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

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.

SUBMITTER: Hata C 

PROVIDER: S-EPMC6820797 | biostudies-literature | 2019

REPOSITORIES: biostudies-literature