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PMID: 26187060 已发表 · ppublish 英语

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

Journal of medical genetics ·第 53 卷 ·第 1 期 ·2016-10-12

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

摘要

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.

关键词
Asians BRCA1 BRCA2 Cancer: breast Germline mutations
文献信息
期刊
Journal of medical genetics
期刊简称
J Med Genet
发表日期
2016-10-12
收录日期
2015-12-16
更新日期
2016-11-10
语言
英语
国家/地区
England
NLM ID
2985087R
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