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

Chihiro Hata, Hirofumi Nakaoka, Yu Xiang, Dong Wang, Anping Yang, Dahai Liu, Fang Liu, Qingfeng Zou, Ke Zheng, Ituro Inoue, Hua You
2019 Human Genome Variation  
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.
doi:10.1038/s41439-019-0080-8 pmid:31700649 pmcid:PMC6820797 fatcat:iftyw6562raxln2cmxpadryeby