Cypowyj C, Eisinger F, Huiart L, Sobol H, Morin M, Julian-Reynier C
Inserm, U912, Economic and Social Sciences, Health Systems and Societies, Marseille, France.
Psychooncology. 2009 Feb;18(2):209-15. doi: 10.1002/pon.1407.
BRCA1/2 gene mutations are not frequently identified in breast or ovarian cancer patients who are the first members of their family to be tested. Little is known about how probands interpret and cope with these results, which are generally referred to as 'inconclusive'. The aim of this study was to describe subjective understanding by women with cancer in response to an inconclusive BRCA1/2 test, describing the difficulties or non-difficulties they encountered about the transmission of information to their family.
A cohort of 30 women with breast/ovarian cancer were followed for a period of up to 2 years after delivery of their inconclusive genetic test results. Self-administered questionnaires with closed and open questions were distributed. A qualitative analysis of open-ended questions is presented here.
These women's reactions to inconclusive results were of three kinds. The majority (n=14) were still uncertain about their carrier status, which is an adequate medical interpretation of the results, while others (n=9) took their inconclusive results to mean that they were definitely not carriers, and the women in the last group (n=7) were convinced that they were actually carriers. There was some overlap between these perceptions and actual genetic risk.
The transmission of information to the family was found to differ qualitatively across the three groups and more difficulties in this respect were expressed by those who were uncertain about their carrier status.
在家族中首个接受检测的乳腺癌或卵巢癌患者中，BRCA1/2基因突变并不常见。对于先证者如何解读和应对这些通常被称为“不确定”的结果，人们知之甚少。本研究的目的是描述癌症女性对BRCA1/2检测结果不确定的主观理解，描述她们在向家人传递信息时遇到的困难或没有遇到的困难。
对30名患有乳腺癌/卵巢癌的女性进行队列研究，在她们收到不确定的基因检测结果后的2年时间里进行随访。发放了包含封闭式和开放式问题的自填问卷。此处呈现对开放式问题的定性分析。
这些女性对不确定结果的反应有三种类型。大多数（n = 14）人对自己是否为携带者的状态仍不确定，这是对结果的一种合理医学解读，而其他人（n = 9）认为不确定结果意味着她们肯定不是携带者，最后一组女性（n = 7）坚信自己实际上是携带者。这些认知与实际遗传风险之间存在一些重叠。
发现向家人传递信息在三组之间存在质的差异，那些对自己携带者状态不确定的人在这方面表达了更多困难。
