The progress and prospect of application of genetic testing technology-based gene detection technology in the diagnosis and treatment of hereditary cancer
10.3760/cma.j.issn.0253-9624.2017.08.022
- VernacularTitle: 高通量测序技术在临床诊治遗传性肿瘤中的应用与研究进展
- Author:
Jiaxue HE
1
;
Yanfang JIANG
Author Information
1. Genetic Diagnosis Center, The First Hospital of Jilin University, Changchun 130021, China
- Publication Type:Review
- Keywords:
Neoplasms;
High-throughput nucleotide sequencing;
Precision medicine
- From:
Chinese Journal of Preventive Medicine
2017;51(8):772-776
- CountryChina
- Language:Chinese
-
Abstract:
Hereditary cancer is caused by specific pathogenic gene mutations. Early detection and early intervention are the most effective ways to prevent and control hereditary cancer. High-throughput sequencing based genetic testing technology (NGS) breaks through the restrictions of pedigree analysis, provide a convenient and efficient method to detect and diagnose hereditary cancer. Here, we introduce the mechanism of hereditary cancer, summarize, discuss and prospect the application of NGS and other genetic tests in the diagnosis of hereditary retinoblastoma, hereditary breast and ovarian cancer syndrome, hereditary colorectal cancer and other complex and rare hereditary tumors.
