Leblond Débora, Brédart Anne, Dolbeault Sylvie, De Pauw Antoine, Stoppa Lyonnet Dominique, Flahault Cécile, Sultan Serge
Institut Curie, unité de psycho-oncologie, département interdisciplinaire de soins de support pour le patient en oncologie, Paris, France.
Bull Cancer. 2011 Feb;98(2):184-98. doi: 10.1684/bdc.2011.1309.
Recent advances in oncogenetics have enabled the development of tests for predisposition to breast and ovarian cancers. Where no mutation has been identified in the BRCA1 or 2 genes, the proband (first person tested in a family with a genetic risk) can receive an uncertain outcome: negative inconclusive or identification of a variant of unknown clinical significance. From the demonstration of such outcomes, their psychological impact has been studied among women concerned.
The purpose of this article is to summarize the results of studies about the impact of delivering an uncertain BRCA1/2 genetic result on emotional (general or cancer specific distress), cognitive (perception of risk) and behavioral (decisions of medical care) reactions of consultants. It is also to identify factors particularly associated with personal or familial medical history that may alter this impact.
A literature review was conducted from a key word search on the databases PsycINFO and PubMed (breast*, BRCA*, genetic*, familial, mutation, heredit*) crossed with terms related to the psychological impact and mutation status. Included papers are quantitative studies focused on the psychological impact of the uncertain genetic test result, compared to the impact resulting from positive or true negative result, or from test refusal.
The results of the eight selected articles generally suggest a less emotional distress and a lower perceived risk of predisposition or to develop cancer facing uncertain genetic result compared to positive result. Intentions of breast cancer surveillance are optimal, indicating the absence of "false reassurance", while demand for prophylactic surgery appears to be less frequent. Nevertheless risk factors of inappropriate psychological reactions may be highlighted as pretest clinical distress, a personal cancer history or multiple family history of cancer.
Current data suggest psychological reactions adapted to the clinical significance of uncertain genetic test results. These findings are preliminary given the small number of studies and their restriction to populations with similar sociocultural characteristics.
肿瘤遗传学的最新进展推动了乳腺癌和卵巢癌易感性检测方法的发展。当在BRCA1或2基因中未发现突变时，先证者（家族中首个接受基因风险检测的人）可能会得到不确定的结果：阴性但无法定论，或者鉴定出临床意义不明的变异。从这类结果出现以来，已针对相关女性群体研究了其心理影响。
本文旨在总结有关BRCA1/2基因检测结果不确定对咨询者情绪（一般或癌症特异性困扰）、认知（风险认知）和行为（医疗护理决策）反应影响的研究结果。同时还要确定与个人或家族病史特别相关且可能改变这种影响的因素。
通过在PsycINFO和PubMed数据库中进行关键词搜索（乳腺癌*、BRCA*、基因*、家族性、突变、遗传性*），并与心理影响和突变状态相关术语交叉检索，开展文献综述。纳入的论文为定量研究，重点关注基因检测结果不确定的心理影响，并与阳性或真阴性结果或检测拒绝所产生的影响进行比较。
八篇入选文章的结果总体表明，与阳性结果相比，面对基因检测结果不确定时，情绪困扰较少，对易患癌症或患癌风险的认知较低。乳腺癌监测的意愿处于最佳状态，表明不存在“虚假安慰”，而预防性手术的需求似乎较少。然而，可能会突显一些不适当心理反应的风险因素，如检测前的临床困扰、个人癌症病史或家族癌症病史较多。
目前的数据表明，心理反应与基因检测结果不确定的临床意义相适应。鉴于研究数量较少且仅限于具有相似社会文化特征的人群，这些发现具有初步性。
