Genome-Wide Association Study of Breast Cancer in the Japanese Population

PLoS ONE

Volumn 8, Issue 10, 2013, Pages

  Low, Siew Kee ^a,b   Takahashi, Atsushi ^a   Ashikawa, Kyota ^a   Inazawa, Johji ^c   Miki, Yoshio ^d   Kubo, Michiaki ^a   Nakamura, Yusuke ^b,e   Katagiri, Toyomasa ^f  

^a Institute of Physical and Chemical Research   (Japan)

^b UNIVERSITY OF TOKYO   (Japan)

^c TOKYO MEDICAL AND DENTAL UNIVERSITY   (Japan)

^d CANCER INSTITUTE   (Japan)

^e UNIVERSITY OF CHICAGO   (United States)

^f UNIVERSITY OF TOKUSHIMA   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; ATF7IP GENE; BREAST CANCER; CONTROLLED STUDY; DISEASE ASSOCIATION; ESR1 GENE; FEMALE; FGFR2 GENE; GENE FREQUENCY; GENE IDENTIFICATION; GENETIC ASSOCIATION; GENETIC RISK; GENETIC VARIABILITY; GENOTYPE; HIGH RISK POPULATION; HUMAN; JAPANESE; LOGISTIC REGRESSION ANALYSIS; MAJOR CLINICAL STUDY; MRPS30 GENE; NUCLEOTIDE SEQUENCE; ONCOGENE; ONCOGENE MYC; PREDICTIVE VALUE; PRINCIPAL COMPONENT ANALYSIS; RISK ASSESSMENT; RPL17P33 GENE; SINGLE NUCLEOTIDE POLYMORPHISM; TOX3 GENE; VALIDATION STUDY; ZNF365 GENE; ASIAN CONTINENTAL ANCESTRY GROUP; BIOLOGY; BREAST TUMOR; CHROMOSOME 10; CHROMOSOME 16; GENE LOCUS; GENETICS; GENOTYPING TECHNIQUE; MIDDLE AGED;

ASIAN CONTINENTAL ANCESTRY GROUP; BREAST NEOPLASMS; CHROMOSOMES, HUMAN, PAIR 10; CHROMOSOMES, HUMAN, PAIR 16; COMPUTATIONAL BIOLOGY; FEMALE; GENETIC LOCI; GENOME-WIDE ASSOCIATION STUDY; GENOTYPING TECHNIQUES; HUMANS; MIDDLE AGED;

EID: 84885437928     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0076463     Document Type: Article

References (46)

