Genome-wide association study in East Asians identifies novel susceptibility loci for breast cancer

PLoS Genetics

Volumn 8, Issue 2, 2012, Pages

  Long, Jirong ^a   Cai, Qiuyin ^a   Sung, Hyuna ^b   Shi, Jiajun ^a   Zhang, Ben ^a   Choi, Ji Yeob ^b   Wen, Wanqing ^a   Delahanty, Ryan J ^a   Lu, Wei ^c   Gao, Yu Tang ^d   Shen, Hongbing ^e   Park, Sue K ^b   Chen, Kexin ^f   Shen, Chen Yang ^g,h   Ren, Zefang ⁱ   Haiman, Christopher A ^j   Matsuo, Keitaro ^k   Kim, Mi Kyung ^l,m   Khoo, Ui Soon ⁿ   Iwasaki, Motoki ^o   Zheng, Ying ^c   Xiang, Yong Bing ^d   Gu, Kai ^c   Rothman, Nathaniel ^p   Wang, Wenjing ^c   Hu, Zhibin ^e   Liu, Yao ^e   Yoo, Keun Young ^b   Noh, Dong Young ^b   Han, Bok Ghee ^q   Lee, Min Hyuk ^r   Zheng, Hong ^f   Zhang, Lina ^f   Wu, Pei Ei ^g   Shieh, Ya Lan ^g   Chan, Sum Yin ^s   Wang, Shenming ⁱ   Xie, Xiaoming ⁱ   Kim, Sung Won ^b   Henderson, Brian E ^j   Le Marchand, Loic ^t   Ito, Hidemi ^k   Kasuga, Yoshio ^u   Ahn, Sei Hyun ^l,m   Kang, Han Sung ^l,m   Chan, Kelvin Y K ⁿ   Iwata, Hiroji ^k   Tsugane, Shoichiro ^o   Li, Chun ^v   Shu, Xiao Ou ^a   Kang, Dae Hee ^b   Zheng, Wei ^a   more..

^a VANDERBILT INGRAM CANCER CENTER   (United States)

^b Seoul National University College of Medicine   (South Korea)

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

^d SHANGHAI CANCER INSTITUTE   (China)

^e NANJING MEDICAL UNIVERSITY   (China)

^f TIANJIN MEDICAL UNIVERSITY   (China)

^g INSTITUTE OF BIOMEDICAL SCIENCES   (Taiwan)

^h CHINA MEDICAL UNIVERSITY   (Taiwan)

ⁱ SUN YAT SEN UNIVERSITY   (China)

^j UNIVERSITY OF SOUTHERN CALIFORNIA   (United States)

^k AICHI CANCER CENTER HOSPITAL   (Japan)

^l National Cancer Center   (South Korea)

^m University of Ulsan College of Medicine   (South Korea)

ⁿ UNIVERSITY OF HONG KONG   (Hong Kong)

^o NATIONAL CANCER CENTER   (Japan)

^p NATIONAL CANCER INSTITUTE   (United States)

^q Korea National Institute of Health   (South Korea)

^r Soonchunhyang University College of Medicine   (South Korea)

^s QUEEN MARY HOSPITAL   (Hong Kong)

^t UNIVERSITY OF HAWAII CANCER CENTER   (United States)

^u Nagano Matsushiro General Hospital   (Japan)

^v VANDERBILT UNIVERSITY SCHOOL OF MEDICINE   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; ASIAN; BREAST CANCER; CANCER RISK; CANCER STAGING; CHINESE; CHROMOSOME 11Q; CHROMOSOME 6Q; CONTROLLED STUDY; EAST ASIAN; ESR1 GENE; ETHNIC GROUP; FEMALE; GENE; GENE LOCUS; GENE REPLICATION; GENETIC ASSOCIATION; GENETIC SUSCEPTIBILITY; GENOTYPE; HUMAN; INTRON; JAPANESE; KOREAN; MAJOR CLINICAL STUDY; SINGLE NUCLEOTIDE POLYMORPHISM; TAB2 GENE; ADULT; BREAST TUMOR; CHROMOSOME 11; CHROMOSOME 6; FAR EAST; GENETIC PREDISPOSITION; GENETICS; MIDDLE AGED;

ESTROGEN RECEPTOR ALPHA; ESTROGEN RECEPTOR ALPHA, HUMAN; SIGNAL TRANSDUCING ADAPTOR PROTEIN; TAB2 PROTEIN, HUMAN;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ADULT; ASIAN CONTINENTAL ANCESTRY GROUP; BREAST NEOPLASMS; CHROMOSOMES, HUMAN, PAIR 11; CHROMOSOMES, HUMAN, PAIR 6; ESTROGEN RECEPTOR ALPHA; FAR EAST; FEMALE; GENETIC LOCI; GENETIC PREDISPOSITION TO DISEASE; GENOME-WIDE ASSOCIATION STUDY; HUMANS; MIDDLE AGED;

EID: 84859197861     PISSN: 15537390     EISSN: 15537404     Source Type: Journal    
DOI: 10.1371/journal.pgen.1002532     Document Type: Article

References (36)

