International Hereditary Cancer Center, Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland.
Prostate. 2013 Apr;73(5):542-8. doi: 10.1002/pros.22594. Epub 2013 Jan 17.
The G84E mutation in the HOXB13 gene has been associated with a high lifetime risk of prostate cancer in North America (about 20-fold). The geographical and ethnic extent of this recurrent allele has not yet been determined.
We assayed for the presence of the G84E mutation in 3,515 prostate cancer patients and 2,604 controls from Poland and estimated the odds ratio for prostate cancer associated with the allele.
The G84E mutation was detected in 3 of 2,604 (0.1%) individuals from the general population in Poland and in 20 of 3,515 (0.6%) men with prostate cancer (Odds ratio [OR] = 5.0; 95% CI: 1.5-16.7; P = 0.008). The allele was present in 4 of 416 (1.0%) men with familial prostate cancer (OR = 8.4, 95% CI: 1.9-37.7; P = 0.005).
The G84E mutation predisposes to prostate cancer in Poland, but accounts for only a small proportion of cases. We expect that the G84E founder mutation might be present in other Slavic populations.
HOXB13 基因中的 G84E 突变与北美人群（约 20 倍）一生中前列腺癌的高风险相关。这种反复出现的等位基因的地理和种族范围尚未确定。
我们在来自波兰的 3515 名前列腺癌患者和 2604 名对照中检测了 G84E 突变的存在，并估计了该等位基因与前列腺癌相关的比值比。
在波兰的普通人群中，2604 人中有 3 人（0.1%）和 3515 名前列腺癌患者中有 20 人（0.6%）检测到 G84E 突变（比值比 [OR] = 5.0；95%CI：1.5-16.7；P = 0.008）。该等位基因在 416 名家族性前列腺癌患者中有 4 人（1.0%）（OR = 8.4，95%CI：1.9-37.7；P = 0.005）。
G84E 突变使波兰人易患前列腺癌，但仅占病例的一小部分。我们预计 G84E 创始突变可能存在于其他斯拉夫人群中。
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