Appolication of next-generation sequencing for the screening of hereditary gastrointestinal cancer
10.3969/j.issn.1000-8179.2018.19.699
- VernacularTitle:二代测序在家族遗传性高危胃肠肿瘤筛查中的应用
- Author:
Jing ZHANG
1
;
Xicheng WANG
;
Yanshuo CAO
;
Jian LI
;
Xiaotian ZHANG
;
Jifang GONG
;
Ming LU
;
Jing GAO
;
Yanyan LI
;
Lin SHEN
Author Information
1. 北京大学肿瘤医院暨北京市肿瘤防治研究所
- Keywords:
hereditary gastrointestinal cancer;
next-generation sequencing;
germline mutation
- From:
Chinese Journal of Clinical Oncology
2018;45(19):1000-1004
- CountryChina
- Language:Chinese
-
Abstract:
Objective: To explore the significance of next-generation sequencing for the screening of high-risk hereditary gastrointesti-nal cancer patients and the value of high-risk factors in screening. Methods: Twenty-five hereditary high-risk gastrointestinal cancer pa-tients from March 2016 to April 2016 in Peking University Cancer Hospital were enrolled. They received detection of 42 hereditary can-cer 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 re-lated gene mutation, 1 patient had MYH gene missense mutation, 1 patient had APC gene deletion mutation, 4 patients had heredi-tary colorectal cancer related gene mutation, including MLH1, MLH3, and TGFBR2 germline missense mutations as well as MSH6 non-sense 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.
