Communication of BRCA1 and BRCA2 results to at-risk Relatives:: A cancer risk assessment program's experience
Communication of BRCA1 and BRCA2 results to at-risk Relatives:: A cancer risk assessment program's experience
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DOI：
10.1002/ajmg.c.10003
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发表时间：
2003-05-15
影响因子：
3.1
通讯作者：
Daly, MB
中科院分区：
文献类型：
--
作者：
Costalas, JW;Itzen, M;Daly, MB
我们描述了一项调查的结果，该调查旨在评估个人收到 BRCA1 和 BRCA2 突变携带者状态结果后不久的家庭内沟通模式。 BRCA1 和 BRCA2 基因检测结果披露后不久，我们通过电话联系先证者以进行披露后调查。询问的问题包括他们是否与兄弟姐妹或成年子女分享了结果，沟通测试结果是否有困难，以及分享结果是否有任何痛苦。共有 162 名获得 BRCA1 和 BRCA2 基因检测结果的女性参与了这项调查，先证者与女性亲属分享结果的频率高于男性亲属 (P < 0.001)。 BRCA1 或 BRCA2 基因突变检测呈阳性的先证者比非携带者先证者更频繁地与亲属分享结果 (P = 0.002)。先证者更常报告说，他们的兄弟姐妹而不是成年子女难以理解结果（P = 0.001）。携带者的先证者更常报告难以向其亲属解释他们的结果（P < 0.001），并且与非携带者的先证者亲属相比，他们的亲属在听到结果时更容易感到不安（P < 0.001）。携带者先证者比非携带者先证者更频繁地报告说，他们在向亲属解释结果时感到不安（P < 0.001）。人们正在向亲属透露他们的测试结果。 BRCA1 或 BRCA2 阳性的先证者更有可能在向家人传达测试结果时遇到困难和痛苦。 (C) 2003 Wiley-Liss, Inc.
We describe results from a survey designed to assess patterns of communication within families shortly after an individual receives results of BRCA1 and BRCA2 mutation carrier status. Shortly after disclosure of BRCA1 and BRCA2 genetic test results, the proband was contacted by phone to administer the post disclosure survey. Questions asked included whether they had shared their results with their siblings or adult children, if there were difficulties in communicating the test results, and if there was any distress associated with the sharing of results. A total of 162 women who have received results from BRCA1 and BRCA2 genetic testing participated in the survey, The probands shared their results more often with their female than their male relatives (P < 0.001). Probands who had tested positive for a mutation in the BRCA1 or BRCA2 gene shared their results more often with their relatives than did probands who were not carriers (P = 0.002). Probands reported more often that their siblings rather than their adult children had difficulties understanding the results (P = 0.001). The probands who were carriers more often reported having difficulties explaining their results to their relatives (P < 0.001) and their relatives were upset on hearing the result more often than were the relatives of probands who were not carriers (P < 0.001). The probands who were carriers reported more often that they were upset explaining their results to their relatives than did the probands who were not carriers (P < 0.001). Individuals are disclosing their test results to their relatives. Probands who are BRCA1- or BRCA2-positive are more likely to experience difficulty and distress with the communication of their test results to family members. (C) 2003 Wiley-Liss, Inc.