BRCAsearch: written pre-test information and BRCA1/2 germline mutation testing in unselected patients with newly diagnosed breast cancer
BRCAsearch: written pre-test information and BRCA1/2 germline mutation testing in unselected patients with newly diagnosed breast cancer
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DOI：
10.1007/s10549-017-4584-y
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发表时间：
2018-02-01
影响因子：
3.8
通讯作者：
Loman, Niklas
中科院分区：
文献类型：
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作者：
Nilsson, Martin P.;Torngren, Therese;Loman, Niklas
评估一种简化的检测前信息和种系BRCA1/2突变检测方法。在一项前瞻性单臂研究中，在瑞典南部的三家医院对未选择的新诊断乳腺癌患者进行了全面的BRCA1/2检测（BRCAsearch, ClinicalTrials.gov识别号：NCT02557776）。测试前的信息是通过标准化的邀请函提供的，但如果患者觉得有必要，可以联系遗传咨询师进行电话遗传咨询。非携带者通过信件得知检测结果。我们联系了突变携带者，并为他们预约了测试后的当面遗传咨询。2015年2月2日至2016年8月26日期间，共邀请818名患者参与研究。截至2017年1月31日，其中542人（66.2%）同意分析BRCA1和BRCA2。发现11个致病突变（BRCA1, n = 2; BRCA2, n = 9），对应的突变患病率为2.0%。11个中有6个符合瑞典BRCA测试标准，9个符合NCCN测试标准。所有brca相关肿瘤均为腔内a样亚型。很少有患者联系我们进行电话遗传咨询或实际问题，这表明大多数人认为书面的测试前信息足以让他们做出测试的决定。简化检测前信息、基因检测和检测结果的传递过程是可行的，并且与2/3的乳腺癌患者接受基因检测有关。
To evaluate a simplified method of pre-test information and germline BRCA1/2 mutation testing.In a prospective, single-arm study, comprehensive BRCA1/2 testing was offered to unselected patients with newly diagnosed breast cancer at three hospitals in south Sweden (BRCAsearch, ClinicalTrials.gov Identifier: NCT02557776). Pre-test information was provided by a standardized invitation letter, but the patients could contact a genetic counselor for telephone genetic counseling if they felt a need for that. Noncarriers were informed about the test result through a letter. Mutation carriers were contacted and offered an appointment for in-person post-test genetic counseling.During the period Feb 2, 2015-Aug 26, 2016, eight hundred and eighteen patients were invited to participate in the study. Through Jan 31, 2017, five hundred and forty-two (66.2%) of them consented to analysis of BRCA1 and BRCA2. Eleven pathogenic mutations were found (BRCA1, n = 2; BRCA2, n = 9), corresponding to a mutation prevalence of 2.0%. Six out of 11 fulfilled the Swedish BRCA testing criteria, and 9 out of 11 fulfilled the NCCN testing criteria. None of the BRCA-associated tumors were of the luminal A-like subtype. Very few patients contacted us for telephone genetic counseling or practical questions, suggesting that a majority felt that the written pre-test information was sufficient for them to make a decision on testing.Streamlining the process of pre-test information, genetic testing, and delivery of test results was feasible and was associated with an uptake of genetic testing in 2/3 of the breast cancer patients.