Prevalence of BRCA1 and BRCA2 gene mutations in Chinese patients with high‐risk breast cancer
Abstract Background Breast cancer is the most common cancer among women worldwide. Here, we report the prevalence of BRCA1/2 mutations in patients with high‐risk breast cancer from Inner Mongolia and Jilin, China, which was a part of a nationwide project on the detection of BRCA1/2 mutations in Chin...
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Wiley
2019-06-01
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Series: | Molecular Genetics & Genomic Medicine |
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Online Access: | https://doi.org/10.1002/mgg3.677 |
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Article |
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DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Xiaozhen Wang Haimeng Liu Amina Maimaitiaili Gang Zhao Sijie Li Zheng Lv Di Wu Aiping Shi Xin Guan Hongyao Jia Menghan Li Dong Song Lihua Kang Bing Han Tong Fu Ming Yang Zhu Zhu Ye Du Yanqiu Song Jinghui Hong Zhimin Fan |
spellingShingle |
Xiaozhen Wang Haimeng Liu Amina Maimaitiaili Gang Zhao Sijie Li Zheng Lv Di Wu Aiping Shi Xin Guan Hongyao Jia Menghan Li Dong Song Lihua Kang Bing Han Tong Fu Ming Yang Zhu Zhu Ye Du Yanqiu Song Jinghui Hong Zhimin Fan Prevalence of BRCA1 and BRCA2 gene mutations in Chinese patients with high‐risk breast cancer Molecular Genetics & Genomic Medicine BRCA1; BRCA2; mutation; breast cancer |
author_facet |
Xiaozhen Wang Haimeng Liu Amina Maimaitiaili Gang Zhao Sijie Li Zheng Lv Di Wu Aiping Shi Xin Guan Hongyao Jia Menghan Li Dong Song Lihua Kang Bing Han Tong Fu Ming Yang Zhu Zhu Ye Du Yanqiu Song Jinghui Hong Zhimin Fan |
author_sort |
Xiaozhen Wang |
title |
Prevalence of BRCA1 and BRCA2 gene mutations in Chinese patients with high‐risk breast cancer |
title_short |
Prevalence of BRCA1 and BRCA2 gene mutations in Chinese patients with high‐risk breast cancer |
title_full |
Prevalence of BRCA1 and BRCA2 gene mutations in Chinese patients with high‐risk breast cancer |
title_fullStr |
Prevalence of BRCA1 and BRCA2 gene mutations in Chinese patients with high‐risk breast cancer |
title_full_unstemmed |
Prevalence of BRCA1 and BRCA2 gene mutations in Chinese patients with high‐risk breast cancer |
title_sort |
prevalence of brca1 and brca2 gene mutations in chinese patients with high‐risk breast cancer |
publisher |
Wiley |
series |
Molecular Genetics & Genomic Medicine |
issn |
2324-9269 |
publishDate |
2019-06-01 |
description |
Abstract Background Breast cancer is the most common cancer among women worldwide. Here, we report the prevalence of BRCA1/2 mutations in patients with high‐risk breast cancer from Inner Mongolia and Jilin, China, which was a part of a nationwide project on the detection of BRCA1/2 mutations in Chinese patients with hereditary breast cancer. Methods According to the criteria, index patients from a total of 245 independent families were initially recruited. All 49 exons of BRCA1 and BRCA2 and adjacent noncoding regions were screened for mutations based on next‐generation sequencing from collected saliva. Results We detected 17 BRCA1/2 variants in 18 of 216 (8.3%) index patients with high‐risk breast cancer. Among these, seven mutations were novel, including four BRCA1 mutations (c.123_124delCAinsAT, c.5093_5096delCTAA, c.5396‐2A>G, and c.2054delinsGAAGAGTAACAAGTAAGAAGAGTAACAAGAAG), and three BRCA2 mutations (c.304A>T, c.7552_7553insT, and c.9548_9549insA). The BRCA1/2 variants were identified in 14% (8/57) of the patients with triple‐negative breast cancer and in 6.3% (10/159) of the patients with non‐triple‐negative breast cancer. There was no significant difference between the two groups (p = 0.07). A higher frequency for BRCA1 mutations was observed in patients with triple‐negative breast cancer than in those with non‐triple‐negative breast cancer (12.3% vs. 2.5%, p = 0.004). The frequencies of the BRCA2 mutations were not significantly different between patients with triple‐negative breast cancer and those with non‐triple‐negative breast cancer (1.8% vs. 3.8%, p = 0.46). Conclusion We found that patients with triple‐negative breast cancer had a higher frequency of BRCA1 mutations than those with non‐triple‐negative breast cancer. In this study, no significant associations between the BRCA1/2 mutation status and age, family history of breast cancer, ovarian cancer, pancreatic cancer and prostate cancer, number of primary lesions, tumor size, or lymph node metastasis were observed. |
