A genome-wide association study identifies a breast cancer risk variant in ERBB4 at 2q34: Results from the Seoul Breast Cancer Study

Hyung cheol Kim, Ji Young Lee, Hyuna Sung, Ji Yeob Choi, Sue K. Park, Kyoung Mu Lee, Young J. Kim, Min J. Go, Lian Li, Yoon S. Cho, Miey Park, Dong Joon Kim, Ji H. Oh, Jun Woo Kim, Jae Pil Jeon, Soon Young Jeon, Haesook Min, Hyo M. Kim, Jaekyung Park, Keun Young YooDong Young Noh, Sei Hyun Ahn, Min H. Lee, Sung Won Kim, Jong W. Lee, Byeong Woo Park, Woong Yang Park, Eun Hye Kim, Mi K. Kim, Wonshik Han, Sang Ah Lee, Keitaro Matsuo, Chen Yang Shen, Pei Ei Wu, Chia Ni Hsiung, Jong Young Lee, Hyung Lae Kim, Bok Ghee Han, Daehee Kang

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Introduction: Although approximately 25 common genetic susceptibility loci have been identified to be independently associated with breast cancer risk through genome-wide association studies (GWAS), the genetic risk variants reported to date only explain a small fraction of the heritability of breast cancer. Furthermore, GWAS-identified loci were primarily identified in women of European descent.Methods: To evaluate previously identified loci in Korean women and to identify additional novel breast cancer susceptibility variants, we conducted a three-stage GWAS that included 6,322 cases and 5,897 controls.Results: In the validation study using Stage I of the 2,273 cases and 2,052 controls, seven GWAS-identified loci [5q11.2/MAP3K1 (rs889312 and rs16886165), 5p15.2/ROPN1L (rs1092913), 5q12/MRPS30 (rs7716600), 6q25.1/ESR1 (rs2046210 and rs3734802), 8q24.21 (rs1562430), 10q26.13/FGFR2 (rs10736303), and 16q12.1/TOX3 (rs4784227 and rs3803662)] were significantly associated with breast cancer risk in Korean women (Ptrend < 0.05). To identify additional genetic risk variants, we selected the most promising 17 SNPs in Stage I and replicated these SNPs in 2,052 cases and 2,169 controls (Stage II). Four SNPs were further evaluated in 1,997 cases and 1,676 controls (Stage III). SNP rs13393577 at chromosome 2q34, located in the Epidermal Growth Factor Receptor 4 (ERBB4) gene, showed a consistent association with breast cancer risk with combined odds ratios (95% CI) of 1.53 (1.37-1.70) (combined P for trend = 8.8 × 10-14).Conclusions: This study shows that seven breast cancer susceptibility loci, which were previously identified in European and/or Chinese populations, could be directly replicated in Korean women. Furthermore, this study provides strong evidence implicating rs13393577 at 2q34 as a new risk variant for breast cancer.

Original languageEnglish
Article numberR56
JournalBreast Cancer Research
Issue number2
StatePublished - 27 Mar 2012


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