Evaluation of functional genetic variants for breast cancer risk: Results from the Shanghai breast cancer study

American Journal of Epidemiology

Volumn 173, Issue 10, 2011, Pages 1159-1170

  Zhang, Ben ^a   Beeghly Fadiel, Alicia ^a   Lu, Wei ^b   Cai, Qiuyin ^a   Xiang, Yong Bing ^c   Zheng, Ying ^b   Long, Jirong ^a   Ye, Chuanzhong ^a   Gu, Kai ^b   Shu, Xiao Ou ^a   Gao, Yutang ^c   Zheng, Wei ^a  

^a VANDERBILT UNIVERSITY MEDICAL CENTER   (United States)

^b Shanghai Center for Disease Control and Prevention   (China)

^c SHANGHAI CANCER INSTITUTE   (China)

Author keywords

breast neoplasms; genetic; genetics; polymorphism; sex hormone binding globulin

Indexed keywords

BODY MASS; CANCER; GENETIC ANALYSIS; GENETIC VARIATION; GENOTYPE-ENVIRONMENT INTERACTION; HEALTH RISK; POLYMORPHISM; RISK FACTOR; SEX HORMONE;

ARTICLE; BODY MASS; BREAST CANCER; CANCER RISK; CHINA; CONTROLLED STUDY; FEMALE; GENETIC VARIABILITY; HETEROZYGOTE; HUMAN; MAJOR CLINICAL STUDY; MENOPAUSE; SINGLE NUCLEOTIDE POLYMORPHISM;

ADULT; AGE FACTORS; AGED; BODY MASS INDEX; BREAST NEOPLASMS; CASE-CONTROL STUDIES; CHINA; FEMALE; GENETIC ASSOCIATION STUDIES; GENOTYPE; HUMANS; MIDDLE AGED; POLYMORPHISM, SINGLE NUCLEOTIDE; RECEPTORS, CELL SURFACE; RISK FACTORS; YOUNG ADULT;

CHINA; SHANGHAI;

EID: 79955770933     PISSN: 00029262     EISSN: 14766256     Source Type: Journal    
DOI: 10.1093/aje/kwr004     Document Type: Article

References (59)

