错义突变
种系突变
结直肠癌
体细胞
Peutz-Jeghers综合征
生殖系
医学
癌症
癌症研究
基因
突变
内科学
遗传学
生物
作者
Virpi Launonen,Egle Avizienyte,Anu Loukola,Päivi Laiho,Reijo Salovaara,Heikki Järvinen,Jukka‐Pekka Mecklin,Asuka Oku,Miyuki Shimane,Hee C. Kim,Jin Cheon Kim,Jun‐ichi Nezu,Lauri A. Aaltonen
出处
期刊:PubMed
日期:2000-02-01
卷期号:60 (3): 546-8
被引量:33
摘要
LKB1 serine/threonine kinase is a gene for Peutz-Jeghers cancer predisposition syndrome. Most studies have detected a low frequency of LKB1 defects in sporadic cancer. A notable exception is a recent report describing frequent, mostly missense type, LKB1 mutations in Korean distal colorectal tumors. To clarify the role of LKB1 in colon cancer, we scrutinized 50 left-sided Korean and Finnish specimens. No somatic mutations were found. The seven Korean somatic missense mutations reported previously were functionally analyzed, and five were found not to alter LKB1 kinase activity. One of these changes was found to be a germ-line polymorphism. LKB1 involvement in distal colorectal cancer is not common.
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