Kelly Kimberly, Leventhal Howard, Marvin Monica, Toppmeyer Deborah, Much Judith, Dermody James, Baran Jill, Schwalb Marvin
Human Cancer Genetics Program, Ohio State University, Columbus, OH 43221, USA.
Genet Test. 2004 Summer;8(2):139-47. doi: 10.1089/gte.2004.8.139.
The aims of the study were to (1) examine the differences between subjective and objective estimates of the risk of breast cancer in those being tested for BRCA1/2 mutations, (2) explore new ways to conceptualize risk, and (3) examine the change in subjective risk of developing breast cancer throughout the process of genetic counseling and testing. Participants were 86 Ashkenazi Jewish women with a family or personal history indicating risk for BRCA1/2 mutations. Surveys to assess subjective risk of breast cancer (percentage risk, projected age of onset, and survival time) were administered before counseling, after counseling, and after receipt of test results. Subjective percentage risk of breast cancer was compared to estimated objective risk to determine accuracy. Those with no personal history of cancer receiving positive results became more accurate from post-counseling to post-result. Those receiving positive results increased their estimate of their percentage risk, and those receiving uninformative negative results decreased their estimate of their percentage risk from post-counseling to post-result. Those without a personal history of cancer decreased in perceived risk from post-counseling to post-result. No change in projected age of onset of breast cancer or survival time with breast cancer was seen from pre- to post-counseling or from post-counseling to post-result, and no change in accuracy or in percentage risk of breast cancer was seen from pre- to post-counseling. Individuals use information from genetic counseling to form estimates of percentage risk following receipt of test results; however, projected age of onset and survival time with breast cancer, areas not targeted by genetic counseling that may be more closely linked to health behavior, do not change.
（1）检查在接受BRCA1/2突变检测的人群中，乳腺癌风险主观估计与客观估计之间的差异；（2）探索概念化风险的新方法；（3）检查在整个遗传咨询和检测过程中，患乳腺癌主观风险的变化。研究对象为86名有家族或个人病史表明存在BRCA1/2突变风险的阿什肯纳兹犹太女性。在咨询前、咨询后以及收到检测结果后，进行了评估乳腺癌主观风险（风险百分比、预计发病年龄和生存时间）的调查。将乳腺癌主观风险百分比与估计的客观风险进行比较，以确定准确性。没有个人癌症病史且检测结果为阳性的人，从咨询后到收到结果后，其估计变得更加准确。检测结果为阳性的人提高了对自身风险百分比的估计，而检测结果为无信息的阴性的人从咨询后到收到结果后降低了对自身风险百分比的估计。没有个人癌症病史的人从咨询后到收到结果后，感知到的风险降低。从咨询前到咨询后，以及从咨询后到收到结果后，未观察到乳腺癌预计发病年龄或乳腺癌生存时间的变化，从咨询前到咨询后，也未观察到乳腺癌准确性或风险百分比的变化。个体在收到检测结果后，利用遗传咨询中的信息来形成对风险百分比的估计；然而，乳腺癌预计发病年龄和生存时间，这些并非遗传咨询所针对的、可能与健康行为联系更紧密的方面，并未改变。
