title: Germline mutations in patients with multiple colorectal polyps in China.
abstract: OBJECTIVE
  Multiple colorectal polyps are relevant in hereditary colorectal cancer (CRC) syndromes, which are thought to be caused by multiple events including germline mutations. This study was aimed to characterize germline mutations in Chinese patients with multiple colorectal polyps.
  
  
  METHODS
  Patients with > 10 colorectal polyps at the Department of Gastroenterology of the PLA Army General Hospital were enrolled from January 2014 to December 2015. These patients were divided into the high-risk, moderate-risk, and mild-risk groups. White blood cell samples were collected, and DNA was extracted to sequence a panel of 19 genes previously associated with CRC by next-generation sequencing.
  
  
  RESULTS
  A total of 96 patients were enrolled in the study. Pathogenic germline mutations were found in 24 (24/33, 72.73%), nine (9/24, 37.5%), and three patients (3/39, 7.7%) in the high-risk, moderate-risk, and mild-risk groups, respectively. Based on the results given, we suggested a strategy about gene sequencing test for the patients with multiple polyps, and the sensitivity and specificity of the screening strategy were 97% and 57%, respectively. Four of eight patients with MUTYH pathogenic germline mutations had the c.A934-2G monoallelic germline mutation, whereas three of eight patients had the C55T MUTYH germline mutation. Concurrent pathogenic germline mutations in APC and MUTYH were also observed.
  
  
  CONCLUSIONS
  A genetic screening strategy comprising 19 genes was effective to screen for hereditary CRC syndromes in patients with multiple colorectal polyps. The MUTYH germline mutation hotspots in Chinese patients may be different from those in Caucasian patients.
authors.affiliation: The Third Military Medical University, Chongqing, China.|Department of Gastroenterology, PLA Army General Hospital, Beijing, China.
authors.forename: Chen-Guang
authors.initials: CG
authors.lastname: Li
authors.affiliation: Department of Gastroenterology, PLA Army General Hospital, Beijing, China.
authors.forename: Peng
authors.initials: P
authors.lastname: Jin
authors.affiliation: Department of Gastroenterology, PLA Army General Hospital, Beijing, China.
authors.forename: Lang
authors.initials: L
authors.lastname: Yang
authors.affiliation: Novogene Bioinformatics Technology Co., Ltd, Beijing, China.
authors.forename: Wan-Chun
authors.initials: WC
authors.lastname: Zang
authors.affiliation: Department of Gastroenterology, PLA Army General Hospital, Beijing, China.
authors.forename: Qian
authors.initials: Q
authors.lastname: Kang
authors.affiliation: Department of Gastroenterology, PLA Army General Hospital, Beijing, China.
authors.forename: Na
authors.initials: N
authors.lastname: Li
authors.affiliation: Department of Gastroenterology, PLA Army General Hospital, Beijing, China.
authors.forename: Yuqi
authors.initials: Y
authors.lastname: He
authors.affiliation: Department of Gastroenterology, PLA Army General Hospital, Beijing, China.
authors.forename: Junfeng
authors.initials: J
authors.lastname: Xu
authors.affiliation: Department of Gastroenterology, PLA Army General Hospital, Beijing, China.
authors.forename: Chen
authors.initials: C
authors.lastname: Zhang
authors.affiliation: Department of Gastroenterology, PLA Army General Hospital, Beijing, China.
authors.forename: Xin
authors.initials: X
authors.lastname: Wang
authors.affiliation: Department of Gastroenterology, PLA Army General Hospital, Beijing, China.
authors.forename: Jian-Qiu
authors.initials: JQ
authors.lastname: Sheng
mesh_terms: D025601:Adenomatous Polyposis Coli Protein / Q000235:genetics; D000328:Adult; D000368:Aged; D044466:Asian People / Q000235:genetics; D002681:China; D003111:Colonic Polyps / Q000235:genetics; D045647:DNA Glycosylases / Q000235:genetics; D005260:Female; D005820:Genetic Testing; D018095:Germ-Line Mutation; D006801:Humans; D007417:Intestinal Polyps / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D012002:Rectal Diseases / Q000235:genetics*; D055815:Young Adult
chemical_list: C555337:APC protein, human; D025601:Adenomatous Polyposis Coli Protein; D045647:DNA Glycosylases; C061738:mutY adenine glycosylase
keywords: NGS; germline mutation; multiple colorectal polyps