Impact of BRCA1/BRCA2 counseling and testing on newly diagnosed breast cancer patients
Impact of BRCA1/BRCA2 counseling and testing on newly diagnosed breast cancer patients
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DOI：
10.1200/jco.2004.04.086
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发表时间：
2004-05-15
影响因子：
45.3
通讯作者：
Isaacs, C
中科院分区：
文献类型：
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作者：
Schwartz, MD;Lerman, C;Isaacs, C
目的大约5%到10%的新诊断乳腺癌患者携带BRCA1或BRCA2突变。鉴于这些患者患对侧乳腺癌的风险很高，双侧乳房切除术越来越被认为是新诊断的BRCA1/2携带者的一种治疗选择。在这项研究中，我们前瞻性地评估了乳腺癌高危患者接受基因治疗前的遗传咨询和BRCA1/BRCA2检测对手术决策的影响。患者和方法研究对象为194名新诊断的乳腺癌患者，他们尚未接受明确的手术治疗，且至少有10%的BRCA1/2突变先天概率。参与者被提供了免费的遗传咨询和快速的BRCA1/2测试。初步分析集中在BRCA1/2检测结果对后续乳腺癌手术治疗的影响。结果在被发现携带BRCA1/2突变的患者中，48%的患者选择双侧乳房切除术作为最终的乳腺癌手术。相比之下，在没有检测到突变的患者中，24%的患者和4%的测试下降的患者选择了双侧乳腺切除术。双侧乳房切除术的其他预测因素包括患者对BRCA1/2测试的医生建议的自我报告和双侧乳房切除术。结论本研究突出了患者对向高危患者提供术前BRCA1/2测试的兴趣和技术可行性。最重要的是，这些结果表明BRCA1/2测试结果显著影响患者的手术决策。遗传咨询和检测的可用性可以为新诊断的乳腺癌患者提供有价值的决策帮助，这些患者是携带突变的高危人群。(C)2004年，由美国临床肿瘤学会提供。
PurposeApproximately 5% to 10% of newly diagnosed breast cancer patients carry a BRCA1 or BRCA2 mutation. Given these patients' high risk for contralateral breast cancer, bilateral mastectomy is increasingly considered a treatment option for newly diagnosed BRCA1/2 carriers. In the present study, we prospectively evaluated the impact on surgical decision-making of pretreatment genetic counseling and BRCA1/BRCA2 testing among breast cancer patients at high-risk for carrying a mutation.Patients and MethodsParticipants were 194 newly diagnosed breast cancer patients who had not yet received definitive surgical treatment and who had at least a 10% prior probability of carrying a BRCA1/2 mutation. Participants were offered free genetic counseling and rapid BRCA1/2 testing. Primary analyses focused on the impact of BRCA1/2 test result on subsequent breast cancer surgical treatment.ResultsForty-eight percent of patients who were found to carry a BRCA1/2 mutation chose bilateral mastectomy as their definitive breast cancer surgery. In contrast, 24% of patients in whom no mutation was detected and 4% of test decliners opted for bilateral mastectomy. Additional predictors of bilateral mastectomy included patients' self-reports of physician recommendations for BRCA1/2 testing and bilateral mastectomy.ConclusionThis study highlights patient interest in and the technical feasibility of offering presurgery BRCA1/2 testing to high-risk patients. Most importantly, these results demonstrate that BRCA1/2 test results significantly affect patients' surgical decision-making. The availability of genetic counseling and testing could serve as a valuable aid to patient decision-making for newly diagnosed breast cancer patients at high-risk for carrying a mutation. (C) 2004 by American Society of Clinical Oncology.