CHEK2激酶基因的种系突变与膀胱癌风险增加相关。
Germline mutations in the CHEK2 kinase gene are associated with an increased risk of bladder cancer.
作者信息
Złowocka Elzbieta, Cybulski Cezary, Górski Bohdan, Debniak Tadeusz, Słojewski Marcin, Wokołorczyk Dominika, Serrano-Fernández Pablo, Matyjasik Joanna, van de Wetering Thierry, Sikorski Andrzej, Scott Rodney J, Lubiński Jan
机构信息
International Hereditary Cancer Center, Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland.
出版信息
Int J Cancer. 2008 Feb 1;122(3):583-6. doi: 10.1002/ijc.23099.
Germline mutations in CHEK2 have been associated with a range of cancer types but little is known about disease risks conveyed by CHEK2 mutations outside of the context of breast and prostate cancer. To investigate whether CHEK2 mutations confer an increased risk of bladder cancer, we genotyped 416 unselected cases of bladder cancer and 3,313 controls from Poland for 4 founder alleles in the CHEK2 gene, each of which has been associated with an increased risk of cancer at other sites. A CHEK2 mutation (all variants combined) was found in 10.6% of the cancer cases and in 5.9% of the controls (OR = 1.9; 95%CI 1.3-2.7; p = 0.0003). We conclude that CHEK2 mutations increase the risk of bladder cancer in the population.
CHEK2基因的种系突变与多种癌症类型相关，但在乳腺癌和前列腺癌之外，对于CHEK2突变所带来的疾病风险却知之甚少。为了研究CHEK2突变是否会增加患膀胱癌的风险，我们对来自波兰的416例未经选择的膀胱癌病例和3313例对照进行了CHEK2基因中4个始祖等位基因的基因分型，每一个等位基因都与其他部位患癌风险增加有关。在10.6%的癌症病例和5.9%的对照中发现了CHEK2突变（所有变体合并计算）（比值比=1.9；95%置信区间1.3 - 2.7；p = 0.0003）。我们得出结论，CHEK2突变会增加人群患膀胱癌的风险。
Zotero 插件