Bonadio Renata Colombo, Crespo Jéssica Rojas, Estevez-Diz Maria Del Pilar
Instituto do Cancer do Estado de São Paulo, Faculdade de Medicina do Estado de Sao Paulo, Sao Paulo, Brazil.
Instituto D'Or de Ensino e Pesquisa, Oncologia D'Or, Sao Paulo, Brazil.
Ann Transl Med. 2020 Dec;8(24):1704. doi: 10.21037/atm-20-1582.
Ovarian cancer is one of the cancers most influenced by hereditary factors. Testing for hereditary susceptibility genes is recommended for every woman with epithelial ovarian cancer (EOC). Pathogenic germline variants in and genes are responsible for a substantial fraction of hereditary ovarian cancer. However, alterations in other genes, such as , , , and mismatch repair genes, also enhance ovarian cancer risk. Other genes may also participate in ovarian carcinogenesis, but their role as ovarian cancer susceptibility genes still needs to be clarified. With several genes involved, the complexity of genetic testing increases. In this context, next-generation sequencing (NGS) allows testing for multiple genes simultaneously, with rapid turn-around time. However, the incorporation of this technology into clinical practice faces some challenges. In this review, we will discuss the ovarian cancer risk assessment in the era of NGS.
卵巢癌是受遗传因素影响最大的癌症之一。建议对每一位上皮性卵巢癌（EOC）患者进行遗传性易感性基因检测。BRCA1和BRCA2基因中的致病性种系变异是遗传性卵巢癌的重要原因。然而，其他基因的改变，如RAD51、BRIP1、PALB2和错配修复基因，也会增加卵巢癌风险。其他基因也可能参与卵巢癌的发生，但它们作为卵巢癌易感基因的作用仍有待阐明。由于涉及多个基因，基因检测的复杂性增加。在这种情况下，下一代测序（NGS）允许同时检测多个基因，周转时间短。然而，将这项技术应用于临床实践面临一些挑战。在这篇综述中，我们将讨论NGS时代的卵巢癌风险评估。
