Kim Jihye, Choi Chel Hun
Department of Obstetrics and Gynecology, Chung-Ang University Gwangmyeong Hospital, Gwangmyeong, Korea.
Department of Obstetrics and Gynecology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
Obstet Gynecol Sci. 2024 Jul;67(4):343-355. doi: 10.5468/ogs.24054. Epub 2024 May 31.
Significant progress has been made in the molecular diagnosis of cancer. It provides personalized medicine, including cancer diagnosis, prognosis, targeted therapy, and risk detection. These advances allow physicians to identify patients at risk for cancer before it develops and offer them an opportunity to prevent its development. Mutations in breast cancer susceptibility genes 1 and 2 (BRCA1 and 2) are one of the most well-known cancer-related gene mutations since actor Angelina Jolie shared her experience with genetic mutations and risk-reducing surgery in the media. In Korea, tests for germline BRCA1/2 mutations have been covered by insurance since May 2012 and the number of women of BRCA1/2 mutations has continued to increase over the past decade. Most carriers of BRCA1/2 mutations consider risk-reducing salpingo-oophorectomy (RRSO) resulting in early menopause and want to know the lifetime risks and benefits of RRSO. However, despite the increasing number of carriers of BRCA1/2 mutations, the counseling and management of patients requiring RRSO varies among physicians. This article provides basic knowledge on RRSO to help physicians comprehensively assess its risks and benefits and manage at-risk women.
癌症的分子诊断已取得重大进展。它提供个性化医疗,包括癌症诊断、预后评估、靶向治疗和风险检测。这些进展使医生能够在癌症发生之前识别出有患癌风险的患者,并为他们提供预防癌症发展的机会。自演员安吉丽娜·朱莉在媒体上分享她的基因突变及降低风险手术经历以来,乳腺癌易感基因1和2(BRCA1和BRCA2)的突变是最广为人知的与癌症相关的基因突变之一。在韩国,自2012年5月起,胚系BRCA1/2突变检测已纳入医保范围,在过去十年中,携带BRCA1/2突变的女性数量持续增加。大多数BRCA1/2突变携带者考虑进行导致早期绝经的降低风险的输卵管卵巢切除术(RRSO),并想了解RRSO的终生风险和益处。然而,尽管携带BRCA1/2突变的人数不断增加,但对于需要RRSO的患者的咨询和管理在医生中却存在差异。本文提供有关RRSO的基础知识,以帮助医生全面评估其风险和益处,并管理有风险的女性。