1. Nathanson KL, Wooster R, Weber BL, (2001) Breast cancer genetics: what we know and what we need. Nat Med 7: 552-556.
2. Zhang B, Beeghly-Fadiel A, Long J, Zheng W, (2011) Genetic variants associated with breast-cancer risk: comprehensive research synopsis, meta-analysis, and epidemiological evidence. Lancet Oncol 12: 477-488.
3. 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.
4. 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.
5. 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.
6. 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.
7. 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.
8. 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.
9. 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.
10. 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.
11. 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.
12. 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 doi:10.1371/journal.pgen.1001002.
13. Antoniou AC, Wang X, Fredericksen ZS, McGuffog L, Tarrell R, et al. (2010) A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population. Nat Genet % 19.
14. 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.
15. Fletcher O, Houlston RS, (2010) Architecture of inherited susceptibility to common cancer. Nat Rev Cancer 10: 353-361.
16. Zheng W, Cai Q, Signorello LB, Long J, Hargreaves MK, et al. (2009) Evaluation of 11 breast cancer susceptibility loci in African-American women. Cancer Epidemiol Biomarkers Prev 18: 2761-2764.
17. Zheng W, Wen W, Gao YT, Shyr Y, Zheng Y, et al. (2010) Genetic and clinical predictors for breast cancer risk assessment and stratification among Chinese women. J Natl Cancer Inst 102: 972-981.
18. Long J, Shu XO, Cai Q, Gao YT, Zheng Y, et al. (2010) Evaluation of breast cancer susceptibility loci in Chinese women. Cancer Epidemiol Biomarkers Prev 19: 2357-2365.
19. Benson JR, (2004) Role of transforming growth factor beta in breast carcinogenesis. Lancet Oncol 5: 229-239.
20. Davis RJ, (2000) Signal transduction by the JNK group of MAP kinases. Cell 103: 239-252.
21. Hinz M, Stilmann M, Arslan SC, Khanna KK, Dittmar G, et al. (2010) A cytoplasmic ATM-TRAF6-cIAP1 module links nuclear DNA damage signaling to ubiquitin-mediated NF-kappaB activation. Mol Cell 40: 63-74.
22. Dunbier AK, Anderson H, Ghazoui Z, Lopez-Knowles E, Pancholi S, et al. (2011) ESR1 Is Co-Expressed with Closely Adjacent Uncharacterised Genes Spanning a Breast Cancer Susceptibility Locus at 6q25.1. PLoS Genet 7: e1001382 doi:10.1371/journal.pgen.1001382.
23. Stacey SN, Sulem P, Zanon C, Gudjonsson SA, Thorleifsson G, et al. (2010) Ancestry-shift refinement mapping of the C6orf97-ESR1 breast cancer susceptibility locus. PLoS Genet 6: e1001029 doi:10.1371/journal.pgen.1001029.
24. Stevens TA, Meech R, (2006) BARX2 and estrogen receptor-alpha (ESR1) coordinately regulate the production of alternatively spliced ESR1 isoforms and control breast cancer cell growth and invasion. Oncogene 25: 5426-5435.
25. Sellar GC, Li L, Watt KP, Nelkin BD, Rabiasz GJ, et al. (2001) BARX2 induces cadherin 6 expression and is a functional suppressor of ovarian cancer progression. Cancer Res 61: 6977-6981.
26. Gao YT, Shu XO, Dai Q, Potter JD, Brinton LA, et al. (2000) Association of menstrual and reproductive factors with breast cancer risk: results from the Shanghai Breast Cancer Study. Int J Cancer 87: 295-300.
27. 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.
28. Zhang L, Gu L, Qian B, Hao X, Zhang W, et al. (2009) Association of genetic polymorphisms of ER-alpha and the estradiol-synthesizing enzyme genes CYP17 and CYP19 with breast cancer risk in Chinese women. Breast Cancer Res Treat 114: 327-338.
29. Ding SL, Yu JC, Chen ST, Hsu GC, Kuo SJ, et al. (2009) Genetic variants of BLM interact with RAD51 to increase breast cancer susceptibility. Carcinogenesis 30: 43-49.
30. Choi JY, Lee KM, Park SK, Noh DY, Ahn SH, et al. (2005) Association of paternal age at birth and the risk of breast cancer in offspring: a case control study. BMC Cancer 5: 143.
31. Cho YS, Go MJ, Kim YJ, Heo JY, Oh JH, et al. (2009) A large-scale genome-wide association study of Asian populations uncovers genetic factors influencing eight quantitative traits. Nat Genet 41: 527-534.
32. Han SA, Park SK, Hyun AS, Hyuk LM, Noh DY, et al. (2011) The Korean Hereditary Breast Cancer (KOHBRA) Study: Protocols and Interim Report. Clin Oncol (R Coll Radiol).
33. Kolonel LN, Henderson BE, Hankin JH, Nomura AM, Wilkens LR, et al. (2000) A multiethnic cohort in Hawaii and Los Angeles: baseline characteristics. Am J Epidemiol 151: 346-357.
34. Hamajima N, Matsuo K, Saito T, Hirose K, Inoue M, et al. (2001) Gene-environment Interactions and Polymorphism Studies of Cancer Risk in the Hospital-based Epidemiologic Research Program at Aichi Cancer Center II (HERPACC-II). Asian Pac J Cancer Prev 2: 99-107.
35. Itoh H, Iwasaki M, Hanaoka T, Kasuga Y, Yokoyama S, et al. (2009) Serum organochlorines and breast cancer risk in Japanese women: a case-control study. Cancer Causes Control 20: 567-580.
36. Price AL, Patterson NJ, Plenge RM, Weinblatt ME, Shadick NA, et al. (2006) Principal components analysis corrects for stratification in genome-wide association studies. Nat Genet 38: 904-909.