Exploration of Intermediate-sized INDELs by Next-generation Multigene Panel Testing in Han Chinese Patients with Breast Cancer

Overview

Journal Hum Genome Var

Date 2019 Nov 9

PMID 31700649

Citations 2

Authors

Chihiro Hata

Hirofumi Nakaoka

Yu Xiang

Dong Wang

Anping Yang

Dahai Liu

Fang Liu

Qingfeng Zou

Ke Zheng

Ituro Inoue

Hua You

Affiliations

Soon will be listed here.

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 (also known as ) in one patient.

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