1. Phipps AI, Chlebowski RT, Prentice R, McTiernan A, Wactawski-Wende J, et al. (2011) Reproductive history and oral contraceptive use in relation to risk of triple-negative breast cancer. J Natl Cancer Inst 103: 470-77.
2. Iodice S, Barile M, Rotmensz N, Feroce I, Bonanni B, et al. (2010) Oral contraceptive use and breast or ovarian cancer risk in BRCA1/2 carriers: a meta-analysis. Eur J Cancer 46: 2275-284.
3. Anderson GL, Limacher M, Assaf AR, Bassford T, Beresford SA, et al. (2004) Effects of conjugated equine estrogen in postmenopausal women with hysterectomy: the Women's Health Initiative randomized controlled trial. JAMA 291: 1701-712.
4. Hamajima N, Hirose K, Tajima K, Rohan T, Calle EE, et al. (2002) Alcohol, tobacco and breast cancer - llaborative reanalysis of individual data from 53 epidemiological studies, including 58,515 women with breast cancer and 95,067 women without the disease. Br J Cancer 87: 1234-245.
5. McTiernan A, (2003) Behavioral risk factors in breast cancer: can risk be modified? Oncologist 8: 326-334.
6. Islam T, Ito H, Sueta A, Hosono S, Hirose K, et al. (2012) Alcohol and dietary folate intake and the risk of breast cancer: a case-control study in Japan. Eur J Cancer Prev.
7. Chen J, Pee D, Ayyagari R, Graubard B, Schairer C, et al. (2006) Projecting absolute invasive breast cancer risk in white women with a model that includes mammographic density. J Natl Cancer Inst 98: 1215-1226.
8. Pharoah PD, Day NE, Duffy S, Easton DF, Ponder BA, (1997) Family history and the risk of breast cancer: a systematic review and meta-analysis. Int J Cancer 71: 800-809.
9. Miki Y, Swensen J, Shattuck-Eidens D, Futreal PA, Harshman K, et al. (1994) A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. Science 266: 66-71.
10. Wooster R, Bignell G, Lancaster J, Swift S, Seal S, et al. (1995) Identification of the breast cancer susceptibility gene BRCA2. Nature 378: 789-792.
11. Renwick A, Thompson D, Seal S, Kelly P, Chagtai T, et al. (2006) ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles. Nat Genet 38: 873-875.
12. Coles C, Condie A, Chetty U, Steel CM, Evans HJ, et al. (1992) p53 mutations in breast cancer. Cancer Res 52: 5291-5298.
13. Consortium CBCC-C, (2004) CHEK2*1100delC and susceptibility to breast cancer: a collaborative analysis involving 10,860 breast cancer cases and 9,065 controls from 10 studies. Am J Hum Genet 74: 1175-1182.
14. Liaw D, Marsh DJ, Li J, Dahia PL, Wang SI, et al. (1997) Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrome. Nat Genet 16: 64-67.
15. Berx G, Cleton-Jansen AM, Nollet F, de Leeuw WJ, van de Vijver M, et al. (1995) E-cadherin is a tumour/invasion suppressor gene mutated in human lobular breast cancers. EMBO J 14: 6107-6115.
16. Hearle N, Schumacher V, Menko FH, Olschwang S, Boardman LA, et al. (2006) Frequency and spectrum of cancers in the Peutz-Jeghers syndrome. Clin Cancer Res 12: 3209-3215.
17. Hofstatter EW, Domchek SM, Miron A, Garber J, Wang M, et al. (2011) PALB2 mutations in familial breast and pancreatic cancer. Fam Cancer 10: 225-231.
18. Easton DF, Pooley KA, Dunning AM, Pharoah PD, Thompson D, et al. (2007) Genome-wide association study identifies novel breast cancer susceptibility loci. Nature 447: 1087-1093.
19. Hunter DJ, Kraft P, Jacobs KB, Cox DG, Yeager M, et al. (2007) A genome-wide association study identifies alleles in FGFR2 associated with risk of sporadic postmenopausal breast cancer. Nat Genet 39: 870-874.
20. Stacey SN, Manolescu A, Sulem P, Rafnar T, Gudmundsson J, et al. (2007) Common variants on chromosomes 2q35 and 16q12 confer susceptibility to estrogen receptor-positive breast cancer. Nat Genet 39: 865-869.
21. Stacey SN, Manolescu A, Sulem P, Thorlacius S, Gudjonsson SA, et al. (2008) Common variants on chromosome 5p12 confer susceptibility to estrogen receptor-positive breast cancer. Nat Genet 40: 703-706.
22. Zheng W, Long J, Gao YT, Li C, Zheng Y, et al. (2009) Genome-wide association study identifies a new breast cancer susceptibility locus at 6q25.1. Nat Genet 41: 324-328.
23. Thomas G, Jacobs KB, Kraft P, Yeager M, Wacholder S, et al. (2009) A multistage genome-wide association study in breast cancer identifies two new risk alleles at 1p11.2 and 14q24.1 (RAD51L1). Nat Genet 41: 579-584.