1. Parkin DM, Bray F, Ferlay J, et al. Global cancer statistics, 2002. CA Cancer J Clin. 2005;55(2):74-108. (Pubitemid 40372904)
2. Stratton MR, Rahman N. The emerging landscape of breast cancer susceptibility. Nat Genet. 2008;40(1):17-22.
3. Pharoah PD, Antoniou A, Bobrow M, et al. Polygenic susceptibility to breast cancer and implications for prevention. Nat Genet. 2002;31(1):33-36.
4. Easton DF, Pooley KA, Dunning AM, et al. Genome-wide association study identifies novel breast cancer susceptibility loci. Nature. 2007;447(7148):1087- 1093. (Pubitemid 47014426)
5. Hunter DJ, Kraft P, Jacobs KB,etal. A genome-wide association study identifies alleles in FGFR2 associated with risk of sporadic postmenopausal breast cancer. Nat Genet. 2007;39(7):870-874. (Pubitemid 47014500)
6. Stacey SN, Manolescu A, Sulem P, et al. Common variants on chromosomes 2q35 and 16q12 confer susceptibility to estrogen receptor-positive breast cancer. Nat Genet. 2007; 39(7):865-869. (Pubitemid 47014497)
7. Stacey SN, Manolescu A, Sulem P, et al. Common variants on chromosome 5p12 confer susceptibility to estrogen receptor-positive breast cancer. Nat Genet. 2008;40(6): 703-706. (Pubitemid 351748861)
8. Ahmed S, Thomas G, Ghoussaini M, et al. Newly discovered breast cancer susceptibility loci on 3p24 and 17q23.2. Nat Genet. 2009;41(5):585-590.
9. Thomas G, Jacobs KB, Kraft P, et al. A multistage genome-wide association study in breast cancer identifies two new risk alleles at 1p11.2 and 14q24.1 (RAD51L1). Nat Genet. 2009; 41(5):579-584.
10. Turnbull C, Ahmed S, Morrison J, et al. Genome-wide association study identifies five new breast cancer susceptibility loci. Nat Genet. 2010;42(6):504-507.
11. Zheng W, Long J, Gao YT, et al. Genome-wide association study identifies a new breast cancer susceptibility locus at 6q25.1. Nat Genet. 2009;41(3):324-328.
12. Long JR, Egan KM, Dunning L, et al. Population-based case-control study of AhR (aryl hydrocarbon receptor) and CYP1A2 polymorphisms and breast cancer risk. Pharmacogenet Genomics. 2006;16(4):237-243.
13. Ye C, Dai Q, Lu W, et al. Two-stage case-control study of common ATM gene variants in relation to breast cancer risk. Breast Cancer Res Treat. 2007;106(1):121-126. (Pubitemid 47498090)
14. Shu XO, Moore DB, Cai Q, et al. Association of cyclin D1 genotype with breast cancer risk and survival. Cancer Epidemiol Biomarkers Prev. 2005;14(1):91-97. (Pubitemid 40165288)
15. Cai Q, Shu XO, Jin F, et al. Genetic polymorphisms in the estrogen receptor alpha gene and risk of breast cancer: results from the Shanghai Breast Cancer Study. Cancer Epidemiol Biomarkers Prev. 2003;12(9):853-859. (Pubitemid 37151519)
16. Egan KM, Cai Q, Shu XO, et al. Genetic polymorphisms in GSTM1, GSTP1, and GSTT1 and the risk for breast cancer: results from the Shanghai Breast Cancer Study and meta-analysis. Cancer Epidemiol Biomarkers Prev. 2004;13(2): 197-204. (Pubitemid 38222549)
17. Shin A, Shu XO, Cai Q, et al. Genetic polymorphisms of the transforming growth factor-b1 gene and breast cancer risk: a possible dual role at different cancer stages. Cancer Epidemiol Biomarkers Prev. 2005;14(6):1567-1570. (Pubitemid 40807364)
18. Cui Y, Shu XO, Cai Q, et al. Association of breast cancer risk with a common functional polymorphism (Asp327Asn) in the sex hormone-binding globulin gene. Cancer Epidemiol Biomarkers Prev. 2005;14(5):1096-1101. (Pubitemid 40656453)
19. Dai Q, Cai QY, Shu XO, et al. Synergistic effects of STK15 gene polymorphisms and endogenous estrogen exposure in the risk of breast cancer. Cancer Epidemiol Biomarkers Prev. 2004;13(12):2065-2070. (Pubitemid 40054299)
20. Chan KY, Liu W, Long JR, et al. Functional polymorphisms in the BRCA1 promoter influence transcription and are associated with decreased risk for breast cancer in Chinese women. J Med Genet. 2009;46(1):32-39.
