MTHFR polymorphisms as prognostic factors in sporadic colorectal cancer.

作者: Lucia Procopciuc , Gelu Osian , Liviu Vlad

DOI:

关键词:

摘要: AIM Theoretically, individuals having at least one mutant allele present a modified activity of the MTHFR enzyme and low methylation, DNA synthesis-repair respectively, which could imply higher risk colorectal cancer. The purpose this study was to investigate relations these mutations with clinico-pathological aspects MATERIAL AND METHOD included 69 patients sporadic relative in homozygous normal for C667T A1298C, heterozygous allele, calculated. RESULTS A1298C represent factor cancer an OR (odds ratio) = 2.13 (CI (0.51-8.91)) 3 (CI(0.3-29.58), patients. These are associated more frequent location lesions colon level, OR=2.3 2.15 respectively. incidence mutation stage N0 than N+ (p<0.05), pT2 vs. pT3 as well Dukes stages B D A or C (p<0.05). CONCLUSIONS results obtained support hypothesis increased prevalence gene mutations. develop frequently, they lymph node invasion rarely, often distant metastases.

参考文章(40)
Jeremy R. Jass, Vicki L. J. Whitehall, Barbara A. Leggett, Joanne Young, Michael D. Walsh, Methylation of O-6-methylguanine DNA methyltransferase characterizes a subset of colorectal cancer with low-level DNA microsatellite instability. Cancer Research. ,vol. 61, pp. 827- 830 ,(2001)
Loïc Le Marchand, Timothy Donlon, Jean H. Hankin, Laurence N. Kolonel, Lynne R. Wilkens, Ann Seifried, B-vitamin intake, metabolic genes, and colorectal cancer risk (United States). Cancer Causes & Control. ,vol. 13, pp. 239- 248 ,(2002) , 10.1023/A:1015057614870
Isabelle Morin, Nelly Sabbaghian, Gerald Batist, Rima Rozen, Valerie Panet-Raymond, Victor Cohen, Methylenetetrahydrofolate reductase polymorphism in advanced colorectal cancer: a novel genomic predictor of clinical response to fluoropyrimidine-based chemotherapy. Clinical Cancer Research. ,vol. 9, pp. 1611- 1615 ,(2003)
Eoin P. Quinlivan, Steven R. Davis, Karla P. Shelnutt, George N. Henderson, Haifa Ghandour, Barry Shane, Jacob Selhub, Lynn B. Bailey, Peter W. Stacpoole, Jesse F. Gregory, Methylenetetrahydrofolate Reductase 677C→T Polymorphism and Folate Status Affect One-Carbon Incorporation into Human DNA Deoxynucleosides Journal of Nutrition. ,vol. 135, pp. 389- 396 ,(2005) , 10.1093/JN/135.3.389
Jia Chen, Edward Giovannucci, Karl Kelsey, Eric B Rimm, Meir J Stampfer, Graham A Colditz, Donna Spiegelman, Walter C Willett, David J Hunter, None, A Methylenetetrahydrofolate Reductase Polymorphism and the Risk of Colorectal Cancer Cancer Research. ,vol. 56, pp. 4862- 4864 ,(1996)
Ilan Weisberg, Pamela Tran, Benedicte Christensen, Sahar Sibani, Rima Rozen, A Second Genetic Polymorphism in Methylenetetrahydrofolate Reductase (MTHFR) Associated with Decreased Enzyme Activity Molecular Genetics and Metabolism. ,vol. 64, pp. 169- 172 ,(1998) , 10.1006/MGME.1998.2714
Jennifer L Counts, Jay I Goodman, Hypomethylation of DNA: a nongenotoxic mechanism involved in tumor promotion. Toxicology Letters. pp. 663- 672 ,(1995) , 10.1016/0378-4274(95)03512-5
B.C. Blount, B.N. Ames, Analysis of uracil in DNA by gas chromatography-mass spectrometry Analytical Biochemistry. ,vol. 219, pp. 195- 200 ,(1994) , 10.1006/ABIO.1994.1257
Maria Schroeder, Marc J. Mass, CpG methylation inactivates the transcriptional activity of the promoter of the human p53 tumor suppressor gene Biochemical and Biophysical Research Communications. ,vol. 235, pp. 403- 406 ,(1997) , 10.1006/BBRC.1997.6796