CHEK2 variants associate with hereditary prostate cancer.
CHEK2 variants associate with hereditary prostate cancer.
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DOI：
10.1038/sj.bjc.6601425
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发表时间：
2003-11-17
影响因子：
8.8
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中科院分区：
文献类型：
--
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最近，在美国CHEK 2基因的变异被证明与散发性前列腺癌相关。在芬兰的这项研究中，我们发现，与480名对照人群相比，120名遗传性前列腺癌（HPC）患者中1100 delC（一种消除激酶活性的截短变体）的频率显著升高（120例中有4例（3.3%）;比值比8.24; 95%置信区间1.49-45.54; P=0.02）。1100 delC突变和前列腺癌之间的隔离的证据表明，在所有阳性的家庭。此外，I157 T变异在HPC患者中的频率（13/120（10.8%）;比值比2.12; 95%置信区间1.06-4.27; P=0.04）显著高于在人群对照中观察到的频率5.4%。结果表明，CHEK 2变体是低突变率的前列腺癌易感等位基因，其在群体水平上对前列腺癌的家族聚集有显著贡献。
Recently, variants in CHEK2 gene were shown to associate with sporadic prostate cancer in the USA. In the present study from Finland, we found that the frequency of 1100delC, a truncating variant that abrogates the kinase activity, was significantly elevated among 120 patients with hereditary prostate cancer (HPC) (four out of 120 (3.3%); odds ratio 8.24; 95% confidence interval 1.49–45.54; P=0.02) compared to 480 population controls. Suggestive evidence of segregation between the 1100delC mutation and prostate cancer was seen in all positive families. In addition, I157T variant had significantly higher frequency among HPC patients (13 out of 120 (10.8%); odds ratio 2.12; 95% confidence interval 1.06–4.27; P=0.04) than the frequency 5.4% seen in the population controls. The results suggest that CHEK2 variants are low-penetrance prostate cancer predisposition alleles that contribute significantly to familial clustering of prostate cancer at the population level.
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