Howarth Dt R, Lum Sharon S, Esquivel Pamela, Garberoglio Carlos A, Senthil Maheswari, Solomon Naveenraj L
Loma Linda University Health, Loma Linda, California, USA.
Am Surg. 2015 Oct;81(10):941-4.
Multigene panel testing for hereditary cancer risk has recently become commercially available; however, the impact of its use on patient care is undefined. We sought to evaluate results from implementation of panel testing in a multidisciplinary cancer center. We performed a retrospective review of consecutive patients undergoing genetic testing after initiating use of multigene panel testing at Loma Linda University Medical Center. From February 13 to August 25, 2014, 92 patients were referred for genetic testing based on National Comprehensive Cancer Network guidelines. Testing was completed in 90 patients. Overall, nine (10%) pathogenic mutations were identified: five BRCA1/2, and four in non-BRCA loci. Single-site testing identified one BRCA1 and one BRCA2 mutation. The remaining mutations were identified by use of panel testing for hereditary breast and ovarian cancer. There were 40 variants of uncertain significance identified in 34 patients. The use of panel testing more than doubled the identification rate of clinically significant pathogenic mutations that would have been missed with BRCA testing alone. The large number of variants of uncertain significance identified will require long-term follow-up for potential reclassification. Multigene panel testing provides additional information that may improve patient outcomes.
用于遗传性癌症风险评估的多基因检测最近已商业化；然而，其在患者护理中的作用尚不明确。我们试图评估多基因检测在多学科癌症中心实施的结果。我们对洛马林达大学医学中心开始使用多基因检测后连续接受基因检测的患者进行了回顾性研究。2014年2月13日至8月25日，根据美国国立综合癌症网络指南，92例患者被转诊进行基因检测。90例患者完成检测。总体而言，共鉴定出9个（10%）致病突变：5个BRCA1/2突变，4个非BRCA位点突变。单基因检测鉴定出1个BRCA1和1个BRCA2突变。其余突变通过遗传性乳腺癌和卵巢癌多基因检测鉴定。34例患者中鉴定出40个意义未明的变异。与仅进行BRCA检测相比，多基因检测使临床上有意义的致病突变检出率增加了一倍多。大量意义未明的变异需要长期随访以进行潜在的重新分类。多基因检测可提供更多信息，可能改善患者预后。
