Current status of hereditary gastrointestinal neoplasms / 中华胃肠外科杂志

ABSTRACT

Gastric cancer and colorectal cancer are two common malignant tumors in digestive tract. 1% to 3% of gastric cancer and 5% to 15% of colorectal cancer are definitely hereditary cancer caused by germline gene mutation. Hereditary gastric cancer includes hereditary diffuse gastric cancer(HDGC) and hereditary intestinal gastric cancer (HIGC). CDH1 gene mutation is the main reason to cause HDGC, so the first degree and the second degree family members of HDGC patients are recommended to receive CDH1 mutation detection, endoscopic examination every year and undergo preventive total gastrectomy. Hereditary colorectal cancer includes hereditary nonpolyposis colorectal cancer (HNPCC, or Lynch syndrome) and familial adenomatous polyposis (FAP). Germline MMR gene mutation detection is the golden standard of the diagnosis of Lynch syndrome. Family members of Lynch syndrome patients are recommended to receive endoscopic examination every year and undergo standard cancer radical operation or total colorectal resection based on individual conditions. FAP is caused by APC gene mutation, so FAP patients are recommended to receive endoscopic examination once or twice every year through their lifetime, while a lot of adenoma occur, resection should be considered. The promotion key of hereditary gastrointestinal neoplasms research is to follow the standard diagnosis and treatment guideline for hereditary gastrointestinal neoplasms and build the clinical and gene information bank of hereditary gastrointestinal neoplasms. The second generation sequencing technique provides favorable research stools in elucidating pathogenesis mechanism of hereditary gastrointestinal neoplasms.