Mutational analysis of TGF-β type II receptor, Smad2, Smad3, Smad4, Smad6 and Smad7 genes in colorectal cancer

被引：0
|
作者：
Fukushima, T [1 ]
Mashiko, M [1 ]
Takita, K [1 ]
Otake, T [1 ]
Endo, Y [1 ]
Sekikawa, K [1 ]
Takenoshita, S [1 ]
机构：
[1] Fukushima Med Univ, Sch Med, Dept Surg 2, Fukushima 9601295, Japan
来源：
JOURNAL OF EXPERIMENTAL & CLINICAL CANCER RESEARCH | 2003年 / 22卷 / 02期
关键词：
TGF-beta; Smad; colorectal cancer;
D O I：
暂无
中图分类号：
R73 [肿瘤学];
学科分类号：
100214 ;
摘要：
Transforming growth factor-beta(TGF-beta) is known to play an important role in controlling embryonal development, cell proliferation and homeostasis. The purpose of this study is to elucidate the involvement of the TGF-beta pathway in colorectal carcinogenesis. DNA was extracted from 100 patients with colorectal cancer. Then, all coding regions of the TGF-beta type II receptor (TRII) and the genes for Smad2, Smad3, Smad4, Smad6, and Smad7 were analyzed by PCR-SSCP and direct sequencing. Also, a LOH analysis of 18q21, where the Smad2 and Smad4 genes are located, was performed. We detected 11 cases of frameshift mutation in the TRII gene (11%) and 5 cases of point mutations in the Smad4 gene (5.0%); LOH at 18q21 was detected with 33% frequency. No abnormalities were found in the genes for Smad2, Smad3, Smad6, and Smad7. These results suggest that the abnormalities of TRII and Smad4 play an important role inhibiting TGF-beta signaling in colorectal carcinogenesis.
引用
收藏
页码：315 / 320
页数：6
相关论文
共 50 条
  • [1] Mutation analysis of transforming growth factor β type II receptor, Smad2, Smad4, Smad6 and Smad7 in hepatocellular carcinoma
    Kawate, S
    Ohwada, S
    Takeyoshi, I
    Kawashima, Y
    Ogawa, T
    Iwazaki, S
    Nakasone, Y
    Koyama, T
    Sunose, Y
    Mogi, A
    Shitara, Y
    Takenoshita, S
    [J]. GASTROENTEROLOGY, 1999, 116 (04) : A434 - A435
  • [2] SMAD2, SMAD3 and SMAD4 Mutations in Colorectal Cancer
    Fleming, Nicholas I.
    Jorissen, Robert N.
    Mouradov, Dmitri
    Christie, Michael
    Sakthianandeswaren, Anuratha
    Palmieri, Michelle
    Day, Fiona
    Li, Shan
    Tsui, Cary
    Lipton, Lara
    Desai, Jayesh
    Jones, Ian T.
    McLaughlin, Stephen
    Ward, Robyn L.
    Hawkins, Nicholas J.
    Ruszkiewicz, Andrew R.
    Moore, James
    Zhu, Hong-Jian
    Mariadason, John M.
    Burgess, Antony W.
    Busam, Dana
    Zhao, Qi
    Strausberg, Robert L.
    Gibbs, Peter
    Sieber, Oliver M.
    [J]. CANCER RESEARCH, 2013, 73 (02) : 725 - 735
  • [3] Developmentally regulated expression of Smad3, Smad4, Smad6, and Smad7 involved in TGF-beta signaling
    Luukko, K
    Ylikorkala, A
    Mäkelä, TP
    [J]. MECHANISMS OF DEVELOPMENT, 2001, 101 (1-2) : 209 - 212
  • [4] Differential regulation of TGF-β signaling through Smad2, Smad3 and Smad4
    Kretschmer, A
    Moepert, K
    Dames, S
    Sternberger, M
    Kaufmann, J
    Klippel, A
    [J]. ONCOGENE, 2003, 22 (43) : 6748 - 6763
  • [5] Differential regulation of TGF-β signaling through Smad2, Smad3 and Smad4
    Anny Kretschmer
    Kristin Moepert
    Sibylle Dames
    Maria Sternberger
    Joerg Kaufmann
    Anke Klippel
    [J]. Oncogene, 2003, 22 : 6748 - 6763
  • [6] Mutation analysis of transforming growth factor beta type I receptor, type II receptor, Smad2, Smad4, Smad6 and Smad7 in hepatocellular carcinoma.
    Kawate, S
    Ohwada, S
    Kunihiro, H
    Koyama, T
    Sakamoto, I
    Yoshinari, D
    Kasahara, M
    Tomizawa, N
    Kawashima, Y
    Takeyoshi, I
    Morishita, Y
    [J]. GASTROENTEROLOGY, 2000, 118 (04) : A1456 - A1456
  • [7] Mutational analysis of the Smad6 and Smad7 genes in hepatocellular carcinoma
    Kawate, S
    Ohwada, S
    Hamada, K
    Koyama, T
    Takenoshita, S
    Morishita, Y
    Hagiwara, K
    [J]. INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE, 2001, 8 (01) : 49 - 52
  • [8] Mutation analysis of SMAD2, SMAD3, and SMAD4 genes in hereditary non-polyposis colorectal cancer
    Roth, S
    Johansson, M
    Loukola, A
    Peltomäki, P
    Järvinen, H
    Mecklin, JP
    Aaltonen, LA
    [J]. JOURNAL OF MEDICAL GENETICS, 2000, 37 (04) : 298 - 300
  • [9] TGF-β-induced nuclear localization of Smad2 and Smad3 in Smad4 null cancer cell lines
    Fink, SP
    Mikkola, D
    Willson, JKV
    Markowitz, S
    [J]. ONCOGENE, 2003, 22 (09) : 1317 - 1323
  • [10] TGF-β-induced nuclear localization of Smad2 and Smad3 in Smad4 null cancer cell lines
    Stephen P Fink
    Debra Mikkola
    James K V Willson
    Sanford Markowitz
    [J]. Oncogene, 2003, 22 : 1317 - 1323
12345