Exploration of intermediate-sized INDELs by next-generation multigene panel testing in Han Chinese patients with breast cancer

Multigene panel testing via next-generation sequencing focuses on the detection of small-sized mutations, such as single nucleotide variants and short insertions and deletions (INDELs). However, intermediate-sized INDELs have not been fully explored due to technical difficulties. Here, we performed...

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Autores principales: Hata, Chihiro, Nakaoka, Hirofumi, Xiang, Yu, Wang, Dong, Yang, Anping, Liu, Dahai, Liu, Fang, Zou, Qingfeng, Zheng, Ke, Inoue, Ituro, You, Hua
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2019
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6820797/
https://www.ncbi.nlm.nih.gov/pubmed/31700649
http://dx.doi.org/10.1038/s41439-019-0080-8
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author Hata, Chihiro
Nakaoka, Hirofumi
Xiang, Yu
Wang, Dong
Yang, Anping
Liu, Dahai
Liu, Fang
Zou, Qingfeng
Zheng, Ke
Inoue, Ituro
You, Hua
author_facet Hata, Chihiro
Nakaoka, Hirofumi
Xiang, Yu
Wang, Dong
Yang, Anping
Liu, Dahai
Liu, Fang
Zou, Qingfeng
Zheng, Ke
Inoue, Ituro
You, Hua
author_sort Hata, Chihiro
collection PubMed
description Multigene panel testing via next-generation sequencing focuses on the detection of small-sized mutations, such as single nucleotide variants and short insertions and deletions (INDELs). However, intermediate-sized INDELs have not been fully explored due to technical difficulties. Here, we performed bioinformatics analyses to identify intermediate-sized INDELs in 54 cancer-related genes from 583 Han Chinese patients with breast cancer. We detected a novel deletion–insertion in a translational variant of PTEN (also known as PTENα) in one patient.
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spelling pubmed-68207972019-11-07 Exploration of intermediate-sized INDELs by next-generation multigene panel testing in Han Chinese patients with breast cancer Hata, Chihiro Nakaoka, Hirofumi Xiang, Yu Wang, Dong Yang, Anping Liu, Dahai Liu, Fang Zou, Qingfeng Zheng, Ke Inoue, Ituro You, Hua Hum Genome Var Data Report Multigene panel testing via next-generation sequencing focuses on the detection of small-sized mutations, such as single nucleotide variants and short insertions and deletions (INDELs). However, intermediate-sized INDELs have not been fully explored due to technical difficulties. Here, we performed bioinformatics analyses to identify intermediate-sized INDELs in 54 cancer-related genes from 583 Han Chinese patients with breast cancer. We detected a novel deletion–insertion in a translational variant of PTEN (also known as PTENα) in one patient. Nature Publishing Group UK 2019-10-29 /pmc/articles/PMC6820797/ /pubmed/31700649 http://dx.doi.org/10.1038/s41439-019-0080-8 Text en © The Author(s) 2019 Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.
spellingShingle Data Report
Hata, Chihiro
Nakaoka, Hirofumi
Xiang, Yu
Wang, Dong
Yang, Anping
Liu, Dahai
Liu, Fang
Zou, Qingfeng
Zheng, Ke
Inoue, Ituro
You, Hua
Exploration of intermediate-sized INDELs by next-generation multigene panel testing in Han Chinese patients with breast cancer
title Exploration of intermediate-sized INDELs by next-generation multigene panel testing in Han Chinese patients with breast cancer
title_full Exploration of intermediate-sized INDELs by next-generation multigene panel testing in Han Chinese patients with breast cancer
title_fullStr Exploration of intermediate-sized INDELs by next-generation multigene panel testing in Han Chinese patients with breast cancer
title_full_unstemmed Exploration of intermediate-sized INDELs by next-generation multigene panel testing in Han Chinese patients with breast cancer
title_short Exploration of intermediate-sized INDELs by next-generation multigene panel testing in Han Chinese patients with breast cancer
title_sort exploration of intermediate-sized indels by next-generation multigene panel testing in han chinese patients with breast cancer
topic Data Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6820797/
https://www.ncbi.nlm.nih.gov/pubmed/31700649
http://dx.doi.org/10.1038/s41439-019-0080-8
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