DOI: 10.1101/513317Jan 7, 2019Paper

Gene Panel Sequencing in a Chinese High-risk Breast Cancer Cohort

BioRxiv : the Preprint Server for Biology
Xianyu ZhangDa Pang

Abstract

Background: Currently, over 20 genes have been defined that can confer susceptibility for high-risk breast cancer. Although research has proved the utility of multiple-gene sequencing in the assessment of breast cancer risk, there is little data from China patients. Here, we use a multiple-gene sequencing panel to identify the variant spectrum in Chinese high-risk breast cancer subjects. Findings: A total of 829 Chinese high-risk breast cancer patients participated in the research. The coding regions of 115 hereditary cancer susceptibility genes were captured and sequenced using a next generation sequencing platform from Complete Genomics and Illumina. Single Nucleotide Polymorphism and small Insertion/deletion variants were defined and analyzed. We developed a semi-automatic interpretation pipeline which enables accurate variants classification. In total, 193 pathogenic variants were identified in 45 genes from 177 patients. The pathogenic variant carrier rate is 21.4%: with 10.5% patients carrying a BRCA1 or BRCA2 mutation only, 10.0% of patients carried non-BRCA gene mutations only, while 1.0% of patients carried both a BRCA1/2 and a non-BRCA gene mutation. Variants of uncertain significance (VUS) totaling 2632 were identifi...Continue Reading

Related Concepts

Adenoma
Malignant Neoplasm of Breast
Classification
Disease Susceptibility
Gene Deletion
Genes
Research
Chinese People
Prophylactic Treatment
Evaluation

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