MUC gene abnormalities in sporadic and hereditary mucinous colon cancers with microsatellite instability.
MUC gene abnormalities in sporadic and hereditary mucinous colon cancers with microsatellite instability.
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DOI：
10.1155/2005/370908
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发表时间：
2005
期刊：
影响因子：
--
通讯作者：
Viel A
中科院分区：
文献类型：
--
作者：
Pastrello C;Santarosa M;Fornasarig M;Sigon R;Perin T;Giannini G;Boiocchi M;Viel A
本研究的目的是验证产生粘蛋白的结肠癌 (CRC) 是否可以通过涉及微卫星不稳定性 (MSI) 和 MUC 基因改变的分子途径发生发展。在表达不同量粘蛋白的 49 个 CRC 中，22 个 (44.9%) 为 MSI-H，5 个 (10.2%) 为 MSI-L。通过Southern印迹分析MUC基因，在MUC2（5例）和MUC5AC（2例）的可变数目串联重复（VNTR）区域中存在明显的额外条带，但在MUC1和MUC4基因中没有明显的条带。由于在 6 个 MSI-H 和 1 个 MSI-L 肿瘤中检测到体细胞 VNTR 异常，它们似乎是错配修复缺陷 CRC 所特有的。我们的研究结果表明，结构正常的 MUC 基因的改变和/或丢失可能是 CRC 子集的肿瘤分子途径中的重要一步，并且涉及 VNTR 重复序列的突变可能作为低效 MMR 系统的直接和/或间接结果存在于 MSI 肿瘤中。
Aim of this study was verifying whether mucin producing colon cancers (CRCs) could develop through a molecular pathway involving microsatellite instability (MSI) and MUC gene alterations. Out of 49 CRCs expressing variable amounts of mucin, 22 (44.9%) were MSI-H and 5 (10.2%) were MSI-L. MUC genes were analyzed by Southern blotting and extra bands were evident in the Variable Number Tandem Repetition (VNTR) regions of MUC2 (5 cases) and MUC5AC (2 cases), but not MUC1 and MUC4 genes. Since the somatic VNTR abnormalities were detected in 6 MSI-H and in 1 MSI-L tumors, they seem to be peculiar of mismatch repair defective CRCs. Our finding suggests that alteration and/or loss of structurally normal MUC genes may be an important step in the neoplastic molecular pathway of a subset of CRCs and that mutations involving VNTR repetitive sequences may exist in MSI tumors as a direct and/or indirect consequence of an inefficient MMR system.
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DOI：
10.1073/pnas.2334585100
发表时间：
2003-12-09
影响因子：
11.1
作者：
Cortellino, S;Turner, D;Bellacosa, A
通讯作者：
Bellacosa, A
影响因子：
5.3
作者：
Elliott, B;Jasin, M
通讯作者：
Jasin, M
影响因子：
3.5
作者：
Mohindra, A;Hays, LE;Meuth, M
通讯作者：
Meuth, M
影响因子：
56.9
作者：
Velcich, A;Yang, WC;Augenlicht, L
通讯作者：
Augenlicht, L
影响因子：
3.1
作者：
RADMAN, M
通讯作者：
RADMAN, M