21. Zheng SL, Zheng W, Chang BL, et al. Joint effect of estrogen receptor beta sequence variants and endogenous estrogen exposure on breast cancer risk in Chinese women. Cancer Res. 2003;63(22):7624-7629. (Pubitemid 37466685)
22. Ren Z, Cai Q, Shu XO, et al. Genetic polymorphisms in the IGFBP3 gene: association with breast cancer risk and blood IGFBP-3 protein levels among Chinese women. Cancer Epidemiol Biomarkers Prev. 2004;13(8): 1290-1295. (Pubitemid 39071551)
23. Kataoka N, Cai Q, Wen W, et al. Population-based case-control study of VEGF gene polymorphisms and breast cancer risk among Chinese women. Cancer Epidemiol Biomarkers Prev. 2006;15(6):1148-1152.
24. Lee SA, Fowke JH, Lu W, et al. Cruciferous vegetables, the GSTP1 Ile105Val genetic polymorphism, and breast cancer risk. Am J Clin Nutr. 2008;87(3):753-760. (Pubitemid 351364558)
25. Sherry ST, Ward MH, Kholodov M, et al. dbSNP: the NCBI database of genetic variation. Nucleic Acids Res. 2001;29(1): 308-311. (Pubitemid 32054478)
26. Hubbard TJ, Aken BL, Beal K, et al. Ensembl 2007. Nucleic Acids Res. 2007;35(database issue):D610-D617. (Pubitemid 46056279)
27. Yuan HY, Chiou JJ, Tseng WH, et al. FASTSNP: an always up-to-date and extendable service for SNP function analysis and prioritization. Nucleic Acids Res. 2006;34(web server issue):W635-W641.
28. Lee PH, Shatkay H. F-SNP: computationally predicted functional SNPs for disease association studies. Nucleic Acids Res. 2008;36(database issue):D820-D824. (Pubitemid 351149829)
29. Lau J, Ioannidis JP, Schmid CH. Quantitative synthesis in systematic reviews. Ann Intern Med. 1997;127(9):820-826. (Pubitemid 27465551)
30. DerSimonian R, Laird N. Meta-analysis in clinical trials. Control Clin Trials. 1986;7(3):177-188. (Pubitemid 17189972)
31. WHO Expert Consultation. Appropriate body-mass index for Asian populations and its implications for policy and intervention strategies. Lancet. 2004;363(9403):157-163.
32. Kataoka N, Cai Q, Xu WH, et al. Association of endometrial cancer risk with a functional polymorphism (Asp(327)Asn) in the sex hormone-binding globulin gene. Cancer. 2007;109(7): 1296-1302. (Pubitemid 46466556)
33. Cousin P, Déchaud H, Grenot C, et al. Human variant sex hormone-binding globulin (SHBG) with an additional carbohydrate chain has a reduced clearance rate in rabbit. J Clin Endocrinol Metab. 1998;83(1):235-240. (Pubitemid 28498342)
34. Cousin P, Calemard-Michel L, Lejeune H, et al. Influence of SHBG gene pentanucleotide TAAAA repeat and D327N polymorphism on serum sex hormone-binding globulin concentration in hirsute women. J Clin Endocrinol Metab. 2004;89(2):917-924. (Pubitemid 38269911)
35. Thompson DJ, Healey CS, Baynes C, et al. Identification of common variants in the SHBG gene affecting sex hormone-binding globulin levels and breast cancer risk in postmenopausal women. Cancer Epidemiol Biomarkers Prev. 2008;17(12):3490-3498.
36. Haiman CA, Riley SE, Freedman ML, et al. Common genetic variation in the sex steroid hormone-binding globulin (SHBG) gene and circulating SHBG levels among postmenopausal women: the Multiethnic Cohort. J Clin Endocrinol Metab. 2005;90(4):2198-2204. (Pubitemid 40586262)
37. Key T, Appleby P, Barnes I, et al. Endogenous sex hormones and breast cancer in postmenopausal women: reanalysis of nine prospective studies. J Natl Cancer Inst. 2002;94(8): 606-616. (Pubitemid 34498648)
38. Foulkes WD. Inherited susceptibility to common cancers. N Engl J Med. 2008;359(20):2143-2153.
39. Li N, Dong J, Hu Z, et al. Potentially functional polymorphisms in ESR1 and breast cancer risk: a meta-analysis. Breast Cancer Res Treat. 2010;121(1):177-184.
