Abstract:
Objective To explore the significance of next-generation sequencing for the screening of high-risk hereditary gastrointestinal cancer patients and the value of high-risk factors in screening.
Methods Twenty-five hereditary high-risk gastrointestinal cancer patients from March 2016 to April 2016 in Peking University Cancer Hospital were enrolled. They received detection of 42 hereditary cancer syndrome related genes by next-generation sequencing.
Results Out of 25 patients enrolled, 24% (6/25) patients had pathological germline mutations. The expression of mismatch repair protein was absent in 50% (3/6) patients. There were 83% (5/6) patients with family history of malignant tumors and were diagnosed when younger than 50 years. Six patients had hereditary cancer syndrome related gene mutation, 1 patient had MYH gene missense mutation, 1 patient had APC gene deletion mutation, 4 patients had hereditary colorectal cancer related gene mutation, including MLH1, MLH3, and TGFBR2 germline missense mutations as well as MSH6 nonsense mutation.
Conclusions Out of 25 patients with high-risk factors of hereditary gastrointestinal cancer, 6 (24%) had pathological germline mutations. Given the high frequency and wide spectrum of mutations, the application of next-generation sequencing for screening of hereditary high-risk gastrointestinal cancer patients has the clinical value for improving the positive rate of diagnosis.
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