Genetic testing for a BRCA1 mutation:: Prophylactic surgery and screening behavior in women 2 years post testing
Genetic testing for a BRCA1 mutation:: Prophylactic surgery and screening behavior in women 2 years post testing
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DOI：
10.1002/ajmg.a.10102
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发表时间：
2003-04-30
影响因子：
2
通讯作者：
Lyon, E
中科院分区：
文献类型：
--
作者：
Botkin, JR;Smith, KR;Lyon, E
BRCA 1基因突变与携带者女性患乳腺癌和卵巢癌的风险增加有关。了解突变携带者和非携带者对BRCA 1突变检测的行为反应对于指导这项新技术的临床应用非常重要。这项研究检查了高危人群中BRCA 1突变基因检测的利用情况，以及接受检测的妇女对早期癌症检测和预防干预措施的反应。这项研究评估了利用基因检测的男性和女性在一个大的家族和行为反应的女性在使用医疗保健干预措施在2年后的测试。参与者被提供BRCA 1突变检测。在基线（遗传咨询和检测前）、提供检测结果后1-2周、4-6个月、1年和2年，通过计算机辅助电话访谈评估与乳腺癌和卵巢癌相关的监测行为。比较突变携带者、非携带者和未知突变状态的个体，以确定检测结果的影响。报告了男性和女性基因检测的使用情况，并对女性进行了乳房X光检查、乳房自我检查、临床乳房检查、乳房切除术、卵巢切除术、经阴道超声和CA 125筛查。在完全了解检测机会的人中，55%的妇女和52%的男子进行了基因检测。关于40岁及以上妇女的乳房X光检查，82%的突变携带者在检测后每年接受乳房X光检查，而非携带者妇女在第一年和第二年分别为72%和67%。这种乳腺X线摄影的使用率代表了突变携带者和非携带者的基线水平的显著增加。年轻的携带者妇女也显着增加了他们的乳房X光检查的利用率从基线。总体而言，29%的携带者妇女在检测后2年内没有获得一次乳房X光检查。在2年时，83%的携带者妇女和74%的非携带者报告遵守乳房自我检查的建议，超过80%的携带者妇女在测试后每年接受临床乳房检查。在检测后2年内，没有携带者接受预防性乳房切除术，尽管有11%的人正在考虑这种手术。在检测时至少有一个完整卵巢的25岁及以上携带者女性中，46%的携带者在检测后2年接受了卵巢切除术，其中包括78%的40岁及以上女性。大多数携带者（73%）曾与医生或医疗保健提供者讨论过他们的基因检测结果。我们的研究结果表明，大多数接受过基因检测信息的高危人群都使用了基因检测。携带者和非携带者在检测后都增加了对乳房X光检查和乳房自我检查的利用。卵巢切除术是由一个很大的比例载体妇女相比，乳房切除术，这是不使用的前2年内测试后。(C)2003 Wiley-Liss，Inc.
Mutations in the BRCA1 gene are associated with an increased risk of breast and ovarian cancer in carrier women. An understanding of behavioral responses to BRCA1 mutation testing by mutation carriers and non-carriers is important to guide the clinical application of this new technology. This study examined the utilization of genetic testing for a BRCA1 mutation in high-risk individuals and the response of tested women with respect to interventions for early cancer detection and prevention. This study assessed the utilization of genetic testing for both men and women in a large kindred and the behavioral responses by women with respect to use of health care interventions during the 2 years following testing. Participants were offered BRCA1 mutation testing. Surveillance behaviors related to breast and ovarian cancer were assessed by computer-assisted telephone interviews at baseline (prior to genetic counseling and testing), 1-2 weeks, 4-6 months, 1 and 2 years after the provision of test results. Mutation carriers, non-carriers, and individuals of unknown mutation status were compared to determine the impact of test results. Utilization of genetic testing for both men and women are reported and, for women, mammography, breast self-exam, clinical breast exam, mastectomy, oophorectomy, transvaginal ultrasound, and CA125 screening were assessed. Of those fully informed of the opportunity for testing, 55% of the women and 52% of the men pursued genetic testing. With respect to mammography for women 40 years and older, 82% of mutation carriers obtained a mammogram in each year following testing compared to 72% of non-carrier women the first year and 67% the second year. This mammography utilization represents a significant increase over baseline for both mutation carriers and non-carriers. Younger carrier women also significantly increased their mammography utilization from baseline. Overall, 29% of the carrier women did not obtain a single mammogram by 2 years post-testing. At 2 years, 83% of the carrier women and 74% of the non-carriers reported adherence to recommendations for breast self-exam and over 80% of carrier women had obtained a clinical breast examination each year following testing. None of the carrier women had obtained a prophylactic mastectomy by 2 years after testing, although 11% were considering this procedure. Of carrier women 25 years of age and older who had at least one intact ovary at the time of testing, 46% of carriers had obtained an oophorectomy 2 years after testing, including 78% of women 40 years of age and older. The majority of carrier women (73%) had discussed their genetic test results with a medical doctor or health care provider. Our results indicate utilization of genetic testing by a majority of high-risk individuals who received information about testing. Both carriers and non-carriers increased their utilization of mammography and breast self-exam following testing. Oophorectomy was obtained by a large proportion of carrier women in contrast to mastectomy which was not utilized within the first 2 years following testing. (C) 2003 Wiley-Liss, Inc.