Three novel mutations of the APC gene in Korean patients with familial adenomatous polyposis.
Germline mutations within the adenomatous polyposis coli (APC) gene are associated with familial adenomatous polyposis (FAP), an autosomal dominant disease predisposing individuals to colorectal cancer. Identification of APC mutations has important implications for genetic counseling and management of FAP patients. We examined the APC mutation status of 10 Korean FAP patients by polymerase chain reaction-direct sequencing method and found six APC mutations, including three novel mutations. Testing for MUTYH mutation was done for FAP patients in whom no mutation in the APC gene was identified. Three novel mutations (c.1654_1663delTCTTGGCGAG, c.3709C>T, and c.6092_6094delinsTT) and three previously reported mutations (c.3631_3632delAT, c.4438C>T, and c.4612_4613delGA) were detected. The MUTYH mutation was not detected in any of the four FAP patients without an APC mutation. This finding of three novel mutations in a group of Korean FAP patients broadens the spectrum of APC mutations.
Jang
Yun Ha
YH
Department of Laboratory Medicine, University of Ulsan College of Medicine and Asan Medical Center, Songpa-gu, Seoul, Korea.
Lim
Seok-Byung
SB
Kim
Mi-Jung
MJ
Chung
Hee-Jung
HJ
Yoo
Han-Wook
HW
Byeon
Jeong-Sik
JS
Myung
Seung-Jae
SJ
Lee
Woochang
W
Chun
Sail
S
Min
Won-Ki
WK
D011125:Adenomatous Polyposis Coli / Q000235:genetics*; D000328:Adult; D044466:Asian People / Q000235:genetics; D005260:Female; D017491:Genes, APC; D006801:Humans; D008297:Male; D009154:Mutation