nach oben

Pathology & Oncology Research

Erschienen in:

01.09.2015 | Research

Susceptibility to Colorectal Cancer and Two Genetic Polymorphisms of XRCC4

verfasst von: Naghmeh Emami, Iraj Saadat, Shahpour Omidvari

Erschienen in: Pathology & Oncology Research | Ausgabe 4/2015

Einloggen, um Zugang zu erhalten

Abstract

The X-ray complementing group 4 (XRCC4, OMIM: 194363) plays a key role in non-homologous end-joining DNA repair pathway in mammalian cells. This pathway is believed to help maintain genomic stability. In the present study, it is hypothesized that genetic polymorphisms in the NHEJ repair XRCC4 gene may be associated with an increased risk in developing colorectal cancer (CRC). We genotyped two polymorphisms of XRCC4, G-1394T (rs6869366) and intron 3 insertion/deletion (I/D; rs28360071) in 200 colorectal cancer patients as well as 256 healthy individuals, and evaluated their association with CRC. We found that in G-1394T polymorphism, neither the TG nor the GG genotypes (versus the TT genotype) were associated with the risk of developing CRC. The results of our study indicate that in comparison with the II genotype, ID and DD genotypes had no significant association with the risk of developing CRC. Subjects with TT genotype and positive family history in colorectal cancer were found to be at a much lower risk of developing CRC in comparison with the reference group (OR = 0.31, 95%CI: 0.11–0.85, P = 0.023). It should be noted that participants having at least one G allele (TG+GG genotypes) were at a significantly higher risk to develop the disease compared with the reference group (OR = 9.10, 95%CI: 2.00–41.3, P = 0.004). In relation to I/D polymorphism, among participants, those with positive family history, either with ID (OR = 4.78, 95%CI: 2.26–10.0, P < 0.001) or DD genotypes (OR = 5.73, 95%CI: 1.99–16.4, P = 0.001) had a significantly association with the disease. Among participants with a positive family history in CRC, the haplotype GD dramatically increased the risk of developing CRC (OR = 10.2, 95%CI: 2.28–46, P = 0.002). The results of this study indicate that G-1394T and I/D polymorphisms of XRCC4 among individuals with positive family history for colorectal cancer substantially increase the risk factor for developing colorectal cancers.

Doll R, Peto R (1981) The causes of cancer: quantitative estimates of avoidable risks of cancer in the United States today. J Natl Cancer Inst 66:1191–1308PubMed

Thomas HJ (1993) Familial colorectal cancer. BMJ 307:277–278PubMedCentralCrossRefPubMed

Giovannucci E, Colditz GA, Stampfer MJ, Hunter D, Rosner BA, Willett WC, Speizer FE (1994) A prospective study of cigarette smoking and risk of colorectal adenoma and colorectal cancer in U.S. women. J Natl Cancer Inst 86:192–199CrossRefPubMed

Giovannucci E, Rimm EB, Stampfer MJ, Colditz GA, Ascherio A, Kearney J, Willett WC (1994) A prospective study of cigarette smoking and risk of colorectal adenoma and colorectal cancer in U.S. men. J Natl Cancer Inst 86:183–191CrossRefPubMed

Van Gent DC, Hoeijmakers JH, Kanaar R (2001) Chromosomal stability and the DNA double-stranded break connection. Nat Rev Genet 2:196–206CrossRefPubMed

West SC (2003) Molecular views of recombination proteins and their control. Nat Rev Mol Cell Biol 4:435–445CrossRefPubMed

Yano K, Morotomi-Yano K, Adachi N, Akiyama H (2009) Molecular mechanism of protein assembly on DNA double-strand breaks in the non-homologous end-joining pathway. J Radiat Res 50:97–108CrossRefPubMed

Li Z, Otevrel T, Gao Y, Cheng HL, Seed B, Stamato TD, Taccioli GE, Alt FW (1995) The XRCC4 gene encodes a novel protein involved in DNA double-strand break repair and V (D) J recombination. Cell 83:1079–1089CrossRefPubMed

Critchlow SE, Bowater RP, Jackson SP (1997) Mammalian DNA double-strand break repair protein XRCC4 interacts with DNA ligase IV. Curr Biol 7:588–598CrossRefPubMed

10.

