McInerney-Leo Aideen, Hadley Donald, Kase Ronald G, Giambarresi Therese R, Struewing Jeffery P, Biesecker Barbara Bowles
Genetic Disease Research Branch, NHGRI, Bethesda, Maryland 20892-0249, USA.
Am J Med Genet A. 2006 Oct 15;140(20):2198-206. doi: 10.1002/ajmg.a.31432.
This study aimed to ascertain whether cancer risk perception changed following the offer and subsequent receipt of BRCA1/2 results and to evaluate breast and ovarian screening practices in testers and non-testers. Members of thirteen HBOC families were offered BRCA1/2 testing for a known family mutation. Perceived risk for developing breast cancer, ovarian cancer or for carrying the familial BRCA1/2 mutation, was assessed at baseline and again at 6-9 months following the receipt of test results. Breast and ovarian cancer screening data were obtained at both time-points. A total of 138 women participated and 120 (87%) chose to be tested for a known familial mutation. Twenty-eight women (24%) were identified as carriers and their perceived ovarian cancer risk and their perception of being a mutation carrier increased (P = 0.01 for both). Those testing negatives had a significant decrease in all dimensions of risk perception (P < 0.01). Regression analysis showed test results to be strong predictors of follow-up risk perception (P = 0.001), however, they were not predictors of screening practices at follow-up. Testers were more likely to have completed a clinical breast exam following testing than decliners. Mammography was positively associated with baseline adherence, age, and intrusive thoughts. Ovarian cancer worries only predicted pelvic ultrasound screening post-testing. Baseline practices and psychological factors appear to be stronger predictors of health behavior than test results.
本研究旨在确定在提供并随后收到BRCA1/2检测结果后，癌症风险认知是否发生变化，并评估检测者和未检测者的乳腺和卵巢筛查行为。为13个遗传性乳腺癌和卵巢癌（HBOC）家族的成员提供针对已知家族突变的BRCA1/2检测。在基线时以及收到检测结果后的6 - 9个月再次评估患乳腺癌、卵巢癌或携带家族性BRCA1/2突变的感知风险。在两个时间点都获取了乳腺癌和卵巢癌筛查数据。共有138名女性参与，其中120名（87%）选择针对已知家族突变进行检测。28名女性（24%）被确定为携带者，她们对卵巢癌的感知风险以及对自己是突变携带者的认知有所增加（两者P值均为0.01）。检测结果为阴性的人在风险认知的所有维度上都有显著下降（P < 0.01）。回归分析表明检测结果是后续风险认知的有力预测因素（P = 0.001），然而，它们不是后续筛查行为的预测因素。与拒绝检测者相比，检测者在检测后更有可能完成临床乳腺检查。乳房X光检查与基线依从性、年龄和侵入性思维呈正相关。只有对卵巢癌的担忧预测了检测后的盆腔超声筛查。基线行为和心理因素似乎比检测结果更能有力地预测健康行为。
