May the APC gene somatic mutations in tumor tissues influence the clinical features of Chinese sporadic colorectal cancers?
The APC gene plays an important role in colorectal carcinogenesis. The impact of APC mutations on the clinical features in sporadic CRC remains to be uncovered. The APC gene was screened for mutations with systematic analysis techniques including DHPLC, PTT, MLPA and DNA sequencing in 43 Chinese sporadic CRC patients. Twenty nine somatic mutations (in 17 different types) in APC gene were found in 18 of 43 sporadic CRC patients. Of those, nine were novel mutations. Higher frequency of somatic APC mutations was found in younger CRC patients than that in elder ones. The biallelic somatic mutations of APC gene were identified in four CRC patients whose tumors had more invasive clinical features. The nonsense mutation Arg1114X in APC gene was found in five of 43 CRC tumor tissues. A higher cancer metastasis rate was uncovered in CRC patients with this mutation. The somatic mutations of APC gene may influence the clinical features of sporadic CRC. Arg1114X in APC gene, as a hot spot mutation in Chinese CRC, may predispose to the cancer metastasis of sporadic CRC.
Liu
Xiaorong
X
Department of Genetics, Medical School, South East University, Nanjing, PR China.
Shan
Xiangnian
X
Friedl
Waltraut
W
Uhlhaas
Siegfried
S
Propping
Peter
P
Li
Jintian
J
Wang
Yaping
Y
D000328:Adult; D000368:Aged; D002681:China / Q000453:epidemiology; D015179:Colorectal Neoplasms / Q000453:epidemiology / Q000235:genetics* / Q000503:physiopathology; D016021:Epidemiologic Studies; D005260:Female; D017491:Genes, APC; D006801:Humans; D008297:Male; D008403:Mass Screening; D008875:Middle Aged; D025202:Molecular Diagnostic Techniques; D009154:Mutation; D012307:Risk Factors