Candidate gene-environment interactions in breast cancer

BMC Medicine

Frank Dudbridge¹  Olivia Fletcher² 

[1] Department of Non-communicable Disease Epidemiology, London School of Hygiene and Tropical Medicine, London WC1E 7HT, UK;Division of Breast Cancer Research, The Institute of Cancer Research, London SW3 6JB, UK

关键词: Single nucleotide polymorphism;    Breast cancer;    Gene-environment interaction;   

Others  :  1121393
DOI  :  10.1186/s12916-014-0195-1

 received in 2014-09-16, accepted in 2014-09-30,  发布年份 2014

【 摘 要 】

Gene-environment interactions have the potential to shed light on biological processes leading to disease, identify individuals for whom risk factors are most relevant, and improve the accuracy of epidemiological risk models. We review the progress that has been made in investigating gene-environment interactions in the field of breast cancer. Although several large-scale analyses have been carried out, only a few significant interactions have been reported. One of these, an interaction between CASP8-rs1045485 and alcohol consumption has been replicated, but others have not, including LSP1- rs3817198 and parity, and 1p11.2-rs11249433 and ever being parous. False positive interactions may arise if the gene and environment are correlated and the causal variant is less frequent than the tag SNP. We conclude that while much progress has been made in this area it is still too soon to tell whether gene-environment interactions will fulfil their promise. Before we can make this assessment we will need to replicate (or refute) the reported interactions, identify the causal variants that underlie tag-SNP associations and validate the next generation of epidemiological risk models.

