A genetic variant in the promoter of APE1 gene (-656 T>G) is associated with breast cancer risk and progression in a Chinese population

Gene

Volumn 531, Issue 1, 2013, Pages 97-100

  Kang, Huafeng ^a   Dai, Zhijun ^a   Ma, Xiaobin ^a   Ma, Li ^a   Jin, Yaofeng ^a   Liu, Xiaoxu ^a   Wang, Xijing ^a  

^a MEDICAL SCHOOL OF XI AN JIAOTONG UNIVERSITY   (China)

Author keywords

APE1; Breast cancer; Polymorphism; Susceptibility

Indexed keywords

AP ENDONUCLEASE 1; NUCLEAR PROTEIN; UNCLASSIFIED DRUG;

ADULT; ARTICLE; BREAST CANCER; CANCER RISK; CASE CONTROL STUDY; CHINESE; CONTROLLED STUDY; DISEASE COURSE; DNA POLYMORPHISM; GENE; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; GENOTYPE; HUMAN; LYMPH NODE METASTASIS; MAJOR CLINICAL STUDY; PRIORITY JOURNAL; PROMOTER REGION;

AP ENDONUCLEASE 1; APE1; BASE EXCISION REPAIR; BER; BREAST CANCER; CI; CONFIDENCE INTERVAL; ODDS RATIO; OR; POLYMORPHISM; SINGLE NUCLEOTIDE POLYMORPHISM; SNP; SUSCEPTIBILITY;

ADULT; AGED; ALLELES; ASIAN CONTINENTAL ANCESTRY GROUP; BREAST NEOPLASMS; CASE-CONTROL STUDIES; CHINA; DISEASE PROGRESSION; DNA-(APURINIC OR APYRIMIDINIC SITE) LYASE; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; MIDDLE AGED; ODDS RATIO; POLYMORPHISM, SINGLE NUCLEOTIDE; PROMOTER REGIONS, GENETIC; RISK;

EID: 84884815776     PISSN: 03781119     EISSN: 18790038     Source Type: Journal    
DOI: 10.1016/j.gene.2013.08.052     Document Type: Article

References (22)

1. Au W.W., Salama S.A., Sierra-Torres C.H. Functional characterization of polymorphisms in DNA repair genes using cytogenetic challenge assays. Environ. Health Perspect. 2003, 111(15):1843-1850. (doi:sc271_5_1835 [pii]).
2. Barzilay G., Hickson I.D. Structure and function of apurinic/apyrimidinic endonucleases. Bioessays 1995, 17(8):713-719. 10.1002/bies.950170808.
3. Cao Q., et al. Genetic polymorphisms in APE1 are associated with renal cell carcinoma risk in a Chinese population. Mol. Carcinog. 2011, 50(11):863-870. 10.1002/mc.20791.
4. Goode E.L., Ulrich C.M., Potter J.D. Polymorphisms in DNA repair genes and associations with cancer risk. Cancer Epidemiol. Biomarkers Prev. 2002, 11(12):1513-1530.
5. Gu D., Wang M., Zhang Z., Chen J. The DNA repair gene APE1 T1349G polymorphism and cancer risk: a meta-analysis of 27 case-control studies. Mutagenesis 2009, 24(6):507-512. (doi:gep036 [pii] http://dx.doi.org/10.1093/mutage/gep036).
6. Hadi M.Z., Coleman M.A., Fidelis K., Mohrenweiser H.W., Wilson D.M. Functional characterization of Ape1 variants identified in the human population. Nucleic Acids Res. 2000, 28(20):3871-3879.
7. Hoeijmakers J.H. Genome maintenance mechanisms for preventing cancer. Nature 2001, 411(6835):366-374. (35077232 [pii]). 10.1038/35077232.
8. Izumi T., et al. Requirement for human AP endonuclease 1 for repair of 3'-blocking damage at DNA single-strand breaks induced by reactive oxygen species. Carcinogenesis 2000, 21(7):1329-1334.
9. Jemal A., Bray F., Center M.M., Ferlay J., Ward E., Forman D. Global cancer statistics. CA Cancer J. Clin. 2011, 61(2):69-90. (doi:caac.20107 [pii] http://dx.doi.org/10.3322/caac.20107).
10. Lichtenstein P., et al. Environmental and heritable factors in the causation of cancer-analyses of cohorts of twins from Sweden, Denmark, and Finland. N. Engl. J. Med. 2000, 343(2):78-85. 10.1056/NEJM200007133430201.
11. Lindahl T. Recognition and processing of damaged DNA. J. Cell Sci. Suppl. 1995, 19:73-77.
12. Lo Y.L., et al. A polymorphism in the APE1 gene promoter is associated with lung cancer risk. Cancer Epidemiol. Biomarkers Prev. 2009, 18(1):223-229. (doi:18/1/223 [pii] http://dx.doi.org/10.1158/1055-9965.EPI-08-0749).
13. Lu J., et al. Functional characterization of a promoter polymorphism in APE1/Ref-1 that contributes to reduced lung cancer susceptibility. FASEB J. 2009, 23(10):3459-3469. (doi:fj.09-136549 [pii] http://dx.doi.org/10.1096/fj.09-136549).
14. Sangrajrang S., et al. Polymorphisms in three base excision repair genes and breast cancer risk in Thai women. Breast Cancer Res. Treat. 2008, 111(2):279-288. 10.1007/s10549-007-9773-7.
15. Smith T.R., et al. DNA-repair genetic polymorphisms and breast cancer risk. Cancer Epidemiol. Biomarkers Prev. 2003, 12(11 Pt 1):1200-1204.
16. Tell G., Fantini D., Quadrifoglio F. Understanding different functions of mammalian AP endonuclease (APE1) as a promising tool for cancer treatment. Cell. Mol. Life Sci. 2010, 67(21):3589-3608. 10.1007/s00018-010-0486-4.
17. Thompson E.R., et al. Exome sequencing identifies rare deleterious mutations in DNA repair genes FANCC and BLM as potential breast cancer susceptibility alleles. PLoS Genet. 2012, 8(9):e1002894. (PGENETICS-D-12-00361 [pii]). 10.1371/journal.pgen.1002894.
18. Wilson D.M., Bohr V.A. The mechanics of base excision repair, and its relationship to aging and disease. DNA Repair (Amst) 2007, 6(4):544-559.
19. Wood R.D., Mitchell M., Lindahl T. Human DNA repair genes, 2005. Mutat. Res. 2005, 577(1-2):275-283. (doi:S0027-5107(05)00163-6 [pii] http://dx.doi.org/10.1016/j.mrfmmm.2005.03.007).
20. Wu B., Liu H.L., Zhang S., Dong X.R., Wu G. Lack of an association between two BER gene polymorphisms and breast cancer risk: a meta-analysis. PLoS One 2012, 7(12):e50857. (PONE-D-12-15192 [pii]). 10.1371/journal.pone.0050857.
21. Xi T., Jones I.M., Mohrenweiser H.W. Many amino acid substitution variants identified in DNA repair genes during human population screenings are predicted to impact protein function. Genomics 2004, 83(6):970-979. (S0888754304000229 [pii]). 10.1016/j.ygeno.2003.12.016.
22. Zhou B., et al. The association of APE1-656T>G and 1349T>G polymorphisms and cancer risk: a meta-analysis based on 37 case-control studies. BMC Cancer 2011, 11:521. (doi:1471-2407-11-521 [pii] http://dx.doi.org/10.1186/1471-2407-11-521).