학술논문
Exploration of intermediate-sized INDELs by next-generation multigene panel testing in Han Chinese patients with breast cancer
Document Type
Original Paper
Author
Source
Human Genome Variation. 6(1)
Subject
Language
English
ISSN
2054-345X
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.