妇科肿瘤的遗传易感性研究进展

妇科恶性肿瘤严重威胁着女性的健康，近年来随着技术的发展，在影响妇科肿瘤发生、发展的诸多因素中，遗传易感性逐渐被重视。研究表明多达10%的肿瘤可归因于遗传基因突变，这种基因突变增强了个体对特定癌症的易感性。具有特定癌症风险的个体所面临的最大挑战是开发和普及更好的检测方法来及时发现高危人群。在这一领域，我国起步晚，发展较慢，基因筛查项目并未普及到现行妇科肿瘤的筛查项目行列。现就妇科遗传性肿瘤中最常见的遗传癌症综合征：遗传性乳腺癌-卵巢癌综合征、林奇综合征以及多发性错构瘤综合征，从临床特征、基因及基因检测、预防与治疗等方面的现状及进展进行综述，以期增加人们对遗传癌症综合征的全面了解，重点强调高危人群均应行相关基因筛查，进而在发病前实施临床干预措施，使患者受益。

Genetic Predisposition in Gynecologic Cancers

Gynecological malignancy is a serious threat to women′s health. In recent years, with the development of technology, genetic susceptibility has been paid more and more attention in many factors affecting the development of gynecological tumors. Studies show that up to 10 percent of tumors can be attributed to genetic mutations which increases an individual′s susceptibility to certain cancers. The biggest challenge for individuals at particular risk of cancer is to develop and popularize better testing methods to detect high-risk groups in a timely manner. In this field, China started late and developed slowly and genetic screening programs have not been widely popularize to current screening program of gynecological oncology. In this review, the most common hereditary cancer syndromes in gynecological hereditary tumors, including hereditary breast-ovarian cancer syndrome, Lynch syndrome and multiple hamartoma syndrome, are reviewed from the aspects of clinical features, gene and gene detection, prevention and treatment, so as to increase people′s comprehensive understanding to hereditary cancer syndromes. This paper emphasizes that all high-risk groups should be screened for relevant genes, and clinical intervention should be implemented before the onset of disease, which can benefit patients.