Please use this identifier to cite or link to this item: https://scholarbank.nus.edu.sg/handle/10635/209276
Title: Evaluating genetic variants associated with breast cancer risk in high and moderate-penetrance genes in Asians
Authors: Han, Mi-Ryung
Zheng, Wei
Cai, Qiuyin
Gao, Yu-Tang
Zheng, Ying
Bolla, Manjeet K
Michailidou, Kyriaki
Dennis, Joe
Wang, Qin
Dunning, Alison M
Brennan, Paul
Chen, Shou-Tung
Choi, Ji-Yeob
Hartman, Mikael 
Ito, Hidemi
Lophatananon, Artitaya
Matsuo, Keitaro
Miao, Hui
Muir, Kenneth
Sangrajrang, Suleeporn
Shen, Chen-Yang
Teo, Soo Hwang
Tseng, Chiu-chen
Wu, Anna H
Yip, Cheng Har
Kang, Daehee
Xiang, Yong-Bing
Easton, Douglas F
Shu, Xiao-Ou
Long, Jirong
Keywords: Science & Technology
Life Sciences & Biomedicine
Oncology
GENOME-WIDE ASSOCIATION
HAMARTOMA TUMOR SYNDROME
SUSCEPTIBILITY LOCI
OVARIAN-CANCER
GENOTYPE IMPUTATION
BRCA2
MUTATIONS
POLYMORPHISMS
METAANALYSIS
CHEK2
Issue Date: 1-May-2017
Publisher: OXFORD UNIV PRESS
Citation: Han, Mi-Ryung, Zheng, Wei, Cai, Qiuyin, Gao, Yu-Tang, Zheng, Ying, Bolla, Manjeet K, Michailidou, Kyriaki, Dennis, Joe, Wang, Qin, Dunning, Alison M, Brennan, Paul, Chen, Shou-Tung, Choi, Ji-Yeob, Hartman, Mikael, Ito, Hidemi, Lophatananon, Artitaya, Matsuo, Keitaro, Miao, Hui, Muir, Kenneth, Sangrajrang, Suleeporn, Shen, Chen-Yang, Teo, Soo Hwang, Tseng, Chiu-chen, Wu, Anna H, Yip, Cheng Har, Kang, Daehee, Xiang, Yong-Bing, Easton, Douglas F, Shu, Xiao-Ou, Long, Jirong (2017-05-01). Evaluating genetic variants associated with breast cancer risk in high and moderate-penetrance genes in Asians. CARCINOGENESIS 38 (5) : 511-518. ScholarBank@NUS Repository.
Abstract: Over the past 20 years, high-penetrance pathogenic mutations in genes BRCA1, BRCA2, TP53, PTEN, STK11 and CDH1 and moderate-penetrance mutations in genes CHEK2, ATM, BRIP1, PALB2, RAD51C, RAD50 and NBN have been identified for breast cancer. In this study, we investigated whether there are additional variants in these 13 genes associated with breast cancer among women of Asian ancestry. We analyzed up to 654 single nucleotide polymorphisms (SNPs) from 6269 cases and 6624 controls of Asian descent included in the Breast Cancer Association Consortium (BCAC), and up to 236 SNPs from 5794 cases and 5529 controls included in the Shanghai Breast Cancer Genetics Study (SBCGS). We found three missense variants with minor allele frequency (MAF) <0.05: rs80358978 (Gly2508Ser), rs80359065 (Lys2729Asn) and rs11571653 (Met784Val) in the BRCA2 gene, showing statistically significant associations with breast cancer risk, with P-values of 1.2 × 10-4, 1.0 × 10-3 and 5.0 × 10-3, respectively. In addition, we found four low-frequency variants (rs8176085, rs799923, rs8176173 and rs8176258) in the BRCA1 gene, one common variant in the CHEK2 gene (rs9620817), and one common variant in the PALB2 gene (rs13330119) associated with breast cancer risk at P < 0.01. Our study identified several new risk variants in BRCA1, BRCA2, CHEK2, and PALB2 genes in relation to breast cancer risk in Asian women. These results provide further insights that, in addition to the high/moderate penetrance mutations, other low-penetrance variants in these genes may also contribute to breast cancer risk.
Source Title: CARCINOGENESIS
URI: https://scholarbank.nus.edu.sg/handle/10635/209276
ISSN: 01433334
14602180
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