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Abstract：
OBJECTIVE: To conduct a systematic review of international guidelines on screening and management of patients with BRCA-mutated breast cancer (BC).
METHODS: Major electronic databases (MEDLINE and Embase; N=8) and gray literature sources were searched (January 2007 to February 2018). Latest guideline recommendations on genetic screening, counseling, and BC treatment of BRCA mutation carriers were summarized. Guidelines specific to germline BRCA (gBRCA) mutation were captured where available.
RESULTS: A total of 3,775 records were retrieved and 32 guidelines were included; Europe (n=16), USA (n=11), Canada (n=3), Australia (n=1), and Japan (n=1) were included. Across and within guidelines, genetic counseling was recommended at multiple points in the care pathway, though the format was not always clearly defined. US guidelines emphasized that BRCA mutation testing should occur after specialized genetic counseling; other European guidelines are less prescriptive. BRCA testing eligibility criteria differed, with some guidelines being less restrictive; US National Comprehensive Cancer Network (NCCN) BC guidelines specified that HER2-negative BC patients eligible for single-agent therapy are eligible for gBRCA testing. Fast-track BRCA testing is recommended in the Netherlands if treatment choice will affect survival, but in the UK only as part of clinical trials. More recent European (European School of Oncology-European Society for Medical Oncology 3rd International Consensus Guidelines for Breast Cancer in Young Women 2017, Arbeitsgemeinschaft Gynäkologische Onkologie 2017 in Germany) and US (NCCN) guidelines have updated recommendations regarding gBRCA-targeted poly(ADP-ribose) polymerase (PARP) inhibitor therapy in BC.
CONCLUSIONS: Regional and organizational guidelines differ for genetic screening, counseling, and treatment of patients with BRCA-mutated BC. Guideline harmonization would optimize identification and management of these patients.
METHODS: Major electronic databases (MEDLINE and Embase; N=8) and gray literature sources were searched (January 2007 to February 2018). Latest guideline recommendations on genetic screening, counseling, and BC treatment of BRCA mutation carriers were summarized. Guidelines specific to germline BRCA (gBRCA) mutation were captured where available.
RESULTS: A total of 3,775 records were retrieved and 32 guidelines were included; Europe (n=16), USA (n=11), Canada (n=3), Australia (n=1), and Japan (n=1) were included. Across and within guidelines, genetic counseling was recommended at multiple points in the care pathway, though the format was not always clearly defined. US guidelines emphasized that BRCA mutation testing should occur after specialized genetic counseling; other European guidelines are less prescriptive. BRCA testing eligibility criteria differed, with some guidelines being less restrictive; US National Comprehensive Cancer Network (NCCN) BC guidelines specified that HER2-negative BC patients eligible for single-agent therapy are eligible for gBRCA testing. Fast-track BRCA testing is recommended in the Netherlands if treatment choice will affect survival, but in the UK only as part of clinical trials. More recent European (European School of Oncology-European Society for Medical Oncology 3rd International Consensus Guidelines for Breast Cancer in Young Women 2017, Arbeitsgemeinschaft Gynäkologische Onkologie 2017 in Germany) and US (NCCN) guidelines have updated recommendations regarding gBRCA-targeted poly(ADP-ribose) polymerase (PARP) inhibitor therapy in BC.
CONCLUSIONS: Regional and organizational guidelines differ for genetic screening, counseling, and treatment of patients with BRCA-mutated BC. Guideline harmonization would optimize identification and management of these patients.
摘要：
目的：对BRCA突变乳腺癌（BC）患者筛查和管理的国际指南进行系统评价。
方法：检索了主要电子数据库（MEDLINE和Embase；N=8）和灰色文献来源（2007年1月至2018年2月）。关于基因筛查的最新指南建议，咨询,并对BRCA突变携带者的BC治疗进行了总结。在可用的情况下,捕获对种系BRCA(gBRCA)突变特异性的指南。
结果：共检索到3,775条记录，包括32条指南；欧洲（n=16），美国（n=11），加拿大（n=3），澳大利亚（n=1），包括日本（n=1）。在准则范围内，在护理路径的多个点建议遗传咨询，虽然格式并不总是明确定义。美国指南强调，BRCA突变检测应在专门的遗传咨询之后进行；其他欧洲指南的规定性较低。BRCA测试合格标准不同，一些指南限制较少;美国国家综合癌症网络(NCCN)BC指南规定,符合单药治疗条件的HER2阴性BC患者符合gBRCA检测条件.如果治疗选择会影响生存率，则建议在荷兰进行快速BRCA测试。但在英国仅作为临床试验的一部分。最新的欧洲（欧洲肿瘤学院-欧洲医学肿瘤学会2017年青年女性乳腺癌国际共识指南，德国ArbeitsgemeinschaftGynäkologischeOnkologoge2017）和美国（NCCN）指南更新了有关gBRCA靶向聚（ADP-核糖）聚合酶（PARP）抑制剂治疗的建议。
结论：区域和组织指南在遗传筛查方面有所不同，咨询,和BRCA突变BC患者的治疗。指南协调将优化这些患者的识别和管理。
方法：检索了主要电子数据库（MEDLINE和Embase；N=8）和灰色文献来源（2007年1月至2018年2月）。关于基因筛查的最新指南建议，咨询,并对BRCA突变携带者的BC治疗进行了总结。在可用的情况下,捕获对种系BRCA(gBRCA)突变特异性的指南。
结果：共检索到3,775条记录，包括32条指南；欧洲（n=16），美国（n=11），加拿大（n=3），澳大利亚（n=1），包括日本（n=1）。在准则范围内，在护理路径的多个点建议遗传咨询，虽然格式并不总是明确定义。美国指南强调，BRCA突变检测应在专门的遗传咨询之后进行；其他欧洲指南的规定性较低。BRCA测试合格标准不同，一些指南限制较少;美国国家综合癌症网络(NCCN)BC指南规定,符合单药治疗条件的HER2阴性BC患者符合gBRCA检测条件.如果治疗选择会影响生存率，则建议在荷兰进行快速BRCA测试。但在英国仅作为临床试验的一部分。最新的欧洲（欧洲肿瘤学院-欧洲医学肿瘤学会2017年青年女性乳腺癌国际共识指南，德国ArbeitsgemeinschaftGynäkologischeOnkologoge2017）和美国（NCCN）指南更新了有关gBRCA靶向聚（ADP-核糖）聚合酶（PARP）抑制剂治疗的建议。
结论：区域和组织指南在遗传筛查方面有所不同，咨询,和BRCA突变BC患者的治疗。指南协调将优化这些患者的识别和管理。
