Germline mutations in the CHEK2 kinase gene are associated with an increased risk of bladder cancer

被引：25

作者：

Zlowocka, Elzbieta ^{[1
]}

Cybulski, Cezary ^{[1
]}

Gorski, Bohdan ^{[1
]}

Debniak, Tadeusz ^{[1
]}

Slojewski, Marcin ^{[2
]}

Wokolorczyk, Dominika ^{[1
]}

Serrano-Fernandez, Pablo ^{[1
]}

Matyjasik, Joanna ^{[1
]}

van de Wetering, Thierry ^{[1
]}

Sikorski, Andrzej ^{[2
]}

Scott, Rodney J. ^{[3
]}

Lubinski, Jan ^{[1
]}

机构：

[1] Pomeranian Med Univ, Int Hereditary Canc Ctr, Dept Genet & Pathol, PL-70115 Szczecin, Poland

[2] Pomeranian Med Univ, Urol Clin, PL-70115 Szczecin, Poland

[3] Univ Newcastle, Fac Hlth, Discipline Med Genet, Sch Biomed Sci, Newcastle, NSW 2308, Australia

来源：

INTERNATIONAL JOURNAL OF CANCER | 2008年 / 122卷 / 03期

关键词：

bladder cancer; CHEK2; CHK2 germline mutations; susceptibility;

D O I：

10.1002/ijc.23099

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

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%Cl 1.3-2.7; p = 0.0003). We conclude that CHEK2 mutations increase the risk of bladder cancer in the population. (c) 2007 Wiley-Liss, Inc.

引用

页码：583 / 586

页数：4

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