Analysis of APC, TP53, MLH1 gene mutations of colorectal cancer patients with aggravated family anamnesis
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Keywords:
colorectal cancer, APC, ТР53, MLH1, mutation, sequencing,Abstract
The results of molecular and genetic analysis of individuals with early developed colorectal cancer and aggravated family anamnesis of the genes, associated with development of hereditary syndrome and metastasis are shown here.Nucleotide sequences of «critical» segments of the APC (1286-1513 codons), TP53 (5-6 exon) and hMLH1 (8 exon) genes were analyzed by direct sequencing methods. Two nonsense nucleotide substitutions were detected in APC gene: G4479A and G1317C. Sequencing the 5-6 exon of the TP53 gene in that observed group did not show any significant changes. One variant of nucleotide substitution was detected in hMLH1 gene – G655A (Ile219Val).References
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2 http://www.onco.kz/sections/Скрининг колоректального рака в Республике Казахстан.
3 Любченко Л.Н., Клинико-генотипические варианты семейного рака толстой кишки // Практическая онкология. – 2005. – Т.6, №2. – С.132-136.
4 Fearnbead N.S., Wilding J.L., Bodmer W.F., Genetics of colorectal cancer: hereditary aspects and overview of colorectal tumorogenesis
// Br. Med. Bull. -2002. – Vol.64. – P.27-43.
5 Harris T.J., McCormick F., The molecular pathology of cancer // Nat. Rev. Clin. Oncol. – 2010. – Vol.7. – P.251–265.
6 Fearnbead N.S., Wilding J.L., Bodmer W.F., Genetics of colorectal
cancer: hereditary aspects and overview of colorectal tumorogenesis // Br. Med. Bull. – 2002. – Vol.64. – P.27-43.
7 Luo J., Solimini N.L., and Elledge S.J., Principles of Cancer herapy: Oncogene and Non-oncogene Addiction // Cell. – 2009.
– Vol.136. – P.823-837.
8 Nandan M.O. and Yang V.W., An Update on the Biology of RAS/RAF Mutations in Colorectal Cancer // Curr. Colorectal Cancer Rep. – 2011. Vol.7, N.2. – P.113–120.
9 Migliore L., Migheli F., Spisni R., and Coppede F., Genetics, cytogenetics, and epygenetics of colorectal cancer // Journal of
Biomedicine and Biotechnology. -2011. – Vol.2011. – P.19.
10 Deschoolmeester V., Baay M., Specenier P., Lardon F., Vermorken J.B., A Review of the Most Promising Biomarkers in Colorectal Cancer: One Step Closer to Targeted Therapy // The Oncologist. – 2010. – Vol.15. – P. 699–731.
11 Kostin P.A., Generozov E.V., Zakharzhevskaya N.B., Govorun V.M., Lapina T.L., Yur’yeva Ye.Yu., Sklyanskaya O.A.,. Ivashkin V.T, Mayev I.V., Lyubeznova I.J., Golubev N.N., Kucheryavy Yu.A., Spectrum of somatic mutations in APC, k-Ras and TP53 genes at the Russian patients with colorectal cancer and premalignant diseases of the large intestine // РЖГГН – 2008. – №. 4. – C. 53-62.
12 Lynch H.T. and de la C.A., Hereditary colorectal cancer // N. Engl. J. Med. -2003. – Vol. 348. – P. 919-932.
13 Umar A., Boland C.R., Terdiman J. P., Syngal S., de la C.A., Ruschoff J., Fishel R., Lindor N.M., Burgart L.J., Hamelin R., Hamilton S.R., Hiatt R. A., Jass J., Lindblom A., Lynch H. T., Peltomaki P., Ramsey S.D., Rodriguez-Bigas M.A., Vasen H.F., Hawk
E. T., Barrett J.C., Freedman A.N., and Srivastava S. Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability // J. Natl. Cancer Inst. – 2004. – Vol.96. – P. 261-268.
14 Mitchell R.J, Farrington S.M, Dunlop M.G et al., Mismatch repair genes hMLH1 and hMSH2 and colorectal cancer: a HuGE review // Am. J. Epidemiol. -2002. – Vol. 156. – P. 885-902.
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Zhunussova, G. S., Afonin, G. A., Amirgalieva, A. S., Kaidarov, B. K., Kaidarova, D. R., Khusainova, E. M., Nabieva, B. S., Djansugurova, L. B., & Parke, M. I. (2015). Analysis of APC, TP53, MLH1 gene mutations of colorectal cancer patients with aggravated family anamnesis. Experimental Biology, 60(1), 93–97. Retrieved from https://bb.kaznu.kz/index.php/biology/article/view/65
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Biomedicine
