Iglehart J D, Miron A, Rimer B K, Winer E P, Berry D, Shildkraut M J
Department of Surgery, Duke University, Durham, North Carolina, USA.
Ann Surg. 1998 Sep;228(3):375-84. doi: 10.1097/00000658-199809000-00010.
To find out how women with breast or ovarian cancer rate their chances of carrying hereditary factors for these cancers and to determine the extent to which they overestimate their risk.
BRCA1 and BRCA2 are genes that cause breast and ovarian cancer when they are inherited in families. Testing for disease-associated mutations in these genes is now available commercially. Previous studies have shown that women overestimate their chances of carrying mutations. However, women's perceptions of risk have not been compared to objective estimates or to actual BRCA1 and BRCA2 testing results.
This study examines estimates of carrying BRCA1 and BRCA2 mutations among women participating in a randomized trial comparing alternative precounseling educational materials. Estimates were provided by participants in a baseline mailed survey. Estimates given by participants were compared to those given by an expert panel and by a statistical model. Testing was offered free of charge and was done in an academic laboratory using standard techniques. Baseline estimates of participating women were compared to the estimates of the expert panel, to the carrier probability provided by the statistical model, and to actual testing results.
Women who have a personal history of breast or ovarian cancer significantly overestimate their risk of carrying hereditary factors for breast and ovarian cancer. Self-estimates exceeded the estimates of experts and a statistical model. One hundred women completed testing, and 21 mutations in BRCA1 or BRCA2 were found. Many test-negative women also overestimated their hereditary risk. Some women with a high carrier probability were negative for BRCA1 and BRCA2 mutations.
Overestimation of hereditary factors is common among affected women with a family history of cancer. Pretest education and counseling should reduce these high-risk perceptions. Better estimates of carrier probability will direct more intensive clinical services and research.
了解患有乳腺癌或卵巢癌的女性如何评估自身携带这些癌症遗传因素的可能性，并确定她们高估自身风险的程度。
BRCA1和BRCA2是在家族中遗传时会引发乳腺癌和卵巢癌的基因。目前市面上已有针对这些基因中与疾病相关突变的检测。先前的研究表明，女性高估了自身携带突变的可能性。然而，女性对风险的认知尚未与客观估计或实际的BRCA1和BRCA2检测结果进行比较。
本研究调查了参与一项比较不同咨询前教育材料的随机试验的女性对携带BRCA1和BRCA2突变可能性的评估。评估由基线邮寄调查中的参与者提供。将参与者给出的评估与专家小组和统计模型给出的评估进行比较。检测免费提供，并在学术实验室使用标准技术进行。将参与研究的女性的基线评估与专家小组的评估、统计模型提供的携带概率以及实际检测结果进行比较。
有乳腺癌或卵巢癌个人病史的女性显著高估了自身携带乳腺癌和卵巢癌遗传因素的风险。自我评估超过了专家和统计模型的评估。一百名女性完成了检测，发现了21个BRCA1或BRCA2突变。许多检测结果为阴性的女性也高估了她们的遗传风险。一些携带概率高的女性BRCA1和BRCA2突变检测结果为阴性。
在有癌症家族史的患病女性中，高估遗传因素的情况很常见。检测前的教育和咨询应降低这些高风险认知。对携带概率的更准确估计将指导更深入的临床服务和研究。
