BRCA与乳腺癌相关的高外显率基因。
BRCA and Breast Cancer-Related High-Penetrance Genes.
作者信息
Han Sang-Ah, Kim Sung-Won
机构信息
Kyung Hee University, School of Medicine, Seoul, South Korea.
Daerim St.Mary's Hospital, Seoul, South Korea.
出版信息
Adv Exp Med Biol. 2021;1187:473-490. doi: 10.1007/978-981-32-9620-6_25.
Genetic susceptibility explains 5-10% of all breast cancer cases. High-penetrance breast cancer susceptibility genes deliberate a greater than tenfold relative risk of breast cancer. BRCA1 and BRCA2 genes are the most common cause of hereditary breast cancer, and TP53, PTEN, and SKT11 (LKB1) are rarely present. The prevalence of BRCA1 and BRCA2 genetic alterations differ in various ethnic groups. The Korean Hereditary Breast Cancer (KOHBRA) Study, nationwide-scale study, was established to acquire evidence for the accurate risk assessment and management of hereditary breast and ovarian cancer (HBOC) in Korea prospectively since 2007. In this chapter, we review previous research related to hereditary breast cancer and summarize the present concepts and research results centered on the Korean Hereditary Breast Cancer Research at this time.
遗传易感性解释了所有乳腺癌病例的5%-10%。高 penetrance 乳腺癌易感基因导致患乳腺癌的相对风险增加十倍以上。BRCA1和BRCA2基因是遗传性乳腺癌最常见的病因，而TP53、PTEN和SKT11（LKB1）很少出现。BRCA1和BRCA2基因改变的患病率在不同种族群体中有所不同。韩国遗传性乳腺癌（KOHBRA）研究是一项全国性规模的研究，自2007年起前瞻性地开展，旨在为韩国遗传性乳腺癌和卵巢癌（HBOC）的准确风险评估和管理获取证据。在本章中，我们回顾了与遗传性乳腺癌相关的既往研究，并总结了目前以韩国遗传性乳腺癌研究为中心的概念和研究结果。 （注：原文中“High-penetrance”中的“penetrance”可能有误，推测可能是“penetrant”，但按照要求未修改直接翻译）
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