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按癌症部位进行的基因检测:卵巢。

Genetic testing by cancer site: ovary.

机构信息

NorthShore University HealthSystem, Center for Medical Genetics, Evanston, IL 60201, USA.

出版信息

Cancer J. 2012 Jul-Aug;18(4):320-7. doi: 10.1097/PPO.0b013e31826246c2.

Abstract

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.

摘要

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)。

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