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接受BRCA1/2基因突变检测的意大利男性:6个月随访期间的心理困扰

Italian Men Tested for BRCA1/2 Mutation: Psychological Distress during 6-Month Follow-Up.

作者信息

Pellini F, Mirandola S, Granuzzo E, Urbani S, Piccinni Leopardi G, Pollini G P

机构信息

Oncologic Surgery Department, Complex Operative Unit of Breast Surgery-Breast Unit AOUI, Verona, Italy.

出版信息

J Oncol. 2020 Jan 31;2020:3987935. doi: 10.1155/2020/3987935. eCollection 2020.

Abstract

UNLABELLED

. Male breast cancer (MBC) is a rare disease, whose main risk factor is genetic vulnerability. Despite care of men with MBC is modeled on care of women, men's experiences with the disease and concerns related to the status of genetic mutation carrier are unique. So far, little is known concerning the psychological impact in BRCA1/2 testing, especially with regard to specific subset of individuals, such as male subjects and the elderly.

METHODS

We assessed self-reported anxiety and depression levels in 26 male subjects presenting at Unit of Breast Surgery in Breast Unit of AOUI Verona (MBC patients,  = 7; high-risk unaffected subjects,  = 7; high-risk unaffected subjects.

RESULTS

Among the 17 unaffected men tested, 7 (41%) received a positive test (either BRCA1 or BRCA2 pathogenic variant) and 10 (59%) a negative test. Of the 9 MBC patients tested, only one subject received a positive test result. No significant differences were observed in mean scores, mean change from baseline to follow-up, either for those with + or T- test results. . Genetic testing for BRCA1/2 mutation was not associated in our sample with increased level of psychological distress as measured with HADS in a short-term evaluation.

摘要

未标注

男性乳腺癌(MBC)是一种罕见疾病,其主要风险因素是基因易感性。尽管对男性乳腺癌患者的护理是仿照对女性患者的护理模式,但男性患者对该疾病的体验以及与基因突变携带者身份相关的担忧是独特的。到目前为止,关于BRCA1/2检测的心理影响,尤其是针对特定个体亚组,如男性受试者和老年人,了解甚少。

方法

我们评估了在维罗纳AOUI乳腺科乳腺外科就诊的26名男性受试者自我报告的焦虑和抑郁水平(MBC患者,n = 7;高危未患病受试者,n = 7;高危未患病受试者)。

结果

在接受检测的17名未患病男性中,7名(41%)检测结果为阳性(BRCA1或BRCA2致病变异),10名(59%)检测结果为阴性。在接受检测的9名MBC患者中,只有一名受试者检测结果为阳性。无论是检测结果为阳性还是阴性的受试者,在平均得分、从基线到随访的平均变化方面均未观察到显著差异。在短期评估中,我们样本中的BRCA1/2基因突变检测与用医院焦虑抑郁量表(HADS)测量的心理困扰水平升高无关。

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