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2017年4月19日，《美国医学会杂志外科学分册》在线发表亚利桑那大学医学中心的综述，讨论了基因检测对于有乳腺癌风险患者的作用。 2009～2013年，美国的乳腺癌发病率高于其他癌症，死亡率仅次于肺癌，大约5%～10%的乳腺癌为遗传性。高达30%的遗传性乳腺癌乳腺癌存在易感基因（BRCA1和BRCA2）种系突变占，最常见于早发性乳腺癌、三阴性乳腺癌、双侧乳腺癌、家族性乳腺癌患者。较少见的非BRCA突变也与遗传性乳腺癌综合征有相关性。虽然基因检测的指征和解读，对于BRCA突变已经明确，但是对于非BRCA突变尚未明确。此外，基因检测相关费用可变性较大，并且取决于实验室定价、保险范围、个体风险因素。 因此，基因检测是一种强大的工具，可以检测乳腺癌高风险个体的BRCA和非BRCA种系突变，从而有助于个体化治疗。由于该疾病的严重性，对于包括普通外科医生在内的医生而言，了解乳腺癌患者基因检测相关指征、解读、费用是非常有益的。费用是基因检测过程特别重要的部分，也是与患者讨论的重点。 JAMA Surg. 2017 Apr 19. [Epub ahead of print] The Role of Genetic Testing in Patients With Breast Cancer: A Review. Valencia OM, Samuel SE, Viscusi RK, Riall TS, Neumayer LA, Aziz H. Division of Surgical Oncology, Department of Surgery, Banner University Medical Center Tucson, Tucson, Arizona. This review discusses the role of genetic testing in patients at risk for breast cancer. IMPORTANCE: In the United States from 2009 to 2013, the incidence of breast cancer was the highest of any cancer and the death rate was second to that of lung cancer. Approximately 5% to 10% of breast cancers are inheritable. CONCLUSIONS AND RELEVANCE: Genetic testing is a powerful tool that allows for the detection of BRCA and non-BRCA germline mutations in individuals with high risks of breast cancer, which in turn aids in the individualization of treatment. Given the magnitude of this disease, it is of great benefit for physicians, including general surgeons, to understand the indications, interpretations, and costs associated with genetic testing in patients with breast cancer. Cost is an especially important part of the genetic testing process and point of discussion with patients. PMID: 28423155 DOI: 10.1001/jamasurg.2017.0552 |
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