Germline mutations in 40 cancer susceptibility genes among Chinese patients with high hereditary risk breast cancer,International Journal of Cancer

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Germline mutations in 40 cancer susceptibility genes among Chinese patients with high hereditary risk breast cancer
International Journal of Cancer ( IF 5.7 ) Pub Date : 2018-11-08 , DOI: 10.1002/ijc.31601
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

Affiliation

Department of Breast Surgery; Southwest Hospital, the Third Military Medical University; Chongqing 400038 China
Annoroad Gene Technology (Beijing) Co. Ltd; Beijing 100176 China
Department of Medical Oncology; Fujian Provincial Cancer Hospital; Fuzhou Fujian 350014 China
Department of Breast Surgery; The Affiliated Tumor Hospital of Xinjiang Medical University; Urumqi Xinjiang 830011 China
Department of Breast Surgery; Shanxi Cancer Hospital; Taiyuan Shanxi, 030013 China
Department of Thyroid and Breast Surgery; Changhai Hospital, Second Military Medical University; Shanghai 200433 China
Department of Breast Surgery; Liaoning Cancer Hospital and Institute; Shenyang Liaoning 110042 China
Department of Breast Surgery; Jilin Cancer Hospital & Institute; Changchun Jilin 130000 China
Department of General Surgery; Beijing Chaoyang Hospital Affiliated to Capital Medical University; Beijing 100020 China
Department of Breast Surgery; the First Affiliated Hospital of Xi'an Jiaotong University; Xi'an Shaanxi, 710061 China
Department of Breast; Cancer Center, Guangdong General Hospital, Guangdong Academy of Medical Sciences; Guangzhou Guangdong 510080 China
Department of Hepatobiliary and General Surgery; PLA No.202 Hospital; Shenyang Liaoning 110812 China
Department of Breast; Thyroid, and Pancreas Surgery, the Second Affiliated Hospital of Chongqing Medical University; Chongqing 400010 China
Depatement of Thyroid, Breast and Vascular Surgery; Xijing hospital, Forth Military University; Xi'an Shaanxi, 710032 China
Department of Breast surgery; Daping Hospital, Research Institute of Surgery, Third Military Medical University; Chongqing 400038 China
Department of Breast Surgery; the Second Affiliated Hospital of Harbin Medical College; Harbin Heilongjiang 150086 China
Hunan Cancer Hospital, Affiliated Cancer Hospital of Xiangya School of Medicine, Central South University; Changsha Hunan 4100013 China
Health Management Center, Sichuan Provincial People's Hospital; Chengdu Sichuan 610072 China
Department of Breast Surgery; Henan Cancer Hospital; Zhengzhou Henan 450008 China

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.

更新日期：2018-11-08

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