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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.

Authors
 Hyung-cheol Kim  ;  Ji-Young Lee  ;  Hyuna Sung  ;  Ji-Yeob Choi  ;  Sue K Park  ;  Kyoung-Mu Lee  ;  Young Jin Kim  ;  Min Jin Go  ;  Lian Li  ;  Yoon Shin Cho  ;  Miey Park  ;  Dong-Joon Kim  ;  Ji Hee Oh  ;  Jun-Woo Kim  ;  Jae-Pil Jeon  ;  Soon-Young Jeon  ;  Haesook Min  ;  Hyo Mi Kim  ;  Jaekyung Park  ;  Keun-Young Yoo  ;  Dong-Young Noh  ;  Sei-Hyun Ahn  ;  Min Hyuk Lee  ;  Sung-Won Kim  ;  Jong Won Lee  ;  Byeong-Woo Park  ;  Woong-Yang Park  ;  Eun-Hye Kim  ;  Mi Kyung 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 
Citation
 BREAST CANCER RESEARCH, Vol.14(2) : 56, 2012 
Journal Title
BREAST CANCER RESEARCH
ISSN
 1465-5411 
Issue Date
2012
MeSH
Asian Continental Ancestry Group/genetics ; Breast Neoplasms/genetics* ; Case-Control Studies ; Chromosomes, Human, Pair 2* ; Female ; Genetic Predisposition to Disease ; Genome-Wide Association Study* ; Humans ; Odds Ratio ; Polymorphism, Single Nucleotide* ; Receptor, Epidermal Growth Factor/genetics* ; Receptor, ErbB-4 ; Reproducibility of Results ; Republic of Korea
Keywords
Breast Cancer ; Estrogen Receptor ; Breast Cancer Risk ; Progesterone Receptor Status ; Korean Woman
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.
Files in This Item:
T201203537.pdf Download
DOI
22452962
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Surgery (외과학교실) > 1. Journal Papers
Yonsei Authors
Park, Byeong Woo(박병우) ORCID logo https://orcid.org/0000-0003-1353-2607
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/89812
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