Frameshift mutations at mononucleotide repeats in RAD50 recombinational DNA repair gene in colorectal cancers with microsatellite instability - PubMed (original) (raw)
doi: 10.1111/j.1349-7006.2001.tb01134.x.
G Togo, K Nagai, H Ijichi, J Kato, Y Yamaji, M Okamoto, N Kato, T Kawabe, A Tanaka, M Matsumura, Y Shiratori, M Omata
Affiliations
- PMID: 11429044
- PMCID: PMC5926751
- DOI: 10.1111/j.1349-7006.2001.tb01134.x
Frameshift mutations at mononucleotide repeats in RAD50 recombinational DNA repair gene in colorectal cancers with microsatellite instability
T Ikenoue et al. Jpn J Cancer Res. 2001 Jun.
Abstract
To identify additional genes targeted for microsatellite instability (MSI), we search for human genes which contain mononucleotide repeats in their coding region, selected 7 genes (RAD50, DNA-PKcs, FLASH, Apaf-1, XPG, CtIP, and MLSN1), and analyzed frameshift mutations in them. Here we report that 60% (3 out of 5) of human colorectal cancer cell lines exhibiting a high frequency of MSI (MSI-H) and 46% (6 out of 13) of MSI-H primary colorectal tumors had mutations in the (A)9 repeat of RAD50 recombinational repair gene. In contrast, no frameshift mutations were found in any of the 5 MSI-negative colorectal cancer cell lines, 8 colorectal tumors exhibiting a low frequency of MSI (MSI-L), or 28 MSI-negative colorectal tumors. No mutations were found in the mononucleotide repeats of 6 other genes, even in MSI-H cancers. These results suggest that RAD50 frameshift mutations may play a role in the tumorigenesis of MSI-H colorectal cancers.
Similar articles
- Frameshift mutations at coding mononucleotide repeats of the hRAD50 gene in gastrointestinal carcinomas with microsatellite instability.
Kim NG, Choi YR, Baek MJ, Kim YH, Kang H, Kim NK, Min JS, Kim H. Kim NG, et al. Cancer Res. 2001 Jan 1;61(1):36-8. Cancer Res. 2001. PMID: 11196187 - Intratumoral Heterogeneity of Frameshift Mutations in MECOM Gene is Frequent in Colorectal Cancers with High Microsatellite Instability.
Choi EJ, Kim MS, Song SY, Yoo NJ, Lee SH. Choi EJ, et al. Pathol Oncol Res. 2017 Jan;23(1):145-149. doi: 10.1007/s12253-016-0112-3. Epub 2016 Sep 13. Pathol Oncol Res. 2017. PMID: 27620344 - Quasimonomorphic mononucleotide repeats for high-level microsatellite instability analysis.
Buhard O, Suraweera N, Lectard A, Duval A, Hamelin R. Buhard O, et al. Dis Markers. 2004;20(4-5):251-7. doi: 10.1155/2004/159347. Dis Markers. 2004. PMID: 15528790 Free PMC article. Review. - Slip slidin' away: a duodecennial review of targeted genes in mismatch repair deficient colorectal cancer.
Røyrvik EC, Ahlquist T, Rognes T, Lothe RA. Røyrvik EC, et al. Crit Rev Oncog. 2007 Dec;13(3):229-57. doi: 10.1615/critrevoncog.v13.i3.20. Crit Rev Oncog. 2007. PMID: 18298386 Review.
Cited by
- Analysis of the beta-catenin/T cell factor signaling pathway in 36 gastrointestinal and liver cancer cells.
Ikenoue T, Ijichi H, Kato N, Kanai F, Masaki T, Rengifo W, Okamoto M, Matsumura M, Kawabe T, Shiratori Y, Omata M. Ikenoue T, et al. Jpn J Cancer Res. 2002 Nov;93(11):1213-20. doi: 10.1111/j.1349-7006.2002.tb01226.x. Jpn J Cancer Res. 2002. PMID: 12460462 Free PMC article. - Modeling variation in tumors in vivo.
Stringer JR, Larson JS, Fischer JM, Medvedovic M, Hersh MN, Boivin GP, Stringer SL. Stringer JR, et al. Proc Natl Acad Sci U S A. 2005 Feb 15;102(7):2408-13. doi: 10.1073/pnas.0401340102. Epub 2005 Feb 3. Proc Natl Acad Sci U S A. 2005. PMID: 15695337 Free PMC article. - Prognostic value of CtIP/RBBP8 expression in breast cancer.
Soria-Bretones I, Sáez C, Ruíz-Borrego M, Japón MA, Huertas P. Soria-Bretones I, et al. Cancer Med. 2013 Dec;2(6):774-83. doi: 10.1002/cam4.141. Epub 2013 Oct 3. Cancer Med. 2013. PMID: 24403251 Free PMC article. - Screening for microsatellite instability target genes in colorectal cancers.
Vilkki S, Launonen V, Karhu A, Sistonen P, Västrik I, Aaltonen LA. Vilkki S, et al. J Med Genet. 2002 Nov;39(11):785-9. doi: 10.1136/jmg.39.11.785. J Med Genet. 2002. PMID: 12414815 Free PMC article. - Gynecological Cancers Caused by Deficient Mismatch Repair and Microsatellite Instability.
Deshpande M, Romanski PA, Rosenwaks Z, Gerhardt J. Deshpande M, et al. Cancers (Basel). 2020 Nov 10;12(11):3319. doi: 10.3390/cancers12113319. Cancers (Basel). 2020. PMID: 33182707 Free PMC article. Review.
References
- Ionov , Y. , Peinado , M. A. , Malkhosyan , S. , Shibata , D. and Perucho , M.Ubiquitous somatic mutations in simple repeated sequences reveal a new mechanism for colonic carcinogenesis . Nature , 363 , 558 – 561 ( 1993. ). - PubMed
- Kolodner , R.Mismatch repair: mechanisms and relationship to cancer susceptibility . Trends. Biochem. Sci. , 20 , 397 – 401 ( 1995. ). - PubMed
- Aaltonen , L. A. , Peltomaki , P. , Leach , F. S. , Sistonen , P. , Pylkkanen , L. , Mecklin , J. P. , Javinen , H. , Powell , S. M. , Jen , J. , Hamilton , S. R. , Petersen , G. M. , Kinzler , K. W. , Vogelstein , B. and Chapelle , A.Clues to the pathogenesis of familial colorectal cancer . Science , 260 , 812 – 816 ( 1993. ). - PubMed
- Thibodeau , S. N. , Bren , G. and Schaid , D.Microsatellite instability in cancer of the proximal colon . Science , 260 , 816 – 819 ( 1993. ). - PubMed
- Markowitz , S. D. , Wang , J. , Myeroff , L. , Parsons , R. , Sun , L. , Lutterbaugh , J. , Fan , R. S. , Zborowska , E. , Kinzler , K. W. , Vogelstein , B. , Brattain , M. and Wilson , J. K. V.Inactivation of the type II TGF‐beta receptor in colon cancer cells with microsatellite instability . Science , 268 , 1336 – 1338 ( 1995. ). - PubMed
MeSH terms
Substances
LinkOut - more resources
Full Text Sources
Medical
Research Materials
Miscellaneous