Cargando…

Prevalence and spectrum of AKT1, PIK3CA, PTEN and TP53 somatic mutations in Chinese breast cancer patients

Breast cancer, one of the most frequently occurring cancers worldwide, is the leading cause of cancer-related death among women. AKT1, PIK3CA, PTEN and TP53 mutations were common observed in breast cancer representing potential clinical biomarkers for cancer classification and treatment. A comprehen...

Descripción completa

Detalles Bibliográficos
Autores principales: Li, Guoli, Guo, Xinwu, Chen, Ming, Tang, Lili, Jiang, Hui, Day, Julia X., Xie, Yueliang, Peng, Limin, Xu, Xunxun, Li, Jinliang, Wang, Shouman, Xiao, Zhi, Dai, Lizhong, Wang, Jun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6136723/
https://www.ncbi.nlm.nih.gov/pubmed/30212483
http://dx.doi.org/10.1371/journal.pone.0203495
_version_ 1783355055235137536
author Li, Guoli
Guo, Xinwu
Chen, Ming
Tang, Lili
Jiang, Hui
Day, Julia X.
Xie, Yueliang
Peng, Limin
Xu, Xunxun
Li, Jinliang
Wang, Shouman
Xiao, Zhi
Dai, Lizhong
Wang, Jun
author_facet Li, Guoli
Guo, Xinwu
Chen, Ming
Tang, Lili
Jiang, Hui
Day, Julia X.
Xie, Yueliang
Peng, Limin
Xu, Xunxun
Li, Jinliang
Wang, Shouman
Xiao, Zhi
Dai, Lizhong
Wang, Jun
author_sort Li, Guoli
collection PubMed
description Breast cancer, one of the most frequently occurring cancers worldwide, is the leading cause of cancer-related death among women. AKT1, PIK3CA, PTEN and TP53 mutations were common observed in breast cancer representing potential clinical biomarkers for cancer classification and treatment. A comprehensive knowledge of AKT1, PIK3CA, PTEN and TP53 mutations in breast cancer was still insufficient in Chinese population. In this study, the complete coding regions and exon-intron boundaries of AKT1, PIK3CA, PTEN and TP53 genes were sequenced in paired breast tumor and normal tissues from 313 Chinese breast cancer patients using microfluidic PCR-based target enrichment and next-generation sequencing technology. Total 120 somatic mutations were identified in 190 of the 313 patients (60.7%), with the mutation frequency of AKT1 as 3.2%, PIK3CA as 36.4%, PTEN as 4.8%, and TP53 as 33.9%. Among these mutations, 1 in PIK3CA (p.I69N), 3 in PTEN (p.K62X, c.635-12_636delTTAACCATGCAGAT and p.N340IfsTer4) and 5 in TP53 (p.Q136AfsTer5, p.K139_P142del, p.Y234dup, p.V274LfsTer31 and p.N310TfsTer35) were novel. Notably, PIK3CA somatic mutations were significantly associated with ER-positive or PR-positive tumors. TP53 somatic mutations were significantly associated with ER-negative, PR-negative, HER2-positive, BRCA1 mutation, Ki67 high expression and basal-like tumors. Our findings provided a comprehensive mutation profiling of AKT1, PIK3CA, PTEN and TP53 genes in Chinese breast cancer patients, which have potential implications in clinical management.
format Online
Article
Text
id pubmed-6136723
institution National Center for Biotechnology Information
language English
publishDate 2018
publisher Public Library of Science
record_format MEDLINE/PubMed
spelling pubmed-61367232018-09-27 Prevalence and spectrum of AKT1, PIK3CA, PTEN and TP53 somatic mutations in Chinese breast cancer patients Li, Guoli Guo, Xinwu Chen, Ming Tang, Lili Jiang, Hui Day, Julia X. Xie, Yueliang Peng, Limin Xu, Xunxun Li, Jinliang Wang, Shouman Xiao, Zhi Dai, Lizhong Wang, Jun PLoS One Research Article Breast cancer, one of the most frequently occurring cancers worldwide, is the leading cause of cancer-related death among women. AKT1, PIK3CA, PTEN and TP53 mutations were common observed in breast cancer representing potential clinical biomarkers for cancer classification and treatment. A comprehensive knowledge of AKT1, PIK3CA, PTEN and TP53 mutations in breast cancer was still insufficient in Chinese population. In this study, the complete coding regions and exon-intron boundaries of AKT1, PIK3CA, PTEN and TP53 genes were sequenced in paired breast tumor and normal tissues from 