Polygenic model of DNA repair genetic polymorphisms in human breast cancer risk

Carcinogenesis

Volumn 29, Issue 11, 2008, Pages 2132-2138

  Smith, Tasha R ^a   Levine, Edward A ^c   Freimanis, Rita I ^c   Akman, Steven A ^c   Allen, Glenn O ^a   Hoang, Kimberly N ^a   Liu Mares, Wen ^a,b   Hu, Jennifer J ^a,b  

^a UNIVERSITY OF MIAMI   (United States)

^b UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

^c WAKE FOREST SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; ARGININE; ASPARAGINE; ASPARTIC ACID; GENOMIC DNA; GLUTAMIC ACID; GLUTAMINE; GLYCINE; HISTAMINE; ISOLEUCINE; LYSINE; METHIONINE; NIBRIN; PROTEIN ADPRT; PROTEIN MLH1; PROTEIN MSH3; PROTEIN MSH6; PROTEIN XRCC2; PROTEIN XRCC4; PROTEIN XRCC5; THREONINE; TRANSCRIPTION FACTOR; TRYPTOPHAN; UNCLASSIFIED DRUG; VALINE; XERODERMA PIGMENTOSUM GROUP C PROTEIN; XRCC1 PROTEIN; XRCC3 PROTEIN;

ADULT; AFRICAN AMERICAN; AGED; ARTICLE; BREAST CANCER; CANCER RISK; CASE CONTROL STUDY; CAUCASIAN; CONTROLLED STUDY; DNA REPAIR; DOUBLE STRANDED DNA BREAK; EXCISION REPAIR; FEMALE; GENETIC ASSOCIATION; GENETIC MODEL; GENETIC POLYMORPHISM; HUMAN; MAJOR CLINICAL STUDY; MISMATCH REPAIR; PRIORITY JOURNAL; SIGNAL TRANSDUCTION; SINGLE NUCLEOTIDE POLYMORPHISM;

AGED; BREAST NEOPLASMS; CASE-CONTROL STUDIES; DNA REPAIR; FEMALE; HUMANS; MIDDLE AGED; MODELS, GENETIC; MULTIFACTORIAL INHERITANCE; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 56049099006     PISSN: 01433334     EISSN: 14602180     Source Type: Journal    
DOI: 10.1093/carcin/bgn193     Document Type: Article

References (50)