40. Herrington DM, Howard TD, Brosnihan KB, et al. Common estrogen receptor polymorphism augments effects of hormone replacement therapy on E-selectin but not C-reactive protein. Circulation. 2002;105(16):1879-1882. (Pubitemid 34437611)
41. Ashton KA, Proietto A, Otton G, et al. Estrogen receptor polymorphisms and the risk of endometrial cancer. BJOG. 2009;116(8):1053-1061.
42. Wedrén S, Lovmar L, Humphreys K, et al. Estrogen receptor alpha gene polymorphism and endometrial cancer risk- a case-control study. BMC Cancer. 2008;8:322. (doi: 10.1186/ 1471-2407-8-322).
43. Katoh T, Yamano Y, Tsuji M, et al. Genetic polymorphisms of human cytosol glutathione S-transferases and prostate cancer. Pharmacogenomics. 2008;9(1):93-104. (Pubitemid 351560533)
44. Sergentanis TN, Economopoulos KP. GSTT1 and GSTP1 polymorphisms and breast cancer risk: a meta-analysis. Breast Cancer Res Treat. 2010;121(1):195-202.
45. Harper PA, Wong JY, Lam MS, et al. Polymorphisms in the human AH receptor. Chem Biol Interact. 2002;141(1-2): 161-187. (Pubitemid 35223210)
46. Sangrajrang S, Sato Y, Sakamoto H, et al. Genetic polymorphisms of estrogen metabolizing enzyme and breast cancer risk in Thai women. Int J Cancer. 2009;125(4):837-843.
47. Le Marchand L, Donlon T, Kolonel LN, et al. Estrogen metabolism-related genes and breast cancer risk: the Multiethnic Cohort Study. Cancer Epidemiol Biomarkers Prev. 2005;14(8):1998-2003. (Pubitemid 41161214)
48. Renwick A, Thompson D, Seal S, et al. ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles. Nat Genet. 2006;38(8):873-875. (Pubitemid 44141653)
49. Milne RL. Variants in the ATM gene and breast cancer susceptibility. Genome Med. 2009;1(1):12. (doi: 10.1186/gm12).
50. Tamimi RM, Hankinson SE, Spiegelman D, et al. Common ataxia telangiectasia mutated haplotypes and risk of breast cancer: a nested case-control study. Breast Cancer Res. 2004;6(4):R416-R422.
51. Einarsdóttir K, Rosenberg LU, Humphreys K, et al. Comprehensive analysis of the ATM, CHEK2 and ERBB2 genes in relation to breast tumour characteristics and survival: a population-based case-control and follow-up study. Breast Cancer Res. 2006;8(6):R67. (doi: 10.1186/bcr1623). (Pubitemid 350213863)
52. Tommiska J, Jansen L, Kilpivaara O, et al. ATM variants and cancer risk in breast cancer patients from Southern Finland. BMC Cancer. 2006;6:209. (doi: 10.1186/1471-2407-6-209). (Pubitemid 44530032)
53. Baynes C, Healey CS, Pooley KA, et al. Common variants in the ATM, BRCA1, BRCA2, CHEK2 and TP53 cancer susceptibility genes are unlikely to increase breast cancer risk. Breast Cancer Res. 2007;9(2):R27. (doi: 10.1186/bcr1669). (Pubitemid 350215160)
54. Lee KM, Choi JY, Park SK, et al. Genetic polymorphisms of ataxia telangiectasia mutated and breast cancer risk. Cancer Epidemiol Biomarkers Prev. 2005;14(4):821-825.
55. Lu C, Dong J, Ma H, et al. CCND1 G870A polymorphism contributes to breast cancer susceptibility: a meta-analysis. Breast Cancer Res Treat. 2009;116(3):571-575.
56. Shah R, Hurley CK, Posch PE. A molecular mechanism for the differential regulation of TGF-(51 expression due to the common SNP - 509C-T (c. - 1347C>T). Hum Genet. 2006;120(4):461-469. (Pubitemid 44669781)
57. Zheng W. Genetic polymorphisms in the transforming growth factor-beta signaling pathways and breast cancer risk and survival. Methods Mol Biol. 2009;472(1):265-277.
58. Niu W, Qi Y, Gao P, et al. Association of TGFB1 - 509 C>T polymorphism with breast cancer: evidence from a meta-analysis involving 23,579 subjects. Breast Cancer Res Treat. 2010;124(1):243-249.
59. Wacholder S, Chanock S, Garcia-Closas M, et al. Assessing the probability that a positive report is false: an approach for molecular epidemiology studies. J Natl Cancer Inst. 2004; 96(6):434-442. (Pubitemid 38443646)