topic |
BRCA1; BRCA2; mutation; breast cancer |
url |
https://doi.org/10.1002/mgg3.677 |
work_keys_str_mv |
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doaj-5fbba6e1695342f3b5cd9064aa6024c42020-11-25T00:31:13ZengWileyMolecular Genetics & Genomic Medicine2324-92692019-06-0176n/an/a10.1002/mgg3.677Prevalence of BRCA1 and BRCA2 gene mutations in Chinese patients with high‐risk breast cancerXiaozhen Wang0Haimeng Liu1Amina Maimaitiaili2Gang Zhao3Sijie Li4Zheng Lv5Di Wu6Aiping Shi7Xin Guan8Hongyao Jia9Menghan Li10Dong Song11Lihua Kang12Bing Han13Tong Fu14Ming Yang15Zhu Zhu16Ye Du17Yanqiu Song18Jinghui Hong19Zhimin Fan20Department of Breast Surgery The First Hospital of Jilin University Changchun ChinaDepartment of Breast Surgery The First Hospital of Jilin University Changchun ChinaDepartment of Breast Surgery The First Hospital of Jilin University Changchun ChinaDepartment of Breast Surgery The First Hospital of Jilin University Changchun ChinaDepartment of Breast Surgery The First Hospital of Jilin University Changchun ChinaCancer Center of the First Hospital of Jilin University The First Hospital of Jilin University Changchun ChinaDepartment of Breast Surgery The First Hospital of Jilin University Changchun ChinaDepartment of Breast Surgery The First Hospital of Jilin University Changchun ChinaDepartment of Breast Surgery The First Hospital of Jilin University Changchun ChinaDepartment of Breast Surgery The First Hospital of Jilin University Changchun ChinaDepartment of Breast Surgery The First Hospital of Jilin University Changchun ChinaDepartment of Breast Surgery The First Hospital of Jilin University Changchun ChinaCancer Center of the First Hospital of Jilin University The First Hospital of Jilin University Changchun ChinaDepartment of Breast Surgery The First Hospital of Jilin University Changchun ChinaDepartment of Breast Surgery The First Hospital of Jilin University Changchun ChinaDepartment of Breast Surgery The First Hospital of Jilin University Changchun ChinaDepartment of Breast Surgery The First Hospital of Jilin University Changchun ChinaDepartment of Breast Surgery The First Hospital of Jilin University Changchun ChinaCancer Center of the First Hospital of Jilin University The First Hospital of Jilin University Changchun ChinaDepartment of Breast Surgery The First Hospital of Jilin University Changchun ChinaDepartment of Breast Surgery The First Hospital of Jilin University Changchun ChinaAbstract Background Breast cancer is the most common cancer among women worldwide. Here, we report the prevalence of BRCA1/2 mutations in patients with high‐risk breast cancer from Inner Mongolia and Jilin, China, which was a part of a nationwide project on the detection of BRCA1/2 mutations in Chinese patients with hereditary breast cancer. Methods According to the criteria, index patients from a total of 245 independent families were initially recruited. All 49 exons of BRCA1 and BRCA2 and adjacent noncoding regions were screened for mutations based on next‐generation sequencing from collected saliva. Results We detected 17 BRCA1/2 variants in 18 of 216 (8.3%) index patients with high‐risk breast cancer. Among these, seven mutations were novel, including four BRCA1 mutations (c.123_124delCAinsAT, c.5093_5096delCTAA, c.5396‐2A>G, and c.2054delinsGAAGAGTAACAAGTAAGAAGAGTAACAAGAAG), and three BRCA2 mutations (c.304A>T, c.7552_7553insT, and c.9548_9549insA). The BRCA1/2 variants were identified in 14% (8/57) of the patients with triple‐negative breast cancer and in 6.3% (10/159) of the patients with non‐triple‐negative breast cancer. There was no significant difference between the two groups (p = 0.07). A higher frequency for BRCA1 mutations was observed in patients with triple‐negative breast cancer than in those with non‐triple‐negative breast cancer (12.3% vs. 2.5%, p = 0.004). The frequencies of the BRCA2 mutations were not significantly different between patients with triple‐negative breast cancer and those with non‐triple‐negative breast cancer (1.8% vs. 3.8%, p = 0.46). Conclusion We found that patients with triple‐negative breast cancer had a higher frequency of BRCA1 mutations than those with non‐triple‐negative breast cancer. In this study, no significant associations between the BRCA1/2 mutation status and age, family history of breast cancer, ovarian cancer, pancreatic cancer and prostate cancer, number of primary lesions, tumor size, or lymph node metastasis were observed.https://doi.org/10.1002/mgg3.677BRCA1; BRCA2; mutation; breast cancer |