NorthShore University HealthSystem, Center for Medical Genetics, Evanston, IL 60201, USA.
Cancer J. 2012 Jul-Aug;18(4):320-7. doi: 10.1097/PPO.0b013e31826246c2.
Approximately 1 in every 4 to 5 women with a diagnosis of ovarian cancer has a hereditary gene mutation that is responsible for the development of her cancer. Identifying women at increased risk of developing ovarian cancer due to a hereditary cancer syndrome can allow for early detection or prevention of not only ovarian cancer, but also other cancers, depending on the causative gene. This review focuses on 3 of the most common hereditary ovarian cancer syndromes, hereditary breast and ovarian cancer syndrome (the BRCA1 and BRCA2 genes), Lynch syndrome (also known as hereditary nonpolyposis colorectal cancer syndrome), and Peutz-Jeghers syndrome, including key features, genetics, and management of these syndromes. In addition, newly discovered genes (eg, RAD51C and RAD51D) linked to ovarian cancer are discussed.
约每 4 至 5 位被诊断出卵巢癌的女性中，就有 1 位存在导致其癌症发生的遗传性基因突变。由于遗传性癌症综合征，女性患卵巢癌的风险增加，可以通过早期检测或预防不仅是卵巢癌，而且还可以预防其他癌症，具体取决于致病基因。这篇综述主要集中在 3 种最常见的遗传性卵巢癌综合征，遗传性乳腺癌和卵巢癌综合征（BRCA1 和 BRCA2 基因）、林奇综合征（也称为遗传性非息肉病性结直肠癌综合征）和 Peutz-Jeghers 综合征，包括这些综合征的关键特征、遗传学和管理。此外，还讨论了与卵巢癌相关的新发现基因（如 RAD51C 和 RAD51D）。
