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BRCA相关卵巢癌的临床特征与预后:基因型与生存率

Clinical characteristics and outcomes of BRCA-associated ovarian cancer: genotype and survival.

作者信息

Liu Joyce, Cristea Mihaela C, Frankel Paul, Neuhausen Susan L, Steele Linda, Engelstaedter Verena, Matulonis Ursula, Sand Sharon, Tung Nadine, Garber Judy E, Weitzel Jeffrey N

机构信息

Department of Medical Oncology, Dana-Farber/Partners CancerCare, Boston, MA, USA.

出版信息

Cancer Genet. 2012 Jan-Feb;205(1-2):34-41. doi: 10.1016/j.cancergen.2012.01.008.

Abstract

Previous studies have suggested that BRCA-related epithelial ovarian cancer (EOC) conveys improved survival compared with that of sporadic EOC, but few studies have evaluated differences between BRCA genotypes. We compared characteristics and outcome by genotype in BRCA-associated EOC. Patients with BRCA-associated EOC who were diagnosed between January 30,1981, and December 30, 2008, were retrospectively identified through institutional review board-approved registry studies. We examined clinical characteristics, including event-free survival (EFS) and overall survival (OS), for BRCA1 versus BRCA2 patients. We identified 197 cases (148 BRCA1 cases; 49 BRCA2 cases); the median follow-up period was 63 months. BRCA2 patients were older (55.4 vs. 51.1 y; P < 0.01) and had fewer poorly differentiated tumors (67% vs. 82%; P < 0.05). No difference in EFS was observed. OS at 5 years was 75% in BRCA2 patients versus 61% in BRCA1 patients; this was not statistically significant. A non-significant trend toward improved OS was observed in BRCA2 patients with advanced-stage disease (hazard ratio = 0.59; 95% confidence interval 0.32-1.08). Age and grade differed significantly between BRCA1 and BRCA2 carriers in our study population. Whereas no overall differences in EFS or OS were observed, there was a trend toward improved OS in BRCA2 carriers with advanced-stage disease. This may reflect important differences between BRCA genotypes and should be validated in larger studies.

摘要

既往研究表明,与散发性上皮性卵巢癌(EOC)相比,BRCA相关的EOC患者生存率更高,但很少有研究评估BRCA基因型之间的差异。我们比较了BRCA相关EOC患者不同基因型的特征及预后。通过机构审查委员会批准的登记研究,对1981年1月30日至2008年12月30日期间诊断为BRCA相关EOC的患者进行回顾性识别。我们检查了BRCA1和BRCA2患者的临床特征,包括无事件生存期(EFS)和总生存期(OS)。我们共识别出197例患者(148例BRCA1患者;49例BRCA2患者);中位随访时间为63个月。BRCA2患者年龄更大(55.4岁对51.1岁;P<0.01),低分化肿瘤更少(67%对82%;P<0.05)。未观察到EFS有差异。BRCA2患者5年OS率为75%,而BRCA1患者为61%;差异无统计学意义。在晚期疾病的BRCA2患者中观察到OS有改善的非显著趋势(风险比=0.59;95%置信区间0.32-1.08)。在我们的研究人群中,BRCA1和BRCA2携带者的年龄和分级存在显著差异。虽然未观察到EFS或OS有总体差异,但晚期疾病的BRCA2携带者有OS改善的趋势。这可能反映了BRCA基因型之间的重要差异,应在更大规模的研究中进行验证。

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