title: [A novel APC gene germline mutation in a familial adenomatous polyposis pedigree].
abstract: OBJECTIVE
  To detect the adenomatous polyposis coli (APC) gene germline mutation in the proband and her family members with familial adenomatous polyposis (FAP).
  
  
  METHODS
  The diagnosis of a patient with FAP was validated by colonoscopy, pathology and the family history. The systematic screening with multiplex ligation-dependent probe amplification (MLPA), denaturing high-performance liquid chromatography (DHPLC) and DNA sequencing were carried out to detect APC gene germline mutations.
  
  
  RESULTS
  A novel mutation c.1999 C >T (Q667X) of APC, which leads to premature termination of the protein, was identified in this family. This mutation manifested an aggressive form of FAP with early onset of colorectal adenocarcinoma and colonic adenoma.
  
  
  CONCLUSIONS
  The mutation of APC Q667X is the cause of clinical phenotype of this family with FAP, and the prophylactic colectomy for the affected family members should be considered.
authors.affiliation: Department of General Surgery, Jiangsu Cancer Hospital, Nanjing, Jiangsu 210009, P. R. China.
authors.forename: Jian-nong
authors.initials: JN
authors.lastname: Zhou
authors.forename: Sen-qing
authors.initials: SQ
authors.lastname: Chen
authors.forename: Xiao-mei
authors.initials: XM
authors.lastname: Zhang
authors.forename: Xin
authors.initials: X
authors.lastname: Zhou
authors.forename: Ming
authors.initials: M
authors.lastname: Zhu
authors.forename: Bo
authors.initials: B
authors.lastname: Feng
authors.forename: Jin-tian
authors.initials: JT
authors.lastname: Li
authors.forename: Guo-jian
authors.initials: GJ
authors.lastname: Ma
authors.forename: Yuan-ying
authors.initials: YY
authors.lastname: Zhang
mesh_terms: D011125:Adenomatous Polyposis Coli / Q000235:genetics*; D025601:Adenomatous Polyposis Coli Protein / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D001483:Base Sequence; D002648:Child; D002851:Chromatography, High Pressure Liquid; D004252:DNA Mutational Analysis; D005260:Female; D018095:Germ-Line Mutation; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D010641:Phenotype; D016133:Polymerase Chain Reaction
chemical_list: D025601:Adenomatous Polyposis Coli Protein