Genotype misclassification in genetic association studies of the rs1042522 TP53 (Arg72Pro) polymorphism: A systematic review of studies of breast, lung, colorectal, ovarian, and endometrial cancer

American Journal of Epidemiology

Volumn 177, Issue 12, 2013, Pages 1317-1325

  Dahabreh, Issa J ^a   Schmid, Christopher H ^a   Lau, Joseph ^a   Varvarigou, Vasileia ^b   Murray, Samuel ^c,d   Trikalinos, Thomas A ^a,e  

^a TUFTS MEDICAL CENTER   (United States)

^b HARVARD SCHOOL OF PUBLIC HEALTH   (United States)

^c GeneKOR AE   (Greece)

^d Biomarker Solutions Ltd   (United Kingdom)

^e BROWN UNIVERSITY   (United States)

Author keywords

Arg72Pro; cancer; meta analysis; rs1042522; TP53

Indexed keywords

PROLINE; PROTEIN P53;

BAYESIAN ANALYSIS; CANCER; DATABASE; GENE EXPRESSION; GENOTYPE; HETEROZYGOSITY; META-ANALYSIS; POLYMORPHISM; TUMOR;

ALLELE; BAYES THEOREM; BREAST CANCER; CLASSIFICATION; COLORECTAL CANCER; DATA BASE; ENDOMETRIUM CANCER; EVIDENCE BASED MEDICINE; GENE LOCUS; GENETIC ASSOCIATION; GENOTYPE; HETEROZYGOSITY LOSS; HUMAN; LUNG CANCER; OVARY CANCER; PROBABILITY; REVIEW; SINGLE NUCLEOTIDE POLYMORPHISM; SYSTEMATIC REVIEW;

ARG72PRO; CANCER; META-ANALYSIS; RS1042522; TP53;

ALLELES; BAYES THEOREM; BREAST NEOPLASMS; COLORECTAL NEOPLASMS; ENDOMETRIAL NEOPLASMS; FEMALE; GENES, P53; GENOTYPING TECHNIQUES; HUMANS; LOSS OF HETEROZYGOSITY; LUNG NEOPLASMS; NEOPLASMS; OVARIAN NEOPLASMS; POLYMORPHISM, GENETIC; PROLINE;

EID: 84878861841     PISSN: 00029262     EISSN: 14766256     Source Type: Journal    
DOI: 10.1093/aje/kws394     Document Type: Review

References (51)

