Cancer incidence in BRCA1 mutation carriers
Cancer incidence in BRCA1 mutation carriers
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DOI：
10.1093/jnci/94.18.1358
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发表时间：
2002-09-18
影响因子：
10.3
通讯作者：
Easton, DF
中科院分区：
文献类型：
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作者：
Thompson, D;Easton, DF
背景资料：生殖系BRCA1突变赋予乳腺癌和卵巢癌的终生风险，但其他部位的癌症是否增加尚不清楚。为了评估BRCA1突变携带者患其他癌症的风险，我们对来自699个家庭的11847名个体进行了一项队列研究，这些家庭在欧洲和北美的30个中心确定了BRCA1突变。方法：将观察到的癌症发病率与基于人群癌症发病率的预期癌症发病率进行比较。BRCA1携带者中每种癌症类型相对于一般人群风险的相对风险（RR）是通过根据其作为突变携带者的估计概率加权个体来估计的。所有统计学检验均为双侧检验。结果如下：BRCA1突变携带者患几种癌症的风险在统计学上显著增加，包括胰腺癌（RR = 2.26，95%置信区间[CI] 1.26至4.06，P = 0.004）和子宫体和宫颈癌（子宫体RR = 2.65，95% CI = 1.69至4.16，P = 0.005）。
Background: Germline BRCA1 mutations confer a substantial lifetime risk of breast and ovarian cancer, but whether cancer at other sites is increased is less clear. To evaluate the risks of other cancers in BRCA1 mutation carriers, we conducted a cohort study of 11847 individuals from 699 families segregating a BRCA1 mutation that were ascertained in 30 centers across Europe and North America. Methods: The observed cancer incidence was compared with the expected cancer incidence based on population cancer rates. Relative risks (RRs) of each cancer type in BRCA1 carriers relative to risks for the general population were estimated by weighting individuals according to their estimated probability of being a mutation carrier. All statistical tests were two-sided. Results: BRCA1 mutation carriers were at a statistically significantly increased risk for several cancers, including pancreatic cancer (RR = 2.26, 95% confidence interval [CI] 1.26 to 4.06, P =.004) and cancer of the uterine body and cervix (uterine body RR = 2.65, 95% CI = 1.69 to 4.16, P