24. Ahmed S, Thomas G, Ghoussaini M, Healey CS, Humphreys MK, et al. (2009) Newly discovered breast cancer susceptibility loci on 3p24 and 17q23.2. Nat Genet 41: 585-590.
25. Turnbull C, Ahmed S, Morrison J, Pernet D, Renwick A, et al. (2010) Genome-wide association study identifies five new breast cancer susceptibility loci. Nat Genet 42: 504-507.
26. Long J, Cai Q, Shu XO, Qu S, Li C, et al. (2010) Identification of a functional genetic variant at 16q12.1 for breast cancer risk: results from the Asia Breast Cancer Consortium. PLoS Genet 6: e1001002.
27. Fletcher O, Johnson N, Orr N, Hosking FJ, Gibson LJ, et al. (2011) Novel breast cancer susceptibility locus at 9q31.2: results of a genome-wide association study. J Natl Cancer Inst 103: 425-435.
28. Cai Q, Long J, Lu W, Qu S, Wen W, et al. (2011) Genome-wide association study identifies breast cancer risk variant at 10q21.2: results from the Asia Breast Cancer Consortium. Hum Mol Genet 20: 4991-4999.
29. Long J, Cai Q, Sung H, Shi J, Zhang B, et al. (2012) Genome-wide association study in east Asians identifies novel susceptibility loci for breast cancer. PLoS Genet 8: e1002532.
30. Ghoussaini M, Fletcher O, Michailidou K, Turnbull C, Schmidt MK, et al. (2012) Genome-wide association analysis identifies three new breast cancer susceptibility loci. Nat Genet 44: 312-318.
31. Lindstrom S, Vachon CM, Li J, Varghese J, Thompson D, et al. (2011) Common variants in ZNF365 are associated with both mammographic density and breast cancer risk. Nat Genet 43: 185-187.
32. Michailidou K, Hall P, Gonzalez-Neira A, Ghoussaini M, Dennis J, et al. (2013) Large-scale genotyping identifies 41 new loci associated with breast cancer risk. Nat Genet 45: 353-361, 361e351-352.
33. Li J, Humphreys K, Heikkinen T, Aittomaki K, Blomqvist C, et al. (2011) A combined analysis of genome-wide association studies in breast cancer. Breast Cancer Res Treat 126: 717-727.
34. Haiman CA, Chen GK, Vachon CM, Canzian F, Dunning A, et al. (2011) A common variant at the TERT-CLPTM1L locus is associated with estrogen receptor-negative breast cancer. Nat Genet 43: 1210-1214.
35. Elgazzar S, Zembutsu H, Takahashi A, Kubo M, Aki F, et al. (2012) A genome-wide association study identifies a genetic variant in the SIAH2 locus associated with hormonal receptor-positive breast cancer in Japanese. J Hum Genet 57: 766-771.
36. Ohnishi Y, Tanaka T, Ozaki K, Yamada R, Suzuki H, et al. (2001) A high-throughput SNP typing system for genome-wide association studies. J Hum Genet 46: 471-477.
37. Liang J, Chen P, Hu Z, Zhou X, Chen L, et al. (2008) Genetic variants in fibroblast growth factor receptor 2 (FGFR2) contribute to susceptibility of breast cancer in Chinese women. Carcinogenesis 29: 2341-2346.
38. Gold B, Kirchhoff T, Stefanov S, Lautenberger J, Viale A, et al. (2008) Genome-wide association study provides evidence for a breast cancer risk locus at 6q22.33. Proc Natl Acad Sci U S A 105: 4340-4345.
39. Raskin L, Pinchev M, Arad C, Lejbkowicz F, Tamir A, et al. (2008) FGFR2 is a breast cancer susceptibility gene in Jewish and Arab Israeli populations. Cancer Epidemiol Biomarkers Prev 17: 1060-1065.
40. Bates CM, (2007) Role of fibroblast growth factor receptor signaling in kidney development. Pediatr Nephrol 22: 343-349.
41. Parsa S, Ramasamy SK, De Langhe S, Gupte VV, Haigh JJ, et al. (2008) Terminal end bud maintenance in mammary gland is dependent upon FGFR2b signaling. Dev Biol 317: 121-131.
42. Meyer KB, Maia AT, O'Reilly M, Teschendorff AE, Chin SF, et al. (2008) Allele-specific up-regulation of FGFR2 increases susceptibility to breast cancer. PLoS Biol 6: e108.
43. Zhu X, Asa SL, Ezzat S, (2009) Histone-acetylated control of fibroblast growth factor receptor 2 intron 2 polymorphisms and isoform splicing in breast cancer. Mol Endocrinol 23: 1397-1405.
44. Yuan SH, Qiu Z, Ghosh A, (2009) TOX3 regulates calcium-dependent transcription in neurons. Proc Natl Acad Sci U S A 106: 2909-2914.
45. Smid M, Wang Y, Klijn JG, Sieuwerts AM, Zhang Y, et al. (2006) Genes associated with breast cancer metastatic to bone. J Clin Oncol 24: 2261-2267.
46. Gudmundsdottir ET, Barkardottir RB, Arason A, Gunnarsson H, Amundadottir LT, et al. (2012) The risk allele of SNP rs3803662 and the mRNA level of its closest genes TOX3 and LOC643714 predict adverse outcome for breast cancer patients. BMC Cancer 12: 621.