Chen L, Trujillo K, Sung P, Tomkinson AE (2000) Interactions of the DNA ligase IV-XRCC4 complex with DNA ends and the DNA-dependent protein kinase. J Biol Chem 275:26196–26205CrossRefPubMed

11.

Chang CH, Chiu CF, Wang HC, Wu HC, Tsai RY, Tsai CW, Wang RF, Wang CH, Tsou YA, Bau DT (2009) Significant association of ERCC6 single nucleotide polymorphisms with bladder cancer susceptibility in Taiwan. Anticancer Res 29:5121–5124PubMed

12.

Bau DT, Fu YP, Chen ST, Cheng TC, Yu JC, Wu PE, Shen CY (2004) Breast cancer risk and the DNA double-strand break end joining capacity of non homologous end-joining genes are affected by BRCA1. Cancer Res 64:5013–5019CrossRefPubMed

13.

Bau DT, Mau YC, Ding SL, Wu PE, Shen CY (2007) DNA double strand break repair capacity and risk of breast cancer. Carcinogenesis 28:1726–1730CrossRefPubMed

14.

Chiu CF, Wang HC, Wang CH, Wang CL, Lin CC, Shen CY, Chiang SY, Bau DT (2008) A new single nucleotide polymorphism in XRCC4 gene is associated with breast cancer susceptibility in Taiwanese patients. Anticancer Res 28:267–270PubMed

15.

Chiu CF, Wang CH, Wang CL, Lin CC, Hsu NY, Weng JR, Bau DT (2008) A novel single nucleotide polymorphism in XRCC4 gene is associated with gastric cancer susceptibility in Taiwan. Ann Surg Oncol 15:514–518CrossRefPubMed

16.

Chiu CF, Tsai MH, Tseng HC, Wang CL, Wang CH, Wu CN, Lin CC, Bau DT (2008) A novel single nucleotide polymorphism in XRCC4 gene is associated with oral cancer susceptibility in Taiwanese patients. Oral Oncol 44:898–902CrossRefPubMed

17.

Bau DT, Yang MD, Tsou YA, Lin SS, Wu CN, Hsieh HH, Wang RF, Tsai CW, Chang WS, Hsieh HM, Sun SS, Tsai RY (2010) Colorectal cancer and genetic polymorphism of DNA double-strand break repair gene XRCC4 in Taiwan. Anticancer Res 30:2727–2730PubMed

18.

Rafiee L, Saadat I, Saadat M (2010) Glutathione S-transferase genetic polymorphisms (GSTM1, GSTT1 and GSTO2) in three Iranian populations. Mol Biol Rep 37:155–158CrossRefPubMed

19.

Mohamadynejad P, Saadat M (2008) Genetic polymorphisms of XRCC1 (at codons 194 and 399) in Shiraz population (Fars province, southern Iran). Mol Biol Rep 35:669–672CrossRefPubMed

20.

Bazrgar M, Karimi M, Fathzadeh M, Senemar S, Peiravian F, Shojaee A, Saadat M (2008) Apolipoprotein E polymorphism in Southern Iran: E4 allele in the lowest reported amounts. Mol Biol Rep 35:495–499CrossRefPubMed

21.

Wu KH, Wang CH, Yang YL, Peng CT, Lin WD, Tsai FJ, Lin DT, Bau DT (2010) Significant association of XRCC4 single nucleotide polymorphisms with childhood leukemia in Taiwan. Anticancer Res 30:529–533PubMed

22.

Chang CH, Chiu CF, Wu HC, Tseng HC, Wang CH, Lin CC, Tsai CW, Liang SY, Wang CL, Bau DT (2008) Significant association of XRCC4 single nucleotide polymorphisms with prostate cancer susceptibility in Taiwanese males. Mol Med Rep 1:525–530PubMed

23.

Chang CH, Chang CL, Tsai CW, Wu HC, Chiu CF, Wang RF, Liu CS, Lin CC, Bau DT (2009) Significant association of an XRCC4 single nucleotide polymorphism with bladder cancer susceptibility in Taiwan. Anticancer Res 29:1777–1782PubMed

24.

Hsu NY, Wang HC, Wang CH, Chang CL, Chiu CF, Lee HZ, Tsai CW, Bau DT (2009) Lung cancer susceptibility and genetic polymorphism of DNA repair gene XRCC4 in Taiwan. Cancer Biomark 5:159–165PubMed

25.