1. Jemal A, Siegel R, Xu J, et al. Cancer statistics, 2010. CA Cancer J Clin. 2010;60(5):277-300.
2. Jemal A, Bray F, Center MM, et al. Global cancer statistics. CA Cancer J Clin. 2011;61(2):69-90.
3. Lichtenstein P, Holm NV, Verkasalo PK, 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.
4. Whibley C, Pharoah PD, Hollstein M. p53 polymorphisms: cancer implications. Nat Rev Cancer. 2009;9(2):95-107.
5. Li FP, Fraumeni JF Jr. Soft-tissue sarcomas, breast cancer, and other neoplasms. A familial syndrome? Ann Intern Med.
6. Hollstein M, Sidransky D, Vogelstein B, et al. p53 mutations in human cancers. Science. 1991;253(5015):49-53.
7. Morris SM. A role for p53 in the frequency and mechanism of mutation. Mutat Res. 2002;511(1):45-62.
8. Lane DP. p53, guardian of the genome. Nature. 1992; 358(6381):15-16.
9. Matlashewski GJ, Tuck S, Pim D, et al. Primary structure polymorphism at amino acid residue 72 of human p53. Mol Cell Biol. 1987;7(2):961-963.
10. Thomas M, Kalita A, Labrecque S, et al. Two polymorphic variants of wild-type p53 differ biochemically and biologically. Mol Cell Biol. 1999;19(2):1092-1100.
11. Marin MC, Jost CA, Brooks LA, et al. A common polymorphism acts as an intragenic modifier of mutant p53 behaviour. Nat Genet. 2000;25(1):47-54.
12. Dumont P, Leu JI, Della Pietra AC 3rd, et al. The codon 72 polymorphic variants of p53 have markedly different apoptotic potential. Nat Genet. 2003;33(3):357-365.
13. Vineis P, Manuguerra M, Kavvoura FK, et al. A field synopsis on low-penetrance variants in DNA repair genes and cancer susceptibility. J Natl Cancer Inst. 2009;101(1):24-36.
14. Storey A, Thomas M, Kalita A, et al. Role of a p53 polymorphism in the development of human papillomavirusassociated cancer. Nature. 1998;393(6682):229-234.
15. Klug SJ, Ressing M, Koenig J, et al. TP53 codon 72 polymorphism and cervical cancer: a pooled analysis of individual data from 49 studies. Lancet Oncol. 2009;10(8): 772-784.
16. Tada M, Furuuchi K, Kaneda M, et al. Inactivate the remaining p53 allele or the alternate p73? Preferential selection of the Arg72 polymorphism in cancers with recessive p53 mutants but not transdominant mutants. Carcinogenesis. 2001; 22(3):515-517.
17. Schneider-Stock R, Boltze C, Peters B, et al. Selective loss of codon 72 proline p53 and frequent mutational inactivation of the retained arginine allele in colorectal cancer. Neoplasia.2004;6(5):529-535.
18. Brooks LA, Tidy JA, Gusterson B, et al. Preferential retention of codon 72 arginine p53 in squamous cell carcinomas of the vulva occurs in cancers positive and negative for human papillomavirus. Cancer Res. 2000;60(24): 6875-6877.
19. Dahabreh IJ, Linardou H, Bouzika P, et al. TP53 Arg72Pro polymorphism and colorectal cancer risk: a systematic review and meta-analysis. Cancer Epidemiol Biomarkers Prev.2010;19(7):1840-1847.
20. Schneider-Stock R, Mawrin C, Motsch C, et al. Retention of the arginine allele in codon 72 of the p53 gene correlates with poor apoptosis in head and neck cancer. Am J Pathol.2004;164(4):1233-1241
21. Becker KG, Barnes KC, Bright TJ, et al. The genetic association database. Nat Genet. 2004;36(5):431-432.
22. Yu W, Yesupriya A, Wulf A, et al. An automatic method to generate domain-specific investigator networks using PubMed abstracts. BMC Med Inform Decis Mak. 2007;7:17.
23. Hainaut P, Hernandez T, Robinson A, et al. IARC database of p53 gene mutations in human tumors and cell lines: updated compilation, revised formats and new visualisation tools. Nucleic Acids Res. 1998;26(1):205-213.
24. Hainaut P, Soussi T, Shomer B, et al. Database of p53 gene somatic mutations in human tumors and cell lines: updated compilation and future prospects. Nucleic Acids Res. 1997; 25(1):151-157.
25. Hamroun D, Kato S, Ishioka C, et al. The UMD TP53 database and website: update and revisions. Hum Mutat.2006;27(1):14-20
