Kurian Allison W, Kingham Kerry E, Ford James M
aDepartments of Medicine bHealth Research and Policy cPediatrics dGenetics, Stanford University School of Medicine, Stanford, California, USA.
Curr Opin Obstet Gynecol. 2015 Feb;27(1):23-33. doi: 10.1097/GCO.0000000000000141.
To summarize advances in next-generation sequencing and their application to breast and gynecologic cancer risk assessment.
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.
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.
总结下一代测序技术的进展及其在乳腺癌和妇科癌症风险评估中的应用。
包含6 - 112个癌症相关基因的下一代测序panel在患者护理中使用得越来越多。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外的其他基因突变发生率为4% - 16%，意义不明确的不可解释变异率较高（15% - 88%）。尽管结果解读和沟通存在不确定性，但有早期证据表明，对于适当选择的患者，多基因测序panel有益处。
多基因测序panel在评估乳腺癌和妇科癌症风险方面似乎很有前景，并且可以在癌症遗传学专业知识和/或临床研究方案的背景下有效应用。
