Exploration of intermediate-sized INDELs by next-generation multigene panel testing in Han Chinese patients with breast cancer.,Human Genome Variation

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Exploration of intermediate-sized INDELs by next-generation multigene panel testing in Han Chinese patients with breast cancer.
Human Genome Variation ( IF 1.0 ) Pub Date : 2019-10-29 , DOI: 10.1038/s41439-019-0080-8
Chihiro Hata ₁ , Hirofumi Nakaoka ₁ , Yu Xiang ₂ , Dong Wang ₃ , Anping Yang ₄ , Dahai Liu ₄ , Fang Liu ₄ , Qingfeng Zou ₅ , Ke Zheng ₆ , Ituro Inoue ₁ , Hua You _{3,

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Affiliation

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.

更新日期：2019-10-29

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