26. Beroud C, Soussi T. The UMD-p53 database: new mutations and analysis tools. Hum Mutat. 2003;21(3):176-181.
27. Zou G, Zhao H. The impacts of errors in individual genotyping and DNA pooling on association studies. Genet Epidemiol. 2004;26(1):1-10.
28. Jawaid A, Sham P. Impact and quantification of the sources of error in DNA pooling designs. Ann Hum Genet. 2009;73(1): 118-124.
29. Smith TC, Spiegelhalter DJ, Thomas A. Bayesian approaches to random effects meta analysis: a comparative study. Stat Med. 1995;14(24):2685-2699.
30. Gelman A, Hill J. Multilevel generalized linear models. In: Data Analysis Using Regression and Multilevel/Hierarchical Models. Cambridge, United Kingdom: Cambridge University Press; 2007:325-342.
31. Spiegelhalter D, Abrams K, Myles J. Evidence synthesis. In: Bayesian Approaches to Clinical Trials and Health-Care Evaluation. Chichester, United Kingdom: JohnWiley & Sons Ltd; 2004:267-303.
32. Turner RM, Omar RZ, Yang M, et al. A multilevel model framework for meta-analysis of clinical trials with binary outcomes. Stat Med. 2000;19(24):3417-3432.
33. DerSimonian R, Laird N. Meta-analysis in clinical trials. Control Clin Trials. 1986;7(3):177-188.
34. Higgins J, Thompson SG, Spiegelhalter DJ. A re-evaluation of random-effects meta-analysis. J R Stat Soc Ser A Stat Soc.2009;172(1):137-159.
35. Cochran W. The combination of estimates from different experiments. Biometrics. 1954;10(1): 101-129.
36. Higgins JP, Thompson SG. Quantifying heterogeneity in a meta-analysis. Stat Med. 2002;21(11):1539-1558.
37. Thompson SG, Higgins JP. How should meta-regression analyses be undertaken and interpreted? Stat Med. 2002; 21(11):1559-1573.
38. Knapp G, Hartung J. Improved tests for a random effects metaregression with a single covariate. Stat Med. 2003;22(17): 2693-2710.
39. Harbord RM, Egger M, Sterne JA. A modified test for smallstudy effects in meta-analyses of controlled trials with binary endpoints. Stat Med. 2006;25(20):3443-3457.
40. Egger M, Davey Smith G, Schneider M, et al. Bias in metaanalysis detected by a simple, graphical test. BMJ. 1997; 315(7109):629-634.
41. Lau J, Ioannidis JP, Terrin N, et al. The case of the misleading funnel plot. BMJ. 2006;333(7568):597-600.
42. Mantel N, Haenszel W. Statistical aspects of the analysis of data from retrospective studies of disease. J Natl Cancer Inst.1959;22(4):719-748.
43. Rothman KJ. No adjustments are needed for multiple comparisons. Epidemiology. 1990;1(1):43-46.
44. Nelson HH,Wilkojmen M, Marsit CJ, et al. TP53 mutation, allelism and survival in non-small cell lung cancer. Carcinogenesis. 2005;26(10):1770-1773.
45. Papadakis E, Soulitzis N, Spandidos D. Association of p53 codon 72 polymorphism with advanced lung cancer: the Arg allele is preferentially retained in tumours arising in Arg/Pro germline heterozygotes. Br J Cancer. 2002;87(9): 1013-1018.
46. Furihata M, Takeuchi T, Matsumoto M, et al. p53 mutation arising in Arg72 allele in the tumorigenesis and development of carcinoma of the urinary tract. Clin Cancer Res. 2002; 8(5):1192-1195.
47. Bonafe M, Ceccarelli C, Farabegoli F, et al. Retention of the p53 codon 72 arginine allele is associated with a reduction of disease-free and overall survival in arginine/proline heterozygous breast cancer patients. Clin Cancer Res. 2003; 9(13):4860-4864.
48. Kawaguchi H, Ohno S, Araki K, et al. p53 polymorphism in human papillomavirus-associated esophageal cancer. Cancer Res. 2000;60(11):2753-2755.
49. Dai S, Mao C, Jiang L, et al. P53 polymorphism and lung cancer susceptibility: a pooled analysis of 32 case-control studies. Hum Genet. 2009;125(5):633-638.
50. Matakidou A, Eisen T, Houlston R. TP53 polymorphisms and lung cancer risk: a systematic review and meta analysis. Mutagenesis. 2003;18(4):377-385.
51. Lawlor DA, Harbord RM, Sterne JA, et al. Mendelian randomization: using genes as instruments for making causal inferences in epidemiology. Stat Med. 2008;27(8): 1133-1163.