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Int J Cancer. 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.

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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.


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

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