BRCA基因检测进展

Advances in BRCA gene testing

研究表明,BRCA1/2基因突变是遗传性乳腺癌/卵巢癌综合征的主要致病因素,可导致乳腺癌、卵巢癌、结肠癌、胰腺癌及前列腺癌等风险显著增加。BRCA基因检测可帮助临床进行准确的治疗和判断预后、评估家属遗传风险,有助于采取预防性手术等。目前国内BRCA基因检测的有三代测序技术,每一代又有许多检测平台,有各自的优缺点。国内外的BRCA1/2基因检测应用因为患病人群特征、仪器设备、医疗水平等因素而有所差异。本文综述BRCA基因检测的研究进展及临床应用。

Studies have shown that breast cancer susceptibility gene 1/2(BRCA1/2) fund mutation is a major causative factor in hereditary breast cancer/ovarian cancer syndrome, leading to a significantly increased risk of breast, ovarian, colon, pancreatic, and prostate cancers, etc. BRCA gene testing is helpful for accurate clinical treatment, evaluation of the prognosis, assessment of the genetic risk in family members, and application of preventive surgery, etc. Currently, there are three generations of BRCA gene sequencing technologies in China,and each has its own advantages and disadvantages and is bound with many testing platforms. The application of BRCA1/2 gene testing in China and abroad varies depending on the characteristics of the patients, instrumentation,and medical level. This paper herein reviews the study advances and clinical applications of BRCA gene testing.