313 Chinese breast cancer patients using microfluidic PCR-based target enrichment and next-generation sequencing technology. Total 120 somatic mutations were identified in 190 of the 313 patients (60.7%), with the mutation frequency of AKT1 as 3.2%, PIK3CA as 36.4%, PTEN as 4.8%, and TP53 as 33.9%. Among these mutations, 1 in PIK3CA (p.I69N), 3 in PTEN (p.K62X, c.635-12_636delTTAACCATGCAGAT and p.N340IfsTer4) and 5 in TP53 (p.Q136AfsTer5, p.K139_P142del, p.Y234dup, p.V274LfsTer31 and p.N310TfsTer35) were novel. Notably, PIK3CA somatic mutations were significantly associated with ER-positive or PR-positive tumors. TP53 somatic mutations were significantly associated with ER-negative, PR-negative, HER2-positive, BRCA1 mutation, Ki67 high expression and basal-like tumors. Our findings provided a comprehensive mutation profiling of AKT1, PIK3CA, PTEN and TP53 genes in Chinese breast cancer patients, which have potential implications in clinical management. Public Library of Science 2018-09-13 /pmc/articles/PMC6136723/ /pubmed/30212483 http://dx.doi.org/10.1371/journal.pone.0203495 Text en © 2018 Li et al http://creativecommons.org/licenses/by/4.0/ This is an open access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/) , which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
spellingShingle Research Article
Li, Guoli
Guo, Xinwu
Chen, Ming
Tang, Lili
Jiang, Hui
Day, Julia X.
Xie, Yueliang
Peng, Limin
Xu, Xunxun
Li, Jinliang
Wang, Shouman
Xiao, Zhi
Dai, Lizhong
Wang, Jun
Prevalence and spectrum of AKT1, PIK3CA, PTEN and TP53 somatic mutations in Chinese breast cancer patients
title Prevalence and spectrum of AKT1, PIK3CA, PTEN and TP53 somatic mutations in Chinese breast cancer patients
title_full Prevalence and spectrum of AKT1, PIK3CA, PTEN and TP53 somatic mutations in Chinese breast cancer patients
title_fullStr Prevalence and spectrum of AKT1, PIK3CA, PTEN and TP53 somatic mutations in Chinese breast cancer patients
title_full_unstemmed Prevalence and spectrum of AKT1, PIK3CA, PTEN and TP53 somatic mutations in Chinese breast cancer patients
title_short Prevalence and spectrum of AKT1, PIK3CA, PTEN and TP53 somatic mutations in Chinese breast cancer patients
title_sort prevalence and spectrum of akt1, pik3ca, pten and tp53 somatic mutations in chinese breast cancer patients
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6136723/
https://www.ncbi.nlm.nih.gov/pubmed/30212483
http://dx.doi.org/10.1371/journal.pone.0203495
work_keys_str_mv AT liguoli prevalenceandspectrumofakt1pik3captenandtp53somaticmutationsinchinesebreastcancerpatients
AT guoxinwu prevalenceandspectrumofakt1pik3captenandtp53somaticmutationsinchinesebreastcancerpatients
AT chenming prevalenceandspectrumofakt1pik3captenandtp53somaticmutationsinchinesebreastcancerpatients
AT tanglili prevalenceandspectrumofakt1pik3captenandtp53somaticmutationsinchinesebreastcancerpatients
AT jianghui prevalenceandspectrumofakt1pik3captenandtp53somaticmutationsinchinesebreastcancerpatients
AT dayjuliax prevalenceandspectrumofakt1pik3captenandtp53somaticmutationsinchinesebreastcancerpatients
AT xieyueliang prevalenceandspectrumofakt1pik3captenandtp53somaticmutationsinchinesebreastcancerpatients
AT penglimin prevalenceandspectrumofakt1pik3captenandtp53somaticmutationsinchinesebreastcancerpatients
AT xuxunxun prevalenceandspectrumofakt1pik3captenandtp53somaticmutationsinchinesebreastcancerpatients
AT lijinliang prevalenceandspectrumofakt1pik3captenandtp53somaticmutationsinchinesebreastcancerpatients
AT wangshouman prevalenceandspectrumofakt1pik3captenandtp53somaticmutationsinchinesebreastcancerpatients
AT xiaozhi prevalenceandspectrumofakt1pik3captenandtp53somaticmutationsinchinesebreastcancerpatients
AT dailizhong prevalenceandspectrumofakt1pik3captenandtp53somaticmutationsinchinesebreastcancerpatients
AT wangjun prevalenceandspectrumofakt1pik3captenandtp53somaticmutationsinchinesebreastcancerpatients