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

Cited 91 time in Web of Science Cited 99 time in Scopus
Authors
Kim, Hyung-cheol; Lee, Ji-Young; Sung, Hyuna; Choi, Ji-Yeob; Park, Sue K; Lee, Kyoung-Mu; Kim, Young Jin; Go, Min Jin; Li, Lian; Cho, Yoon Shin; Park, Miey; Kim, Dong-Joon; Oh, Ji Hee; Kim, Jun-Woo; Jeon, Jae-Pil; Jeon, Soon-Young; Min, Haesook; Kim, Hyo Mi; Park, Jaekyung; Yoo, Keun-Young; Noh, Dong-Young; Ahn, Sei-Hyun; Lee, Min Hyuk; Kim, Sung-Won; Lee, Jong Won; Park, Byeong-Woo; Park, Woong-Yang; Kim, Eun-Hye; Kim, Mi Kyung; Han, Wonshik; Lee, Sang-Ah; Matsuo, Keitaro; Shen, Chen-Yang; Wu, Pei-Ei; Hsiung, Chia-Ni; Lee, Jong-Young; Kim, Hyung-Lae; Han, Bok-Ghee; Kang, Daehee
Issue Date
2012-03-27
Publisher
BioMed Central
Citation
Breast Cancer Research, 14(2):R56
Description
This is an open access article distributed under the terms of the Creative Commons
Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in
any medium, provided the original work is properly cited.
Abstract
Abstract

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.
Language
English
URI
https://hdl.handle.net/10371/100400
DOI
https://doi.org/10.1186/bcr3158
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College of Medicine/School of Medicine (의과대학/대학원)Preventive Medicine (예방의학전공)Journal Papers (저널논문_예방의학전공)
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