PDF(Pubmed)
Abstract：
OBJECTIVE: This study focused on identifying a hereditary predisposition in women previously diagnosed with early-onset breast cancer through a retrospective outreach activity (Traceback). The objectives were to evaluate the possible clinical implementation of a simplified Traceback strategy and to identify carriers of pathogenic variants among previously untested women.
METHODS: Three hundred and fifteen Traceback-eligible women diagnosed with breast cancer at 36-40 years in Southern Sweden between 2000 and 2019 were identified and offered an analysis of the genes ATM, BARD1, BRCA1, BRCA2, CHEK2, PALB2, RAD51C, and RAD51D through a standardized letter. Women who chose to participate were asked about their experiences through a questionnaire. The workload for the study personnel was measured and recorded.
RESULTS: One hundred and seventy-six women underwent genetic testing and pathogenic variants were identified in 9.7%: ATM (n = 6), BARD1 (n = 1), BRCA1 (n = 3), CHEK2 (n = 5), and PALB2 (n = 2). Women with normal test results were informed through a standardized letter. Carriers of pathogenic variants were contacted by telephone and offered in-person genetic counseling. One hundred and thirty-four women returned the subsequent questionnaire. Most study participants were satisfied with both written pre- and post-test information and many expressed their gratitude. The extra workload as compared to routine clinical genetic counseling was modest (8 min per patient).
CONCLUSIONS: The insights from the participants\' perspectives and sentiments throughout the process support the notion that the Traceback procedure is a safe and an appreciated complement to routine genetic counseling. The genetic yield of almost 10% also suggests that the associated extra workload for genetic counselors could be viewed as acceptable in clinical implementation scenarios.
METHODS: Three hundred and fifteen Traceback-eligible women diagnosed with breast cancer at 36-40 years in Southern Sweden between 2000 and 2019 were identified and offered an analysis of the genes ATM, BARD1, BRCA1, BRCA2, CHEK2, PALB2, RAD51C, and RAD51D through a standardized letter. Women who chose to participate were asked about their experiences through a questionnaire. The workload for the study personnel was measured and recorded.
RESULTS: One hundred and seventy-six women underwent genetic testing and pathogenic variants were identified in 9.7%: ATM (n = 6), BARD1 (n = 1), BRCA1 (n = 3), CHEK2 (n = 5), and PALB2 (n = 2). Women with normal test results were informed through a standardized letter. Carriers of pathogenic variants were contacted by telephone and offered in-person genetic counseling. One hundred and thirty-four women returned the subsequent questionnaire. Most study participants were satisfied with both written pre- and post-test information and many expressed their gratitude. The extra workload as compared to routine clinical genetic counseling was modest (8 min per patient).
CONCLUSIONS: The insights from the participants\' perspectives and sentiments throughout the process support the notion that the Traceback procedure is a safe and an appreciated complement to routine genetic counseling. The genetic yield of almost 10% also suggests that the associated extra workload for genetic counselors could be viewed as acceptable in clinical implementation scenarios.
摘要：
目的：这项研究的重点是通过回顾性外展活动（Traceback）确定先前诊断为早发性乳腺癌的女性的遗传易感性。目的是评估简化的回溯策略的可能临床实施，并在以前未经测试的女性中确定致病变异的携带者。
方法：确定了2000年至2019年间在瑞典南部36-40岁被诊断患有乳腺癌的115名符合追溯资格的女性，并对ATM基因进行了分析。BARD1,BRCA1,BRCA2,CHEK2,PALB2,RAD51C,和RAD51D通过一个标准化的字母。选择参加的妇女通过问卷被问及她们的经历。测量并记录研究人员的工作量。
结果：共有一百一十六位女性接受了基因检测，其中9.7％的女性被鉴定出致病变异：ATM（n=6），BARD1(n=1),BRCA1(n=3),CHEK2（n=5），和PALB2(n=2)。测试结果正常的妇女通过标准化的信件被告知。通过电话联系致病变种的携带者，并提供亲自遗传咨询。134名妇女返回了随后的问卷。大多数研究参与者对测试前和测试后的书面信息都感到满意，许多人对此表示感谢。与常规临床遗传咨询相比，额外的工作量适中（每位患者8分钟）。
结论：参与者在整个过程中的观点和观点支持这样的观点，即Traceback程序是常规遗传咨询的安全和值得赞赏的补充。近10％的遗传产量也表明，遗传咨询师的相关额外工作量在临床实施方案中可以被视为可接受的。
方法：确定了2000年至2019年间在瑞典南部36-40岁被诊断患有乳腺癌的115名符合追溯资格的女性，并对ATM基因进行了分析。BARD1,BRCA1,BRCA2,CHEK2,PALB2,RAD51C,和RAD51D通过一个标准化的字母。选择参加的妇女通过问卷被问及她们的经历。测量并记录研究人员的工作量。
结果：共有一百一十六位女性接受了基因检测，其中9.7％的女性被鉴定出致病变异：ATM（n=6），BARD1(n=1),BRCA1(n=3),CHEK2（n=5），和PALB2(n=2)。测试结果正常的妇女通过标准化的信件被告知。通过电话联系致病变种的携带者，并提供亲自遗传咨询。134名妇女返回了随后的问卷。大多数研究参与者对测试前和测试后的书面信息都感到满意，许多人对此表示感谢。与常规临床遗传咨询相比，额外的工作量适中（每位患者8分钟）。
结论：参与者在整个过程中的观点和观点支持这样的观点，即Traceback程序是常规遗传咨询的安全和值得赞赏的补充。近10％的遗传产量也表明，遗传咨询师的相关额外工作量在临床实施方案中可以被视为可接受的。
