Liede A, Metcalfe K, Hanna D, Hoodfar E, Snyder C, Durham C, Lynch H T, Narod S A
Centre for Research in Women's Health, University of Toronto, Ontario, Canada.
Am J Hum Genet. 2000 Dec;67(6):1494-504. doi: 10.1086/316907. Epub 2000 Nov 3.
To date, the concerns of men at risk of inheriting a BRCA1 mutation or a BRCA2 mutation have received little attention. It had been anticipated that few men would be interested in predictive testing when a BRCA mutation was identified in their family. However, these men are often affected emotionally by diagnoses of breast cancer in their relatives and may themselves harbor fears that cancer will develop. Male carriers of BRCA1/2 mutations are at increased risk of development of cancers of several types, including those of the breast and prostate. We conducted an evaluation of the needs and experiences of 59 male carriers of BRCA1/2 mutations followed at either the University of Toronto or Creighton University. We assessed their motivations for seeking genetic counseling and testing, involvement in family discussions of breast and ovarian cancer, risk perception, changes in cancer-screening practices, and overall satisfaction with the genetic-counseling process. The principal motivation for seeking genetic counseling was concern for their daughters. The majority (88%) of men participated in family conversations about breast and ovarian cancer, and 47% participated in conversations about prophylactic surgery. Most men believed that they were at increased risk of development of cancer (prostate, breast, colorectal, and skin cancers). However, fewer than one-half (43%) of the men with no previous diagnosis of cancer stated that their prostate cancer-surveillance practices had changed after they had received genetic test results. More than one-half (55%) had intrusive thoughts about their cancer risk. Although levels of satisfaction were high, practitioners should be aware of (a) potential pressures influencing men to request predictive testing, (b) the difficulties that men encounter in establishing surveillance regimens for breast and prostate cancer, and (c) the general lack of information about men's particular experiences in the medical community.
迄今为止，有遗传BRCA1突变或BRCA2突变风险的男性所面临的问题几乎未受到关注。人们曾预计，当家族中发现BRCA突变时，很少有男性会对预测性检测感兴趣。然而，这些男性往往会因亲属被诊断出乳腺癌而受到情感上的影响，并且他们自己可能也担心会患癌症。携带BRCA1/2突变的男性患几种类型癌症的风险增加，包括乳腺癌和前列腺癌。我们对在多伦多大学或克里顿大学接受随访的59名携带BRCA1/2突变的男性的需求和经历进行了评估。我们评估了他们寻求遗传咨询和检测的动机、参与乳腺癌和卵巢癌家庭讨论的情况、风险认知、癌症筛查做法的变化以及对遗传咨询过程的总体满意度。寻求遗传咨询的主要动机是对女儿的担忧。大多数（88%）男性参与了关于乳腺癌和卵巢癌的家庭讨论，47%参与了关于预防性手术 的讨论。大多数男性认为他们患癌症（前列腺癌、乳腺癌、结直肠癌和皮肤癌）的风险增加。然而，在之前未被诊断出患有癌症的男性中，只有不到一半（43%）表示在收到基因检测结果后，他们的前列腺癌监测做法发生了改变。超过一半（55%）的人对自己的癌症风险有侵入性想法。尽管满意度较高，但从业者应意识到：（a）影响男性要求进行预测性检测的潜在压力；（b）男性在制定乳腺癌和前列腺癌监测方案时遇到的困难；（c）医学界普遍缺乏关于男性特殊经历的信息。
