Effect of genetic cancer risk assessment on surgical decisions at breast cancer diagnosis
Effect of genetic cancer risk assessment on surgical decisions at breast cancer diagnosis
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DOI：
10.1001/archsurg.138.12.1323
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发表时间：
2003-12-01
影响因子：
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通讯作者：
Cullinane, CA
中科院分区：
文献类型：
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作者：
Weitzel, JN;McCaffrey, SM;Cullinane, CA
假设：乳腺癌基因 (BRCA) 突变状态在乳腺癌诊断时、明确治疗之前进行遗传性癌症风险评估时，会影响患者的手术决策。患者和干预措施：针对新诊断患有乳腺癌的女性，研究遗传性癌症风险评估后的结果，这些女性在为期 1 年的抽样框架内前瞻性地纳入机构审查委员会批准的遗传性癌症登记处。向计算突变概率为 10% 或更高的受试者提供 BRCA 基因分析。医疗记录审查和电话调查用于记录遗传性癌症风险评估后的手术治疗决定。结果：登记中的 233 名女性中有 37 名在乳腺癌诊断时入组。从诊断到遗传性癌症风险评估的间隔时间为3至60天。整个队列中 BRCA 基因突变的平均计算概率为 21%。两名女性由于突变检测的先验概率较低而没有接受测试，另外 3 名女性由于并发的心理压力因素而拒绝接受测试。其余32名患者中，22名（69%）未检测到BRCA基因突变，3名（9%）被发现携带意义不明的变异，7名（22%）携带有害突变。所有 7 名携带有害突变的受试者都选择了双侧乳房切除术，而 22 名检测结果呈阴性的患者中有 20 名选择了适合阶段的治疗（P
Hypothesis: Breast cancer gene (BRCA) mutation status affects patients' surgical decisions when genetic cancer risk assessment is offered at the time of breast cancer diagnosis, prior to definitive treatment.Patients and Interventions: Outcomes following genetic cancer risk assessment were studied for women newly diagnosed as having breast cancer who were prospectively enrolled in an institutional review board-approved hereditary cancer registry during a 1-year sampling frame. BRCA gene analysis was offered to subjects with a calculated mutation probability of 10% or higher. Review of medical records and telephone survey were used to document surgical treatment decisions following genetic cancer risk assessment.Results: Thirty-seven of 233 women in the registry were enrolled at the time of a breast cancer diagnosis. The interval from diagnosis to genetic cancer risk assessment ranged from 3 to 60 days. The mean calculated probability of a BRCA gene mutation was 21% across the cohort. Two women were not tested because of low prior probabilities of mutation detection, and 3 declined owing to intercurrent psychological stressors. Of the remaining 32 patients, no BRCA gene mutation was detected in 22 (69%), 3 (9%) were found to carry a variant of uncertain significance, and 7 (22%) had a deleterious mutation. All 7 subjects with a deleterious mutation opted for bilateral mastectomy, whereas 20 of 22 patients with negative test results chose stage-appropriate treatment (P