, Yang Shi-Ming, Li Xiao-An, Ling Xian-Long, Fang Li

机构信息

Department of Gastroenterology, Southwest Hospital, Third Military Medical University, Chongqing 400038, China.

出版信息

World J Gastroenterol. 2002 Oct;8(5):787-91. doi: 10.3748/wjg.v8.i5.787.

DOI:10.3748/wjg.v8.i5.787
PMID:12378616
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4656562/
Abstract

AIM

To evaluate the role of APC mutation in gastric carcinogenesis and to correlate APC mutation with microsatellite instability (MSI) in gastric carcinomas.

METHODS

APC mutation was measured with multiplex PCR, denaturing gradient gel electrophoresis and DNA sequencing; and MSI was analyzed by PCR-based methods.

RESULTS

Sixty-eight cases of sporadic gastric carcinoma were studied for APC mutation at exon 15 and MSI. APC mutations were detected in 15(22.1 %) gastric cancers. Frequence of APC mutation (33.3 %) in intestinal type of gastric cancer was significantly higher than that in diffuse type (13.1 %, P<0.05). On the contrary, no association was observed between APC mutation and tumor size, differentiation, depth of invasion, metastasis or clinical stages. Using five microsatellite markers, MSI in at least one locus was detected in 17 of 68 (25 %) of the tumors analyzed. APC mutations were all detected in MSI-L (only one locus, n=9) or MSS(tumor lacking MSI or stable, n=51), but no mutation was found in MSI-H (> or =2 loci, n=8).

CONCLUSION

APC mutation is involved in carcinogenesis of intestinal type of gastric cancer and is independent of MSI phenotype but related to the LOH pathway in gastric cancer.

摘要

目的

评估APC突变在胃癌发生中的作用,并将胃癌中的APC突变与微卫星不稳定性(MSI)相关联。

方法

采用多重PCR、变性梯度凝胶电泳和DNA测序检测APC突变;采用基于PCR的方法分析MSI。

结果

对68例散发性胃癌进行了第15外显子APC突变及MSI研究。15例(22.1%)胃癌检测到APC突变。肠型胃癌的APC突变频率(33.3%)显著高于弥漫型(13.1%,P<0.05)。相反,未观察到APC突变与肿瘤大小、分化程度、浸润深度、转移或临床分期之间存在关联。使用5个微卫星标记,在68例分析的肿瘤中有17例(25%)在至少一个位点检测到MSI。APC突变均在MSI-L(仅一个位点,n=9)或MSS(肿瘤缺乏MSI或稳定,n=51)中检测到,但在MSI-H(≥2个位点,n=8)中未发现突变。

结论

APC突变参与肠型胃癌的发生,与MSI表型无关,但与胃癌的杂合性缺失途径相关。