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BRCA 突变家族对预防性手术的态度及遗传咨询的效果。奥地利遗传性乳腺癌和卵巢癌研究小组。

Attitude towards prophylactic surgery and effects of genetic counselling in families with BRCA mutations. Austrian Hereditary Breast and Ovarian Cancer Group.

作者信息

Wagner T M, Möslinger R, Langbauer G, Ahner R, Fleischmann E, Auterith A, Friedmann A, Helbich T, Zielinski C, Pittermann E, Seifert M, Oefner P

机构信息

Department of Obstetrics and Gynaecology, General Hospital, University of Vienna, Austria.

出版信息

Br J Cancer. 2000 Apr;82(7):1249-53. doi: 10.1054/bjoc.1999.1086.

DOI:10.1054/bjoc.1999.1086
PMID:10755396
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC2374490/
Abstract

The intent of this study was to evaluate the effect that an awareness of being a BRCA1 or BRCA2 mutation carrier has on the attitude towards prophylactic surgery and on developing depression symptoms. Thirty-five families were selected on the basis of previously detected BRCA1 or 2 mutations and 90 family members were given the appropriate questionnaires. Prophylactic mastectomy (PM) was considered by 21% of the Austrian mutation carriers (29% affected and 8% non-affected carriers). The majority of affected and non-affected carriers expected PM to impair the quality of their life. Fifty per cent would undergo prophylactic oophorectomy (53% affected and 46% non-affected carriers). The self-rating depression scale indicated that following mutation result disclosure the depression scores of carriers decreased (40 baseline vs 38 after result disclosure, P = 0.3), whereas, for non-carriers, scores increased (36 baseline vs 40 after result disclosure, P = 0.05). We conclude that information about carrier status is not associated with increased depression symptoms in mutation carriers. In non-carriers, depression scores increased slightly, probably reflecting survivor guilt. The option of having PM was associated with a negative impact on the quality of life and was declined by the majority of Austrian mutation carriers.

摘要

本研究旨在评估知晓自己为BRCA1或BRCA2突变携带者这一情况对预防性手术态度及抑郁症状发展的影响。基于先前检测出的BRCA1或2突变,选取了35个家庭,并向90名家庭成员发放了合适的问卷。21%的奥地利突变携带者考虑进行预防性乳房切除术(PM)(29%的患病携带者和8%的未患病携带者)。大多数患病和未患病携带者预计PM会损害其生活质量。50%的人会接受预防性卵巢切除术(53%的患病携带者和46%的未患病携带者)。自评抑郁量表显示,在突变结果披露后,携带者的抑郁得分下降(基线时为40分,结果披露后为38分,P = 0.3),而对于非携带者,得分上升(基线时为36分,结果披露后为40分,P = 0.05)。我们得出结论,关于携带者状态的信息与突变携带者抑郁症状增加无关。在非携带者中,抑郁得分略有上升,可能反映了幸存者内疚感。选择进行PM对生活质量有负面影响,大多数奥地利突变携带者拒绝了这一选择。

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