与BRCA相关的和偶发性卵巢癌的临床病理特征
J Boyd1, Y Sonoda, M G Federici
1Department of Surgery, Memorial Sloan-Kettering Cancer Center, New York, NY 10021, USA. boydj@mskcc.org
JAMA
|May 12, 2000
概括
与BRCA突变相关的遗传性卵巢癌表现出与零星类型相似的病理,但为患者提供更好的生存率和更长的无疾病间隔. 在与BRCA1相关的癌症中,年龄透率更高.
科学领域:
- 在瘤学瘤学.
- 遗传学 遗传学 是一个
- 妇科瘤学 妇科瘤学
背景情况:
- 大多数遗传性卵巢癌与BRCA1或BRCA2生殖系突变有关.
- 对于卵巢癌存活率的BRCA突变状态的临床意义仍在争论中.
研究的目的:
- 调查与零星类型相比,遗传性卵巢癌的独特临床和病理特征.
- 评估BRCA突变状态对患者存活时间和疾病进展的影响.
主要方法:
- 在综合癌症中心对933例卵巢癌进行了回顾性队列研究.
- 专注于犹太患者,以方便BRCA1/BRCA2基因型 (88种遗传,101种零星).
- 分析包括诊断时的年龄,阶段,组织学,年级,手术结果,化疗反应和生存率.
主要成果:
- 在较年轻的平均年龄被诊断出遗传性癌症 (BRCA1为54岁,BRCA2为62岁;P=.04).
- 在遗传病例和零星病例之间具有相似的组织学,等级,阶段和外科手术结果.
- 遗传组显示出更长的无病间隔 (14 vs. 7 个月;P<.001) 和改善的生存率 (P=.004).
- BRCA突变状态是第三阶段癌症的独立预后变量 (P=.03).
结论:
- 与BRCA相关的遗传性卵巢癌与零星癌症有着相同的外科/病理特征.
- 晚期遗传性卵巢癌患者的生存时间更长.
- 与BRCA1相关的遗传性卵巢癌相比,与BRCA2相关的遗传性卵巢癌的年龄透率更高.
相关概念视频
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Genes usually encode proteins necessary for the proper functioning of a healthy cell. Mutations can often cause changes to the gene expression pattern, thereby altering the phenotype.
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Such genes that act...
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