the progress and prospect of application of genetic testing technology based gene detection technology in the diagnosis and treatment of hereditary cancer

• DOI: 10.3760/cma.j.issn.0253-9624.2017.08.022
• Publication Date: 2017-08-06
• Authors: J X He; Y F Jiang
• Keywords: Neoplastic Syndromes, Hereditary; Humans; Female; Genetic Testing

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.