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遗传性乳腺癌综合征与基因检测

Hereditary breast cancer syndromes and genetic testing.

作者信息

Rich Thereasa A, Woodson Ashley H, Litton Jennifer, Arun Banu

机构信息

Clinical Cancer Genetics Program, Department of Surgical Oncology, M. D. Anderson Cancer Center, Houston, Texas.

出版信息

J Surg Oncol. 2015 Jan;111(1):66-80. doi: 10.1002/jso.23791. Epub 2014 Nov 7.

Abstract

Only 5% of breast cancers are explained by highly penetrant multisystem autosomal dominant hereditary disorders. Though another 20-30% has a familial presentation, the genetic and other etiologies are still not well understood. Genetic testing is now widely available and multiple professional societies have published guidelines for testing and management. Genetic testing trends include utilization of multi-gene panels that take advantage of next-generation sequencing as well as testing for low- and moderate-penetrance susceptibility genes.

摘要

只有5%的乳腺癌是由高外显率的多系统常染色体显性遗传性疾病引起的。尽管另有20%-30%有家族性表现,但对其遗传及其他病因仍了解不足。基因检测现已广泛应用,多个专业学会已发布检测及管理指南。基因检测趋势包括利用借助新一代测序技术的多基因检测板以及检测低外显率和中等外显率的易感基因。

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