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Exploration of intermediate-sized INDELs by next-generation multigene panel testing in Han Chinese patients with
Chihiro Hata1, Hirofumi Nakaoka1, Yu Xiang2
11Human Genetics Laboratory, National Institute of Genetics, Mishima, Japan.
Abstract:
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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