van Oostrom Iris, Meijers-Heijboer Hanne, Lodder Litanja N, Duivenvoorden Hugo J, van Gool Arthur R, Seynaeve Caroline, van der Meer Conny A, Klijn Jan G M, van Geel Bert N, Burger Curt W, Wladimiroff Juriy W, Tibben Aad
Department of Clinical Genetics, Erasmus MC, Rotterdam, the Netherlands.
J Clin Oncol. 2003 Oct 15;21(20):3867-74. doi: 10.1200/JCO.2003.10.100.
To explore long-term psychosocial consequences of carrying a BRCA1/2 mutation and to identify possible risk factors for long-term psychological distress.
Five years after genetic test disclosure, 65 female participants (23 carriers, 42 noncarriers) of our psychological follow-up study completed a questionnaire and 51 participants were interviewed. We assessed general and hereditary cancer-related distress, risk perception, openness to discuss the test result with relatives, body image and sexual functioning.
Carriers did not differ from noncarriers on several distress measures and both groups showed a significant increase in anxiety and depression from 1 to 5 years follow-up. Carriers having undergone prophylactic surgery (21 of 23 carriers) had a less favorable body image than noncarriers and 70% reported changes in the sexual relationship. A major psychological benefit of prophylactic surgery was a reduction in the fear of developing cancer. Predictors of long-term distress were hereditary cancer-related distress at blood sampling, having young children, and having lost a relative to breast/ovarian cancer. Long-term distress was also associated with less open communication about the test result within the family, changes in relationships with relatives, doubting about the validity of the test result, and higher risk perception.
Our findings support the emerging consensus that genetic predisposition testing for BRCA1/2 does not pose major mental health risks, but our findings also show that the impact of prophylactic surgery on aspects such as body image and sexuality should not be underestimated, and that some women are at risk for high distress, and as a result, need more attentive care.
探讨携带BRCA1/2基因突变的长期心理社会后果，并确定长期心理困扰的可能风险因素。
在基因检测结果披露五年后，我们心理随访研究中的65名女性参与者（23名携带者，42名非携带者）完成了一份问卷，51名参与者接受了访谈。我们评估了一般和遗传性癌症相关的困扰、风险认知、与亲属讨论检测结果的开放性、身体形象和性功能。
在几项困扰指标上，携带者与非携带者没有差异，两组在随访1至5年期间焦虑和抑郁都显著增加。接受预防性手术的携带者（23名携带者中的21名）身体形象不如非携带者，70%的人报告性关系有变化。预防性手术的一个主要心理益处是降低患癌恐惧。长期困扰的预测因素包括采血时遗传性癌症相关的困扰、有年幼子女以及有亲属因乳腺癌/卵巢癌去世。长期困扰还与家庭内部对检测结果的沟通不那么开放、与亲属关系的变化、对检测结果有效性的怀疑以及更高的风险认知有关。
我们的研究结果支持了新出现的共识，即BRCA1/2基因易感性检测不会带来重大心理健康风险，但我们的研究结果也表明，预防性手术对身体形象和性行为等方面的影响不应被低估，而且一些女性有高困扰风险，因此需要更细心的护理。