1. Jemal,A. et al. (2008) Cancer statistics, 2008. CA Cancer J. Clin., 58, 71-96.
2. Tyrer,J. et al. (2004) A breast cancer prediction model incorporating familial and personal risk factors. Stat. Med., 23, 1111-1130.
3. Johnson-Thompson,M.C. et al. (2000) Ongoing research to identify environmental risk factors in breast carcinoma. Cancer, 88, 1224-1229.
4. Fortini,P. et al. (2003) The base excision repair: Mechanisms and its relevance for cancer susceptibility. Biochimie, 85, 1053-1071.
5. Hu,J.J. et al. (2002) Genetic regulation of ionizing sensitivity and breast cancer risk. Environ. Mol. Mutagen., 39, 208-215.
6. Smith,T.R. et al. (2003) DNA damage and breast cancer risk. Carcinogenesis, 24, 883-889.
7. Ramos,J.M. et al. (2004) DNA repair and breast carcinoma susceptibility in women. Cancer, 100, 1352-1357.
8. Schreiber,V. et al. (2006) Poly(ADP-ribose): Novel functions for an old molecule. Nat. Rev. Mol. Cell Biol., 7, 517-528.
9. Hu,J.J. et al. (1997) Poly(ADP-ribose) polymerase in human breast cancer: A case-control analysis. Pharmacogenetics, 7, 309-316.
10. Liu,Y. et al. (2007) Coordination of steps in single-nucleotide base excision repair mediated by apurinic/apyrimidinic endonuclease 1 and DNA polymerase beta. J. Biol. Chem., 282, 13532-13541.
11. Horton,J.K. et al. (2008) XRCC1 and DNA polymerase beta in cellular protection against cytotoxic DNA single-strand breaks. Cell Res., 18, 48-63.
12. Parsons,J.L. et al. (2007) DNA polymerase delta-dependent repair of DNA single strand breaks containing 3′-end proximal lesions. Nucleic Acids Res., 35, 1054-1063.
13. Christmann,M. et al. (2003) Mechanisms of human DNA repair: An update. Toxicology, 193, 3-34.
14. Bergstralh,D.T. et al. (2008) Interstrand crosslink repair: Can XPF-ERCC1 be let off the hook? Trends Genet., 24, 70-76.
15. Sugasawa,K. (2008) Xeroderma pigmentosum genes: Functions inside and outside DNA repair. Carcinogenesis, 29, 455-465.
16. Li,G.M. (2008) Mechanisms and functions of DNA mismatch repair. Cell Res., 18, 85-98.
17. Kuligina,E.S.h et al. (2007) Microsatellite instability analysis of bilateral breast tumors suggests treatment-related origin of some contralateral malignancies. J. Cancer Res. Clin. Oncol., 133 57-64.
18. Moinfar,F. et al. (2008) Macro-environment of breast carcinoma: frequent genetic alterations in the normal appearing skins of patients with breast cancer. Mod. Pathol., 21, 639-646.
19. Heck,J.A. et al. (2006) Negative epistasis between natural variants of the Saccharomyces cerevisiae MLH1 and PMS1 genes results in a defect in mismatch repair. Proc. Natl Acad. Sci. USA, 103, 3256-3261.
20. Shrivastav,M. et al. (2008) Regulation of DNA double-strand break repair pathway choice. Cell Res., 18, 134-147.
21. Liu,Y. et al. (2007) Role of RAD51C and XRCC3 in genetic recombination and DNA repair. J. Biol. Chem., 282, 1973-1979.
22. Hsu,H.M. et al. (2007) Breast cancer risk is associated with the genes encoding the DNA double-strand break repair Mre11/Rad50/Nbs1 complex. Cancer Epidemiol. Biomarkers Prev., 16, 2024-2032.
23. Chen,L. et al. (2008) Cell cycle-dependent complex formation of BRCA1/CtIP/MRN is important for DNA double-strand break repair. J. Biol. Chem., 283, 7713-7720.
24. Smith,T.R. et al. (2003) DNA-repair genetic polymorphisms and breast cancer risk. Cancer Epidemiol. Biomarkers Prev., 12, 1200-1204.
25. Van Emburgh,B.O. et al. (2008) Polymorphisms in drug metabolism genes, smoking, and p53 mutations in breast cancer. Mol. Carcinog. 47, 88-99.
26. Sak,S.C. et al. (2007) DNA repair gene XRCC1 polymorphisms and bladder cancer risk. BMC Genet., 8, 13.
27. Pachkowski,B.F. et al. (2006) XRCC1 genotype and breast cancer: functional studies and epidemiologic data show interactions between XRCC1 codon 280 His and smoking. Cancer Res., 66, 2860-2868.
28. Matullo,G. et al. (2001) XRCC1, XRCC3, XPD gene polymorphisms, smoking and (32)P-DNA adducts in a sample of healthy subjects. Carcinogenesis, 22, 1437-1445.
29. Kuschel,B. et al. (2002) Variants in DNA double-strand break repair genes and breast cancer susceptibility. Hum. Mol. Genet., 11, 1399-1407.
30. Jorgensen,T.J. et al. (2007) Breast cancer risk is not associated with polymorphic forms of xeroderma pigmentosum genes in a cohort of women from Washington County, Maryland. Breast Cancer Res. Treat., 101, 65-71.
31. Mechanic,L.E. et al. (2006) Polymorphisms in nucleotide excision repair genes, smoking, and breast cancer in African Americans and whites: A population-based case-control study. Carcinogenesis, 27, 1377-1385.
32. Berndt,S.I. et al. (2007) Mismatch repair polymorphisms and the risk of colorectal cancer. Int. J. Cancer, 120, 1548-1554.
33. Johnson,N. et al. (2007) Counting potentially functional variants in BRCA1, BRCA2 and ATM predicts breast cancer susceptibility. Hum. Mol. Genet., 16, 1051-1057.
34. Haiman,C.A. et al. (2008) Comprehensive association testing of common genetic variation in DNA repair pathway genes in relationship with breast cancer risk in multiple populations. Hum. Mol. Genet., 17, 825-834.
35. Easton,D.F. et al. (2007) Genome-wide association study identifies novel breast cancer susceptibility loci. Nature, 447, 1087-1093.
36. Zhai,X. et al. (2006) Polymorphisms of ADPRT Val762Ala and XRCC1 Arg399Glu and risk of breast cancer in Chinese women: A case control analysis. Oncol. Rep., 15, 247-252.
37. Zhang,Y. et al. (2006) Genetic polymorphisms in base-excision repair pathway genes and risk of breast cancer. Cancer Epidemiol. Biomarkers Prev., 15, 353-358.
38. Lockett,K.L. et al. (2004) The ADPRT V762A genetic variant contributes to prostate cancer susceptibility and deficient enzyme function. Cancer Res., 64, 6344-6348.
39. Wang,X.G. et al. (2007) PARP1 Val762Ala polymorphism reduces enzymatic activity. Biochem. Biophys. Res. Commun., 354, 122-126.
40. Hu,J.J. et al. (2001) Amino acid substitution variants of APE1 and XRCC1 genes associated with ionizing radiation sensitivity. Carcinogenesis, 22, 917-922.
41. Hadi,M.Z. et al. (2000) Functional characterization of Ape1 variants identified in the human population. Nucleic Acids Res., 28, 3871-3879.
42. Landi,S. et al. (2006) DNA repair and cell cycle control genes and the risk of young-onset lung cancer. Cancer Res., 66, 11062-11069.
43. Lee,K.M. et al. (2005) Genetic polymorphisms of selected DNA repair genes, estrogen and progesterone receptor status, and breast cancer risk. Clin. Cancer Res., 11, 4620-4626.
44. Blasi,M.F. et al. (2006) A human cell-based assay to evaluate the effects of alterations in the MLH1 mismatch repair gene. Cancer Res. 66, 9036-9044.
45. Mathonnet,G. et al. (2003) Role of DNA mismatch repair genetic polymorphisms in the risk of childhood acute lymphoblastic leukaemia. Br. J. Haematol., 123, 45-48.
46. Bagnoli,S. et al. (2004) Susceptibility to refractory ulcerative colitis is associated with polymorphism in the hMLH1 mismatch repair gene. Inlamm. Bowel Dis., 10, 705-708.
47. Crew,K.D. et al. (2007) Polymorphisms in nucleotide excision repair genes, polycyclic aromatic hydrocarbon-DNA adducts, and breast cancer risk. Cancer Epidemiol. Biomarkers Prev., 16, 2033-2041.
48. Millikan,R.C. et al. (2005) Polymorphisms in DNA repair genes, medical exposure to ionizing radiation, and breast cancer risk. Cancer Epidemiol. Biomarkers Prev., 14, 2326-2334.
49. Young,L.C. et al. (2007) The associated contributions of p53 and the DNA mismatch repair protein Msh6 to spontaneous tumorigenesis. Carcinogenesis, 28, 2131-2138.
50. Hu,J.J. et al. (2002) Symposium overview: Genetic polymorphisms in DNA repair and cancer risk. Toxicol. Appl. Pharmacol., 185, 64-73.