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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, 5, 7
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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