【 授权许可】

   
2014 Fletcher and Dudbridge; licensee BioMed Central Ltd.

【 参考文献 】

• [1]Michailidou K, Hall P, Gonzalez-Neira A, Ghoussaini M, Dennis J, Milne RL, Schmidt MK, Chang-Claude J, Bojesen SE, Bolla MK, Wang Q, Dicks E, Lee A, Turnbull C, Rahman N, Fletcher O, Peto J, Gibson L, Dos Santos Silva I, Nevanlinna H, Muranen TA, Aittomäki K, Blomqvist C, Czene K, Irwanto A, Liu J, Waisfisz Q, Meijers-Heijboer H, Adank M, et al.: Large-scale genotyping identifies 41 new loci associated with breast cancer risk. Nat Genet 2013, 45:353-361. 361e351-352
• [2]Hunter DJ: Gene-environment interactions in human diseases. Nat Rev Genet 2005, 6:287-298.
• [3]Travis RC, Reeves GK, Green J, Bull D, Tipper SJ, Baker K, Beral V, Peto R, Bell J, Zelenika D, Lathrop M: Gene-environment interactions in 7610 women with breast cancer: prospective evidence from the Million Women Study. Lancet 2010, 375:2143-2151.
• [4]Milne RL, Gaudet MM, Spurdle AB, Fasching PA, Couch FJ, Benitez J, Arias Perez JI, Zamora MP, Malats N, Dos Santos SI, Gibson LJ, Fletcher O, Johnson N, Anton-Culver H, Ziogas A, Figueroa J, Brinton L, Sherman ME, Lissowska J, Hopper JL, Dite GS, Apicella C, Southey MC, Sigurdson AJ, Linet MS, Schonfeld SJ, Freedman DM, Mannermaa A, Kosma VM, Kataja V, et al.: Assessing interactions between the associations of common genetic susceptibility variants, reproductive history and body mass index with breast cancer risk in the breast cancer association consortium: a combined case–control study. Breast Cancer Res 2010, 12:R110. BioMed Central Full Text
• [5]Nickels S, Truong T, Hein R, Stevens K, Buck K, Behrens S, Eilber U, Schmidt M, Haberle L, Vrieling A, Gaudet M, Figueroa J, Schoof N, Spurdle AB, Rudolph A, Fasching PA, Hopper JL, Makalic E, Schmidt DF, Southey MC, Beckmann MW, Ekici AB, Fletcher O, Gibson L, Silva Idos S, Peto J, Humphreys MK, Wang J, Cordina-Duverger E, Menegaux F, et al.: Evidence of gene-environment interactions between common breast cancer susceptibility loci and established environmental risk factors. PLoS Genet 2013, 9:e1003284.
• [6]Campa D, Kaaks R, Le Marchand L, Haiman CA, Travis RC, Berg CD, Buring JE, Chanock SJ, Diver WR, Dostal L, Fournier A, Hankinson SE, Henderson BE, Hoover RN, Isaacs C, Johansson M, Kolonel LN, Kraft P, Lee IM, McCarty CA, Overvad K, Panico S, Peeters PH, Riboli E, Sanchez MJ, Schumacher FR, Skeie G, Stram DO, Thun MJ, Trichopoulos D, et al.: Interactions between genetic variants and breast cancer risk factors in the breast and prostate cancer cohort consortium. J Natl Cancer Inst 2011, 103:1252-1263.
• [7]Barrdahl M, Canzian F, Joshi AD, Travis RC, Chang-Claude J, Auer PL, Gapstur SM, Gaudet M, Diver WR, Henderson BE, Haiman CA, Schumacher FR, Le Marchand L, Berg CD, Chanock SJ, Hoover RN, Rudolph A, Ziegler RG, Giles GG, Baglietto L, Severi G, Hankinson SE, Lindström S, Willet W, Hunter DJ, Buring JE, Lee IM, Zhang S, Dossus L, Cox DG, et al.: Post-GWAS gene-environment interplay in breast cancer: results from the Breast and Prostate Cancer Cohort Consortium and a meta-analysis on 79 000 women. Hum Mol Genet 2014, 23:5260-5270.
• [8]Li H, Beeghly-Fadiel A, Wen W, Lu W, Gao YT, Xiang YB, Cai Q, Long J, Shi J, Chen K, Zheng Y, Shu XO, Zheng W: Gene-environment interactions for breast cancer risk among Chinese women: a report from the Shanghai Breast Cancer Genetics Study. Am J Epidemiol 2013, 177:161-170.
• [9]Kraft P, Yen YC, Stram DO, Morrison J, Gauderman WJ: Exploiting gene-environment interaction to detect genetic associations. Hum Hered 2007, 63:111-119.
• [10]Gauderman WJ, Zhang P, Morrison JL, Lewinger JP: Finding novel genes by testing G x E interactions in a genome-wide association study. Genet Epidemiol 2013, 37:603-613.
• [11]Dai JY, Kooperberg C, Leblanc M, Prentice RL: Two-stage testing procedures with independent filtering for genome-wide gene-environment interaction. Biometrika 2012, 99:929-944.
• [12]Schoeps A, Rudolph A, Seibold P, Dunning AM, Milne RL, Bojesen SE, Swerdlow A, Andrulis I, Brenner H, Behrens S, Orr N, Jones M, Ashworth A, Li J, Cramp H, Connley D, Czene K, Darabi H, Chanock SJ, Lissowska J, Figueroa JD, Knight J, Glendon G, Mulligan AM, Dumont M, Severi G, Baglietto L, Olson J, Vachon C, Purrington K, et al.: Identification of new genetic susceptibility loci for breast cancer through consideration of gene-environment interactions. Genet Epidemiol 2014, 38:84-93.
• [13]Hein R, Beckmann L, Chang-Claude J: Sample size requirements for indirect association studies of gene-environment interactions (G x E). Genet Epidemiol 2008, 32:235-245.
• [14]Dudbridge F, Fletcher O: Gene-environment dependence creates spurious gene-environment interaction. Am J Hum Genet 2014, 95:301-307.
• [15]Johnson N, Walker K, Gibson LJ, Orr N, Folkerd E, Haynes B, Palles C, Coupland B, Schoemaker M, Jones M, Broderick P, Sawyer E, Kerin M, Tomlinson IP, Zvelebil M, Chilcott-Burns S, Tomczyk K, Simpson G, Williamson J, Hillier SG, Ross G, Houlston RS, Swerdlow A, Ashworth A, Dowsett M, Peto J, Dos Santos SI, Fletcher O: CYP3A variation, premenopausal estrone levels, and breast cancer risk. J Natl Cancer Inst 2012, 104:657-669.
• [16]Johnson N, Dudbridge F, Orr N, Gibson L, Jones ME, Schoemaker MJ, Folkerd EJ, Haynes BP, Hopper JL, Southey MC, Dite GS, Apicella C, Schmidt MK, Broeks A, Van T, Veer LJ, Atsma F, Muir K, Lophatananon A, Fasching PA, Beckmann MW, Ekici AB, Renner SP, Sawyer E, Tomlinson I, Kerin M, Miller N, Burwinkel B, Marme F, Schneeweiss A, et al.: Genetic variation at CYP3A is associated with age at menarche and breast cancer risk: a case–control study. Breast Cancer Res 2014, 16:R51. BioMed Central Full Text
• [17]Swerdlow AJ, Jones ME, Schoemaker MJ, Hemming J, Thomas D, Williamson J, Ashworth A: The Breakthrough Generations Study: design of a long-term UK cohort study to investigate breast cancer aetiology. Br J Cancer 2011, 105:911-917.
• [18]Easton DF, Pooley KA, Dunning AM, Pharoah PD, Thompson D, Ballinger DG, Struewing JP, Morrison J, Field H, Luben R, Wareham N, Ahmed S, Healey CS, Bowman R, Meyer KB, Haiman CA, Kolonel LK, Henderson BE, Le Marchand L, Brennan P, Sangrajrang S, Gaborieau V, Odefrey F, Shen CY, Wu PE, Wang HC, Eccles D, Evans DG, Peto J, et al.: Genome-wide association study identifies novel breast cancer susceptibility loci. Nature 2007, 447:1087-1093.
• [19]Hunter DJ, Kraft P, Jacobs KB, Cox DG, Yeager M, Hankinson SE, Wacholder S, Wang Z, Welch R, Hutchinson A, Wang J, Yu K, Chatterjee N, Orr N, Willett WC, Colditz GA, Ziegler RG, Berg CD, Buys SS, McCarty CA, Feigelson HS, Calle EE, Thun MJ, Hayes RB, Tucker M, Gerhard DS, Fraumeni JF Jr, Hoover RN, Thomas G, Chanock SJ: A genome-wide association study identifies alleles in FGFR2 associated with risk of sporadic postmenopausal breast cancer. Nat Genet 2007, 39:870-874.
• [20]Stacey SN, Manolescu A, Sulem P, Rafnar T, Gudmundsson J, Gudjonsson SA, Masson G, Jakobsdottir M, Thorlacius S, Helgason A, Aben KK, Strobbe LJ, Albers-Akkers MT, Swinkels DW, Henderson BE, Kolonel LN, Le Marchand L, Millastre E, Andres R, Godino J, Garcia-Prats MD, Polo E, Tres A, Mouy M, Saemundsdottir J, Backman VM, Gudmundsson L, Kristjansson K, Bergthorsson JT, Kostic J, et al.: Common variants on chromosomes 2q35 and 16q12 confer susceptibility to estrogen receptor-positive breast cancer. Nat Genet 2007, 39:865-869.