Third Department of Medical Oncology, Hygeia Hospital, Athens, Greece.
Oncologist. 2012;17(7):956-62. doi: 10.1634/theoncologist.2012-0028. Epub 2012 Jun 6.
Ovarian cancer is the leading cause of death among gynecological cancers. It exhibits great heterogeneity in tumor biology and treatment response. Germline mutations of DNA repair genes BRCA1/2 are the fundamental defects in hereditary ovarian cancer that expresses a distinct phenotype of high response rates to platinum agents, improved disease-free intervals and survival rates, and high-grade serous histology. The term "BRCAness" describes the phenotypic traits that some sporadic ovarian tumors share with tumors in BRCA1/2 germline mutation carriers and reflects similar causative molecular abnormalities. BRCA pathway studies and molecular profiling reveal BRCA-related defects in almost half of the cases of ovarian cancer. BRCA-like tumors are particularly sensitive to DNA-damaging agents (e.g., platinum agents) because of inadequate BRCA-mediated DNA repair mechanisms, such as nucleotide-excision repair and homologous recombination (HR). Additional inhibition of other DNA repair pathways leads to synthetic lethality in HR-deficient cells; this has been employed in the treatment of BRCA-like ovarian tumors with poly(ADP-ribose) polymerase inhibitors with promising results. This article presents a comprehensive review of the relevant literature on the role of BRCAness in ovarian cancer with respect to BRCA function, methods of BRCA epigenetic defect detection and molecular profiling, and the implications of BRCA dysfunction in the treatment of ovarian cancer.
卵巢癌是妇科癌症死亡的主要原因。它在肿瘤生物学和治疗反应方面表现出很大的异质性。BRCA1/2 等 DNA 修复基因的种系突变是遗传性卵巢癌的根本缺陷,表现为对铂类药物高度敏感、无病间隔和生存率提高以及高级别浆液性组织学的独特表型。“BRCA 样特征”描述了一些散发性卵巢肿瘤与 BRCA1/2 种系突变携带者肿瘤之间具有的表型特征,反映了类似的因果分子异常。BRCA 通路研究和分子谱分析显示,近一半的卵巢癌病例存在 BRCA 相关缺陷。BRCA 样肿瘤对 DNA 损伤剂(如铂类药物)特别敏感,因为 BRCA 介导的 DNA 修复机制(如核苷酸切除修复和同源重组(HR))不足。其他 DNA 修复途径的额外抑制会导致 HR 缺陷细胞的合成致死,这已被用于治疗具有聚(ADP-核糖)聚合酶抑制剂的 BRCA 样卵巢肿瘤,结果令人鼓舞。本文对 BRCA 样特征在卵巢癌中的作用进行了全面综述,涉及 BRCA 功能、BRCA 表观遗传缺陷检测和分子谱分析方法,以及 BRCA 功能障碍在卵巢癌治疗中的意义。