Universal Genetic Screening For Chinese Colorectal Cancer Patients With Higher Hereditary Susceptibility

e13620Background: The incidence and death rates of colorectal cancer (CRC) in China have increased dramatically in recent decades. It is estimated that there were almost 376,000 new diagnoses of CRC in 2015 in China. Family cancer history was the mainly high-risk for hereditary CRC. Genetic screening is critical for CRC effective prevention, early detection, and therapy. Methods: 162 patients with family CRC or gastric cancer history, which were newly diagnosed CRC (exclude familial adenomatous polyposis) at Sun Yat-sen University Cancer Center in China, enrolled in this study. DNA was extracted from patientsu0027 peripheral blood samples, then construct library and sequence by HiSeq platform. GATK was used for SNP/InDel detection. In-house developed software was used for exonic deletion/duplication detection. All the pathogenic SNP/InDel and CNV were confirmed by Sanger sequencing or qPCR. Results: Among 162 CRC patients with family history, 38(23.4%) patients have detected one or two pathogenic/likely patho...