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遗传性妇科肿瘤与精准癌症医学

Hereditary gynecologic tumors and precision cancer medicine.

作者信息

Ogawa Chikako, Hirasawa Akira, Ida Naoyuki, Nakamura Keiichiro, Masuyama Hisashi

机构信息

Department of Obstetrics and Gynecology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University, Okayama, Japan.

Department of Clinical Genomic Medicine, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University, Okayama, Japan.

出版信息

J Obstet Gynaecol Res. 2022 May;48(5):1076-1090. doi: 10.1111/jog.15197. Epub 2022 Feb 28.

Abstract

Gynecologic cancers are more often caused by genetic factors than other cancers. Genetic testing has become a promising avenue for the prevention, prognosis, and treatment of cancers. This review describes molecular features of gynecologic tumors linked to hereditary syndromes, gives an overview of the current state of clinical management, and clarifies the role of gynecology in the treatment of hereditary tumors. Typical hereditary gynecologic tumors include hereditary breast and ovarian cancer, Lynch syndrome, Peutz-Jeghers syndrome, and Cowden syndrome. Multigene panel testing, which analyzes a preselected subset of genes for genetic variants, has recently become the first-choice test because it can provide more accurate risk assessment than a single test. Furthermore, comprehensive genomic cancer profiling enables personalized cancer treatment and aids in germline findings.

摘要

与其他癌症相比,妇科癌症更常由遗传因素引起。基因检测已成为癌症预防、预后和治疗的一个有前景的途径。本综述描述了与遗传性综合征相关的妇科肿瘤的分子特征,概述了临床管理的现状,并阐明了妇科在遗传性肿瘤治疗中的作用。典型的遗传性妇科肿瘤包括遗传性乳腺癌和卵巢癌、林奇综合征、黑斑息肉综合征和考登综合征。多基因检测 panel 可分析预先选定的一组基因以检测遗传变异,最近已成为首选检测方法,因为它比单一检测能提供更准确的风险评估。此外,全面的基因组癌症分析有助于个性化癌症治疗并辅助种系检测结果。

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