Prostate cancer progression and survival in BRCA2 mutation carriers
Prostate cancer progression and survival in BRCA2 mutation carriers
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DOI：
10.1093/jnci/djm005
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发表时间：
2007-06-20
影响因子：
10.3
通讯作者：
Tulinius, Hrafn
中科院分区：
文献类型：
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作者：
Tryggvadottir, Laufey;Vidarsdottir, Linda;Tulinius, Hrafn
BRCA 2基因突变与前列腺癌风险增加相关，但尚不清楚它们是否与疾病进展相关。我们比较了前列腺癌患者携带冰岛BRCA 2 999 del 5创始人突变和noncarriers.Methods使用人口为基础的登记，我们确定了所有596例前列腺癌患者在1955年至2004年期间诊断在冰岛29603男性亲属的乳腺癌先证者之间的前列腺癌特异性生存，疾病分期和肿瘤分级。527例患者（88.4%）可确定BRCA 2突变状态。阶段和等级是从原始记录中提取的，关于突变状态，对于89名患者的亚组，包括所有突变携带者，对于每个携带者，两名对照患者没有BRCA 2 999 del 5突变，他们在诊断和出生年份与携带者相匹配。使用多变量回归模型估计前列腺癌特异性生存率的风险比（HR）和95%置信区间（Cls）。结果30例（5.7%）患者存在突变。与非携带者相比，BRCA 2 999 del 5突变携带者诊断时的平均年龄较低（69.0岁对74.0岁; P= 0.002），肿瘤分期较晚期（3期或4期，79.3%对38.6%; P
Background Mutations in the BRCA2 gene are associated with an increased risk of prostate cancer, but it is not known whether they are associated with progression of the disease. We compared prostate cancer-specific survival, disease stage, and tumor grade between prostate cancer patients carrying the Icelandic BRCA2 999del5 founder mutation and noncarriers.Methods Using population-based registries, we identified all 596 prostate cancer patients who were diagnosed in Iceland during 1955 through 2004 among 29603 male relatives of unselected breast cancer probands. BRCA2 mutation status could be determined for 527 patients (88.4%). Stage and grade were abstracted from original records, blindly with respect to mutation status, for a subgroup of 89 patients that included all mutation carriers and, for each carrier, two control patients without the BRCA2 999del5 mutation who were matched to the carrier on years of diagnosis and birth. Hazard ratios (HRs) and 95% confidence intervals (Cls) for prostate cancer-specific survival were estimated using multivariable regression models. All statistical tests were two-sided.Results The mutation was carried by 30 patients (5.7%). Compared with noncarriers, BRCA2 999del5 mutation carriers had a lower mean age at diagnosis (69.0 years versus 74.0 years; P=.002), more advanced tumor stage (stages 3 or 4, 79.3% versus 38.6%; P