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Prevalence of hereditary breast and ovarian cancer (HBOC) predisposition gene mutations among 882 HBOC high‐risk Chinese individuals
Identification of deleterious variants in hereditary breast and ovarian cancer (HBOC) susceptibility genes allows for increased clinical surveillance and early detection, and could predict the response to poly (ADP‐ribose) polymerase (PARP) inhibitor in patients with advanced ovarian carcinomas. To...
Autores principales: | , , , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2019
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7004523/ https://www.ncbi.nlm.nih.gov/pubmed/31742824 http://dx.doi.org/10.1111/cas.14242 |
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author | Shao, Di Cheng, Shaomin Guo, Fengming Zhu, Changbin Yuan, Yuying Hu, Kunling Wang, Zhe Meng, Xuan Jin, Xin Xiong, Yun Chai, Xianghua Li, Hong Zhang, Yu Zhang, Hongyun Liu, Jihong Ye, Mingzhi |
author_facet | Shao, Di Cheng, Shaomin Guo, Fengming Zhu, Changbin Yuan, Yuying Hu, Kunling Wang, Zhe Meng, Xuan Jin, Xin Xiong, Yun Chai, Xianghua Li, Hong Zhang, Yu Zhang, Hongyun Liu, Jihong Ye, Mingzhi |
author_sort | Shao, Di |
collection | PubMed |
description | Identification of deleterious variants in hereditary breast and ovarian cancer (HBOC) susceptibility genes allows for increased clinical surveillance and early detection, and could predict the response to poly (ADP‐ribose) polymerase (PARP) inhibitor in patients with advanced ovarian carcinomas. To determine the prevalence and clinical prediction factors for HBOC syndrome, 882 selected individuals underwent multigene panel testing for HBOC risk assessment during the period from January 2015 to March 2018. Overall, 176 deleterious mutations were observed in 19.50% (n = 172) of individuals. Twenty‐six of 176 mutations could not be retrieved in related public databases and were considered to be novel. Among patients with ovarian cancer, 115 deleterious mutations were identified in 429 patients (48.6%) with significant enrichment for a family history of breast or ovarian cancer syndrome (P < .05). In the breast cancer subgroup, 31 deleterious mutations were identified in 261 patients. Besides BRCA1 (8; 25.8%) and BRCA2 (11; 35.5%), the most frequently occurring genes, an additional 12 deleterious mutations (38.7%) were found in seven other susceptibility genes. Higher mutation incidence (57.9%) was observed in subjects with histories of breast and ovarian cancer. Our results highlighted the genetic heterogeneity of HBOC and the efficiency of a multigene panel in carrying out risk assessment. |
format | Online Article Text |
id | pubmed-7004523 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2019 |
publisher | John Wiley and Sons Inc. |
record_format | MEDLINE/PubMed |
spelling | pubmed-70045232020-02-13 Prevalence of hereditary breast and ovarian cancer (HBOC) predisposition gene mutations among 882 HBOC high‐risk Chinese individuals Shao, Di Cheng, Shaomin Guo, Fengming Zhu, Changbin Yuan, Yuying Hu, Kunling Wang, Zhe Meng, Xuan Jin, Xin Xiong, Yun Chai, Xianghua Li, Hong Zhang, Yu Zhang, Hongyun Liu, Jihong Ye, Mingzhi Cancer Sci Original Articles Identification of deleterious variants in hereditary breast and ovarian cancer (HBOC) susceptibility genes allows for increased clinical surveillance and early detection, and could predict the response to poly (ADP‐ribose) polymerase (PARP) inhibitor in patients with advanced ovarian carcinomas. To determine the prevalence and clinical prediction factors for HBOC syndrome, 882 selected individuals underwent multigene panel testing for HBOC risk assessment during the period from January 2015 to March 2018. Overall, 176 deleterious mutations were observed in 19.50% (n = 172) of individuals. Twenty‐six of 176 mutations could not be retrieved in related public databases and were considered to be novel. Among patients with ovarian cancer, 115 deleterious mutations were identified in 429 patients (48.6%) with significant enrichment for a family history of breast or ovarian cancer syndrome (P < .05). In the breast cancer subgroup, 31 deleterious mutations were identified in 261 patients. Besides BRCA1 (8; 25.8%) and BRCA2 (11; 35.5%), the most frequently occurring genes, an additional 12 deleterious mutations (38.7%) were found in seven other susceptibility genes. Higher mutation incidence (57.9%) was observed in subjects with histories of breast and ovarian cancer. Our results highlighted the genetic heterogeneity of HBOC and the efficiency of a multigene panel in carrying out risk assessment. John Wiley and Sons Inc. 2019-12-31 2020-02 /pmc/articles/PMC7004523/ /pubmed/31742824 http://dx.doi.org/10.1111/cas.14242 Text en © 2019 The Authors. Cancer Science published by John Wiley & Sons Australia, Ltd on behalf of Japanese Cancer Association. This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc/4.0/ License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited and is not used for commercial purposes. |
spellingShingle | Original Articles Shao, Di Cheng, Shaomin Guo, Fengming Zhu, Changbin Yuan, Yuying Hu, Kunling Wang, Zhe Meng, Xuan Jin, Xin Xiong, Yun Chai, Xianghua Li, Hong Zhang, Yu Zhang, Hongyun Liu, Jihong Ye, Mingzhi Prevalence of hereditary breast and ovarian cancer (HBOC) predisposition gene mutations among 882 HBOC high‐risk Chinese individuals |
title | Prevalence of hereditary breast and ovarian cancer (HBOC) predisposition gene mutations among 882 HBOC high‐risk Chinese individuals |
title_full | Prevalence of hereditary breast and ovarian cancer (HBOC) predisposition gene mutations among 882 HBOC high‐risk Chinese individuals |
title_fullStr | Prevalence of hereditary breast and ovarian cancer (HBOC) predisposition gene mutations among 882 HBOC high‐risk Chinese individuals |
title_full_unstemmed | Prevalence of hereditary breast and ovarian cancer (HBOC) predisposition gene mutations among 882 HBOC high‐risk Chinese individuals |
title_short | Prevalence of hereditary breast and ovarian cancer (HBOC) predisposition gene mutations among 882 HBOC high‐risk Chinese individuals |
title_sort | prevalence of hereditary breast and ovarian cancer (hboc) predisposition gene mutations among 882 hboc high‐risk chinese individuals |
topic | Original Articles |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7004523/ https://www.ncbi.nlm.nih.gov/pubmed/31742824 http://dx.doi.org/10.1111/cas.14242 |
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