May the APC gene somatic mutations in tumor tissues influence the clinical features of Chinese sporadic colorectal cancers?
May the APC gene somatic mutations in tumor tissues influence the clinical features of Chinese sporadic colorectal cancers?
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肿瘤组织中APC基因体细胞突变是否会影响中国散发性结直肠癌的临床特征？
DOI：
10.1080/02841860600996439
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发表时间：
2007-01
期刊：
影响因子：
3.1
通讯作者：
Wang, Yaping
中科院分区：
文献类型：
--
作者：
Uhlhaas, Siegfried;Shan, Xiangnian;Propping, Peter;Friedl, Waltraut;Li, Jintian;Liu, Xiaorong;Wang, Yaping
APC基因在大肠癌的发生发展中起重要作用。APC突变对散发性CRC临床特征的影响仍有待研究。应用DHPLC、PTT、MLPA和DNA测序等系统分析技术对43例散发性大肠癌患者APC基因进行突变筛查。43例散发性大肠癌患者中有18例发现APC基因17种不同类型的29个体细胞突变。其中，9个是新的突变。年轻大肠癌患者APC基因突变频率高于老年大肠癌患者。在4例具有侵袭性的结直肠癌患者中发现APC基因的体细胞突变。在43例大肠癌组织中发现5例APC基因无义突变Arg1114X。在有这种突变的CRC患者中发现了更高的癌症转移率。APC基因的体细胞突变可能影响散发性大肠癌的临床特征。APC基因Arg1114X突变是中国人大肠癌的热点突变，可能与散发性大肠癌的转移有关。
The APC gene plays an important role in colorectal carcinogenesis. The impact of APC mutations on the clinical features in sporadic CRC remains to be uncovered. The APC gene was screened for mutations with systematic analysis techniques including DHPLC, PTT, MLPA and DNA sequencing in 43 Chinese sporadic CRC patients. Twenty nine somatic mutations (in 17 different types) in APC gene were found in 18 of 43 sporadic CRC patients. Of those, nine were novel mutations. Higher frequency of somatic APC mutations was found in younger CRC patients than that in elder ones. The biallelic somatic mutations of APC gene were identified in four CRC patients whose tumors had more invasive clinical features. The nonsense mutation Arg1114X in APC gene was found in five of 43 CRC tumor tissues. A higher cancer metastasis rate was uncovered in CRC patients with this mutation. The somatic mutations of APC gene may influence the clinical features of sporadic CRC. Arg1114X in APC gene, as a hot spot mutation in Chinese CRC, may predispose to the cancer metastasis of sporadic CRC.
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影响因子：
9.8
作者：
Soravia, C;Berk, T;Bapat, B
通讯作者：
Bapat, B
影响因子：
64.5
作者：
GRODEN, J;THLIVERIS, A;WHITE, R
通讯作者：
WHITE, R
影响因子：
168.9
作者：
CASPARI, R;FRIEDL, W;PROPPING, P
通讯作者：
PROPPING, P
影响因子：
3.9
作者：
Nagase, Hiroki;Miyoshi, Yasuo;Nakamura, Yusuke
通讯作者：
Nakamura, Yusuke
影响因子：
3.9
作者：
M. St‐Louis;R. Tanguay
通讯作者：
M. St‐Louis;R. Tanguay