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亚洲国家乳腺癌中BRCA1和BRCA2有害突变的综合谱系。

Comprehensive spectrum of BRCA1 and BRCA2 deleterious mutations in breast cancer in Asian countries.

作者信息

Kwong Ava, Shin Vivian Y, Ho John C W, Kang Eunyoung, Nakamura Seigo, Teo Soo-Hwang, Lee Ann S G, Sng Jen-Hwei, Ginsburg Ophira M, Kurian Allison W, Weitzel Jeffrey N, Siu Man-Ting, Law Fian B F, Chan Tsun-Leung, Narod Steven A, Ford James M, Ma Edmond S K, Kim Sung-Won

机构信息

Department of Surgery, The University of Hong Kong, Hong Kong, Hong Kong Hong Kong Hereditary Breast Cancer Family Registry, Hong Kong, Hong Kong Departments of Medicine (Oncology) and Genetics, Stanford University School of Medicine, Stanford, California, USA Department of Surgery, Hong Kong Sanatorium & Hospital, Hong Kong, Hong Kong.

Department of Surgery, The University of Hong Kong, Hong Kong, Hong Kong.

出版信息

J Med Genet. 2016 Jan;53(1):15-23. doi: 10.1136/jmedgenet-2015-103132. Epub 2015 Jul 17.

Abstract

Approximately 5%-10% of breast cancers are due to genetic predisposition caused by germline mutations; the most commonly tested genes are BRCA1 and BRCA2 mutations. Some mutations are unique to one family and others are recurrent; the spectrum of BRCA1/BRCA2 mutations varies depending on the geographical origins, populations or ethnic groups. In this review, we compiled data from 11 participating Asian countries (Bangladesh, Mainland China, Hong Kong SAR, Indonesia, Japan, Korea, Malaysia, Philippines, Singapore, Thailand and Vietnam), and from ethnic Asians residing in Canada and the USA. We have additionally conducted a literature review to include other Asian countries mainly in Central and Western Asia. We present the current pathogenic mutation spectrum of BRCA1/BRCA2 genes in patients with breast cancer in various Asian populations. Understanding BRCA1/BRCA2 mutations in Asians will help provide better risk assessment and clinical management of breast cancer.

摘要

大约5%-10%的乳腺癌是由种系突变引起的遗传易感性所致;最常检测的基因是BRCA1和BRCA2突变。一些突变是某个家族所特有的,而其他的则是反复出现的;BRCA1/BRCA2突变谱因地理来源、人群或种族而异。在本综述中,我们汇总了来自11个参与研究的亚洲国家(孟加拉国、中国内地、中国香港特别行政区、印度尼西亚、日本、韩国、马来西亚、菲律宾、新加坡、泰国和越南)以及居住在加拿大和美国的亚裔的数据。我们还进行了文献综述,纳入了主要位于中亚和西亚的其他亚洲国家。我们展示了不同亚洲人群乳腺癌患者中BRCA1/BRCA2基因目前的致病突变谱。了解亚洲人中的BRCA1/BRCA2突变将有助于为乳腺癌提供更好的风险评估和临床管理。

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