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Prevalence and Spectrum of BRCA1/2 Germline Mutations in Women with Breast Cancer in China Based on Next-Generation Sequencing
BACKGROUND: BRCA1 and BRCA2 (BRCA1/2) play important roles in the development of breast cancer, but information regarding BRCA1/2 mutations in Chinese females remains limited. The aim of this study was to investigate the prevalence and spectrum of BRCA1/2 mutations in China. MATERIAL/METHODS: In tot...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
International Scientific Literature, Inc.
2018
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5936051/ https://www.ncbi.nlm.nih.gov/pubmed/29681614 http://dx.doi.org/10.12659/MSM.905812 |
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author | Liang, Yi Yang, Xuexi Li, Hong Zhu, Anna Guo, Zhiwei Li, Ming |
author_facet | Liang, Yi Yang, Xuexi Li, Hong Zhu, Anna Guo, Zhiwei Li, Ming |
author_sort | Liang, Yi |
collection | PubMed |
description | BACKGROUND: BRCA1 and BRCA2 (BRCA1/2) play important roles in the development of breast cancer, but information regarding BRCA1/2 mutations in Chinese females remains limited. The aim of this study was to investigate the prevalence and spectrum of BRCA1/2 mutations in China. MATERIAL/METHODS: In total, 595 breast cancer patients in China were screened with an amplicon-based panel for the detection of BRCA1/2 mutations in coding regions using next-generation sequencing (NGS) with a Personal Genome Machine. Every pathogenic mutation detected was confirmed by Sanger sequencing. The disease-causing potential of variants of uncertain significance (VUS) was predicted using PolyPhen-2, SIFT, PhyloP, and Grantham. RESULTS: The prevalence of BRCA1/2 mutations was 8.07% in the Chinese population. Forty-two pathogenic mutations were identified in 48 cases (17 BRCA1 cases and 31 BRCA2 cases), including 19 novel mutations. Nine VUS were predicted to be deleterious by PolyPhen-2 and SIFT and subsequently predicted by PhyloP and Grantham for the evolutionary conservation. CONCLUSIONS: These results suggest that NGS is useful as a rapid, high-throughput, and cost-effective screening tool for the analysis of BRCA1/2 mutations. Based on this panel, we found that BRCA1/2 germline mutations in China exhibit distinct characteristics compared to those in Western populations. |
format | Online Article Text |
id | pubmed-5936051 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2018 |
publisher | International Scientific Literature, Inc. |
record_format | MEDLINE/PubMed |
spelling | pubmed-59360512018-05-07 Prevalence and Spectrum of BRCA1/2 Germline Mutations in Women with Breast Cancer in China Based on Next-Generation Sequencing Liang, Yi Yang, Xuexi Li, Hong Zhu, Anna Guo, Zhiwei Li, Ming Med Sci Monit Clinical Research BACKGROUND: BRCA1 and BRCA2 (BRCA1/2) play important roles in the development of breast cancer, but information regarding BRCA1/2 mutations in Chinese females remains limited. The aim of this study was to investigate the prevalence and spectrum of BRCA1/2 mutations in China. MATERIAL/METHODS: In total, 595 breast cancer patients in China were screened with an amplicon-based panel for the detection of BRCA1/2 mutations in coding regions using next-generation sequencing (NGS) with a Personal Genome Machine. Every pathogenic mutation detected was confirmed by Sanger sequencing. The disease-causing potential of variants of uncertain significance (VUS) was predicted using PolyPhen-2, SIFT, PhyloP, and Grantham. RESULTS: The prevalence of BRCA1/2 mutations was 8.07% in the Chinese population. Forty-two pathogenic mutations were identified in 48 cases (17 BRCA1 cases and 31 BRCA2 cases), including 19 novel mutations. Nine VUS were predicted to be deleterious by PolyPhen-2 and SIFT and subsequently predicted by PhyloP and Grantham for the evolutionary conservation. CONCLUSIONS: These results suggest that NGS is useful as a rapid, high-throughput, and cost-effective screening tool for the analysis of BRCA1/2 mutations. Based on this panel, we found that BRCA1/2 germline mutations in China exhibit distinct characteristics compared to those in Western populations. International Scientific Literature, Inc. 2018-04-23 /pmc/articles/PMC5936051/ /pubmed/29681614 http://dx.doi.org/10.12659/MSM.905812 Text en © Med Sci Monit, 2018 This work is licensed under Creative Common Attribution-NonCommercial-NoDerivatives 4.0 International (CC BY-NC-ND 4.0 (https://creativecommons.org/licenses/by-nc-nd/4.0/) ) |
spellingShingle | Clinical Research Liang, Yi Yang, Xuexi Li, Hong Zhu, Anna Guo, Zhiwei Li, Ming Prevalence and Spectrum of BRCA1/2 Germline Mutations in Women with Breast Cancer in China Based on Next-Generation Sequencing |
title | Prevalence and Spectrum of BRCA1/2 Germline Mutations in Women with Breast Cancer in China Based on Next-Generation Sequencing |
title_full | Prevalence and Spectrum of BRCA1/2 Germline Mutations in Women with Breast Cancer in China Based on Next-Generation Sequencing |
title_fullStr | Prevalence and Spectrum of BRCA1/2 Germline Mutations in Women with Breast Cancer in China Based on Next-Generation Sequencing |
title_full_unstemmed | Prevalence and Spectrum of BRCA1/2 Germline Mutations in Women with Breast Cancer in China Based on Next-Generation Sequencing |
title_short | Prevalence and Spectrum of BRCA1/2 Germline Mutations in Women with Breast Cancer in China Based on Next-Generation Sequencing |
title_sort | prevalence and spectrum of brca1/2 germline mutations in women with breast cancer in china based on next-generation sequencing |
topic | Clinical Research |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5936051/ https://www.ncbi.nlm.nih.gov/pubmed/29681614 http://dx.doi.org/10.12659/MSM.905812 |
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