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. 2019 Jan 15;144(2):281-289.
doi: 10.1002/ijc.31601. Epub 2018 Nov 8.

Germline mutations in 40 cancer susceptibility genes among Chinese patients with high hereditary risk breast cancer

Jun-Yan Li  1 , Ruilin Jing  2 , Hongyi Wei  1 , Minghao Wang  1 , Qi Xiaowei  1 , Haoxi Liu  1 , Liu Jian  3 , Jiang-Hua Ou  4 , Wei-Hua Jiang  4 , Fu-Guo Tian  5 , Yuan Sheng  6 , Heng-Yu Li  6 , Hong Xu  7 , Rui-Shan Zhang  7 , Ai-Hua Guan  8 , Ke Liu  8 , Hong-Chuan Jiang  9 , Yu Ren  10 , Jian-Jun He  10 , Weiwei Huang  3 , Ning Liao  11 , Xiangjun Cai  12 , Jia Ming  13 , Rui Ling  14 , Yan Xu  15 , Chun-Yan Hu  15 , Jianguo Zhang  16 , Baoliang Guo  16 , Lizhi Ouyang  17 , Ping Shuai  18 , Zhenzhen Liu  19 , Ling Zhong  1 , Zhen Zeng  1 , Ting Zhang  1 , Zhaoling Xuan  2 , Xuanni Tan  1 , Junbin Liang  2 , Qinwen Pan  1 , Li Chen  1 , Fan Zhang  1 , Lin-Jun Fan  1 , Yi Zhang  1 , Xinhua Yang  1 , Jing BoLi  1 , Chongjian Chen  2 , Jun Jiang  1
Affiliations

Germline mutations in 40 cancer susceptibility genes among Chinese patients with high hereditary risk breast cancer

Jun-Yan Li et al. Int J Cancer. .

Abstract

Multigene panel testing of breast cancer predisposition genes have been extensively conducted in Europe and America, which is relatively rare in Asia however. In this study, we assessed the frequency of germline mutations in 40 cancer predisposition genes, including BRCA1 and BRCA2, among a large cohort of Chinese patients with high hereditary risk of BC. From 2015 to 2016, consecutive BC patients from 26 centers of China with high hereditary risk were recruited (n = 937). Clinical information was collected and next-generation sequencing (NGS) was performed using blood samples of participants to identify germline mutations. In total, we acquired 223 patients with putative germline mutations, including 159 in BRCA1/2, 61 in 15 other BC susceptibility genes and 3 in both BRCA1/2 and non-BRCA1/2 gene. Major mutant non-BRCA1/2 genes were TP53 (n = 18), PALB2 (n = 11), CHEK2 (n = 6), ATM (n = 6) and BARD1 (n = 5). No factors predicted pathologic mutations in non-BRCA1/2 genes when treated as a whole. TP53 mutations were associated with HER-2 positive BC and younger age at diagnosis; and CHEK2 and PALB2 mutations were enriched in patients with luminal BC. Among high hereditary risk Chinese BC patients, 23.8% contained germline mutations, including 6.8% in non-BRCA1/2 genes. TP53 and PALB2 had a relatively high mutation rate (1.9 and 1.2%). Although no factors predicted for detrimental mutations in non-BRCA1/2 genes, some clinical features were associated with mutations of several particular genes.

Keywords: Chinese population; breast cancer; cancer susceptibility genes; germline mutations; multiple-gene sequencing.

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