Mandal RK, Singh V, Kapoor R, Mittal RD (2011) Do polymorphisms in XRCC4 influence prostate cancer susceptibility in North Indian population? Biomarkers 16:236–242CrossRefPubMed

26.

Lovett E (1976) Family studies in cancer of the colon and rectum. Br J Surg 63:13–18CrossRefPubMed

27.

Fuchs CS, Giovannucci EL, Colditz GA, Hunter DJ, Speizer FE, Willett WC (1994) A prospective study of family history and the risk of colorectal cancer. N Engl J Med 331:1669–1674CrossRefPubMed

28.

St John DJ, McDermott FT, Hopper JL, Debney EA, Johnson WR, Hughes ES (1993) Cancer risk in relatives of patients with common colorectal cancer. Ann Intern Med 118:785–790CrossRefPubMed

29.

Taber JM, Aspinwall LG, Heichman KA, Kinney AY (2014) Preferences for blood-based colon cancer screening differ by race/ethnicity. Am J Health Behav 38:351–361CrossRefPubMed

30.

Harmon BE, Little MA, Woekel ED, Ettienne R, Long CR, Wilkens LR, Le Marchand L, Henderson BE, Kolonel LN, Maskarinec G (2014) Ethnic differences and predictors of colonoscopy, prostate-specific antigen, and mammography screening participation in the multiethnic cohort. Cancer Epidemiol 38:162–167PubMedCentralCrossRefPubMed

31.

Saadat M, Ansari-Lari M (2009) Polymorphism of XRCC1 (at codon 399) and susceptibility to breast cancer, a meta-analysis of the literatures. Breast Cancer Res Treat 115:137–144CrossRefPubMed

Titel: Susceptibility to Colorectal Cancer and Two Genetic Polymorphisms of XRCC4
verfasst von: Naghmeh Emami
Iraj Saadat
Shahpour Omidvari
Publikationsdatum: 01.09.2015
Verlag: Springer Netherlands
Erschienen in: Pathology & Oncology Research / Ausgabe 4/2015
Print ISSN: 1219-4956
Elektronische ISSN: 1532-2807
DOI: https://doi.org/10.1007/s12253-015-9905-z

Die Highlights vom Kongress des American College of Cardiology 2024

Springer Medizin

Susceptibility to Colorectal Cancer and Two Genetic Polymorphisms of XRCC4

Abstract

Neu im Fachgebiet Onkologie

Alphablocker schützt vor Miktionsproblemen nach der Biopsie

Antikörper-Wirkstoff-Konjugat hält solide Tumoren in Schach

Mammakarzinom: Senken Statine das krebsbedingte Sterberisiko?

Labor, CT-Anthropometrie zeigen Risiko für Pankreaskrebs

Update Onkologie

Die Highlights vom Kongress des American College of Cardiology 2024

Springer Medizin

Abstract

Bitte loggen Sie sich ein, um Zugang zu diesem Inhalt zu erhalten

Weitere Artikel der Ausgabe 4/2015

Expression of Tight Junction Components in Hepatocyte-Like Cells Differentiated from Human Embryonic Stem Cells

Patients with Persistently Elevated PSA and Negative Results of TRUS-Biopsy: Does 6-Month Treatment with Dutasteride can Indicate Candidates for Re-Biopsy. What is the Best of Saturation Schemes: Transrectal or Transperineal Approach?

Bisulfite-Based DNA Methylation Analysis from Recent and Archived Formalin-Fixed, Paraffin Embedded Colorectal Tissue Samples

Expression of Amino Acid Transporters (LAT1 and ASCT2) in Patients with Stage III/IV Laryngeal Squamous Cell Carcinoma

Prognostic factors for second recurrence after surgical resection of recurrent desmoid-type fibromatosis

Exploring the Molecular Mechanism and Biomakers of Liver Cancer Based on Gene Expression Microarray

Neu im Fachgebiet Onkologie

Alphablocker schützt vor Miktionsproblemen nach der Biopsie

Antikörper-Wirkstoff-Konjugat hält solide Tumoren in Schach

Mammakarzinom: Senken Statine das krebsbedingte Sterberisiko?

Labor, CT-Anthropometrie zeigen Risiko für Pankreaskrebs

Update Onkologie