【佳学基因检测】用于遗传性乳腺癌和妇科癌症风险评估的下一代测序

靶向药基因检测两万有必要吗—标准

与专家交流知道《Curr Opin Obstet Gynecol》在 2015 Feb;27(1):23-33发表了一篇题目为《用于遗传性乳腺癌和妇科癌症风险评估的下一代测序》肿瘤靶向药物治疗基因检测临床研究文章。该研究由Allison W Kurian, Kerry E Kingham, James M Ford等完成。促进了肿瘤的精准治疗与个性化用药的发展，进一步强调了基因信息检测与分析的重要性。

肿瘤靶向药物及精准治疗临床研究内容关键词：

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肿瘤靶向治疗基因检测临床应用结果

审查目的：总结下一代测序的进展及其在乳腺癌和妇科癌症风险评估中的应用。最近的发现：6-112 个癌症相关基因的下一代测序面板越来越多地用于患者护理。研究报告称，在符合 BRCA1/2 检测循证实践指南的患者中，除 BRCA1/2 以外的突变发生率为 4-16%，其中意义不明的不可解释变异发生率很高（15-88%）。 Despite uncertainty about results interpretation and communication, there is early evidence of a benefit from multiple-gene sequencing panels for appropriately selected patients.Summary: Multiple-gene sequencing panels appear highly promising for the assessment of breast and gynecologic cancer risk, and they may usefully在癌症遗传学专业知识和/或临床研究方案的背景下进行管理。

肿瘤发生与复发转移国际数据库描述：

Purpose of review: To summarize advances in next-generation sequencing and their application to breast and gynecologic cancer risk assessment.Recent findings: Next-generation sequencing panels of 6-112 cancer-associated genes are increasingly used in patient care. Studies report a 4-16% prevalence of mutations other than BRCA1/2 among patients who meet evidence-based practice guidelines for BRCA1/2 testing, with a high rate (15-88%) of uninterpretable variants of uncertain significance. Despite uncertainty about results interpretation and communication, there is early evidence of a benefit from multiple-gene sequencing panels for appropriately selected patients.Summary: Multiple-gene sequencing panels appear highly promising for the assessment of breast and gynecologic cancer risk, and they may usefully be administered in the context of cancer genetics expertise and/or clinical research protocols.