Breast Cancer Prognosis in BRCA1 and BRCA2 Mutation Carriers: An International Prospective Breast Cancer Family Registry Population-Based Cohort Study
Breast Cancer Prognosis in BRCA1 and BRCA2 Mutation Carriers: An International Prospective Breast Cancer Family Registry Population-Based Cohort Study
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DOI：
10.1200/jco.2010.33.0068
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发表时间：
2012-01-01
影响因子：
45.3
通讯作者：
Longacre, Teri A.
中科院分区：
文献类型：
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作者：
Goodwin, Pamela J.;Phillips, Kelly-Anne;Longacre, Teri A.
目的比较BRCA1和BRCA2突变携带者与散发性乳腺癌患者的预后。研究人员在加拿大、美国和澳大利亚进行了一项基于国际人群的队列研究，对1995年至2000年间诊断为乳腺癌的3220名妇女进行了前瞻性观察。93人有BRCA1突变；71例BRCA2突变；一，两种突变；散发性乳腺癌1550例；1505人患有家族性乳腺癌（没有已知的BRCA1或BRCA2突变）。分析远处复发及死亡情况。结果平均诊断年龄为45.3岁；平均随访7.9年。在单变量和多变量分析中，BRCA1突变携带者和散发性疾病患者的远处复发和死亡风险无显著差异。单变量分析中，BRCA2突变携带者远端复发的风险高于散发性疾病患者（风险比[HR]， 1.63; 95% CI, 1.02 ~ 2.60; P = 0.04）。在单变量分析中，BRCA2携带者的死亡风险也更高（HR, 1.81; 95% CI， 1.15至2.86;P = 0.01）。在调整年龄、肿瘤分期和分级、淋巴结状态、激素受体和诊断年份后，观察到远处复发（HR, 1.00; 95% CI， 0.62至1.61;P = 1.00）或死亡（HR, 1.12; 95% CI， 0.70至1.79;P = 0.64）无差异。结论BRCA1突变携带者与散发性乳腺癌患者预后相似。在单变量分析中，BRCA2突变携带者的预后较差似乎反映了这些携带者存在更多的不良肿瘤特征。在多变量分析中，BRCA2携带者和散发性疾病患者也发现了类似的结果。[J]中华临床杂志，30:19-26。(c) 2011年由美国临床肿瘤学会发布
PurposeTo compare breast cancer prognosis in BRCA1 and BRCA2 mutation carriers with that in patients with sporadic disease.Patients and MethodsAn international population-based cohort study was conducted in Canada, the United States, and Australia of 3,220 women with incident breast cancer diagnosed between 1995 and 2000 and observed prospectively. Ninety-three had BRCA1 mutations; 71, BRCA2 mutations; one, both mutations; 1,550, sporadic breast cancer; and 1,505, familial breast cancer (without known BRCA1 or BRCA2 mutation). Distant recurrence and death were analyzed.ResultsMean age at diagnosis was 45.3 years; mean follow-up was 7.9 years. Risks of distant recurrence and death did not differ significantly between BRCA1 mutation carriers and those with sporadic disease in univariable and multivariable analyses. Risk of distant recurrence was higher for BRCA2 mutation carriers compared with those with sporadic disease in univariable analysis (hazard ratio [HR], 1.63; 95% CI, 1.02 to 2.60; P = .04). Risk of death was also higher in BRCA2 carriers in univariable analysis (HR, 1.81; 95% CI, 1.15 to 2.86; P = .01). After adjustment for age, tumor stage and grade, nodal status, hormone receptors, and year of diagnosis, no differences were observed for distant recurrence (HR, 1.00; 95% CI, 0.62 to 1.61; P = 1.00) or death (HR, 1.12; 95% CI, 0.70 to 1.79; P = .64).ConclusionOutcomes of BRCA1 mutation carriers were similar to those of patients with sporadic breast cancer. Worse outcomes in BRCA2 mutation carriers in univariable analysis seem to reflect the presence of more adverse tumor characteristics in these carriers. Similar outcomes were identified in BRCA2 carriers and those with sporadic disease in multivariable analyses. J Clin Oncol 30:19-26. (c) 2011 by American Society of Clinical Oncology