[A novel APC gene germline mutation in a familial adenomatous polyposis pedigree].
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.
Zhou
Jian-nong
JN
Department of General Surgery, Jiangsu Cancer Hospital, Nanjing, Jiangsu 210009, P. R. China.
Chen
Sen-qing
SQ
Zhang
Xiao-mei
XM
Zhou
Xin
X
Zhu
Ming
M
Feng
Bo
B
Li
Jin-tian
JT
Ma
Guo-jian
GJ
Zhang
Yuan-ying
YY
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
D025601:Adenomatous Polyposis Coli Protein