乳腺癌多基因检测及其临床意义

Multi-gene testing in breast cancer and clinical significance

多基因检测对于乳腺癌的预后判断和治疗方案选择具有重要的参考意义,特别是对雌激素受体阳性病人。近年来一些多基因诊断模型被美国临床肿瘤学会(ASCO)、圣加伦标准、美国国家综合癌症网络(NCCN)等多个权威乳腺癌诊疗指南所采用,并开展了临床应用。IHC4评分、Mamma Print、PAM50、Oncotype DX、Genomic grade index、Breast Cancer Index、Endo Predict和同源重组缺陷评分为7个代表性的乳腺癌多基因检测方法,不但可以用于转移复发生存风险的预测,还可以对治疗有指导意义。

Multi-gene testing（MGT） can provide informationthat could assist prognosis prediction and therapeuticdecision-making in ER-positive cancers. Recently,manyMGT models have been endorsed by the American Society ofClinical Oncology,St.Gallen and National ComprehensiveCancer Network guidelines. A panel of clinically validatedMGT models including IHC4 score,Mamma Print,PAM50,Oncotype DX,Genomic grade index,Breast Cancer Index,Endo Predict and homologous recombination deficiency scoreare seven typical MGT,which can predict the risk ofmetastasis and recurrence and guide the therapy of breastcancer.