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首页> 外文期刊>Annals of epidemiology >Faulty BRCA1 , BRCA2 genes: how poor is the prognosis?
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Faulty BRCA1 , BRCA2 genes: how poor is the prognosis?

机译：BRCA1，BRCA2基因有缺陷：预后多么差？

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Abstract We take a critical look at the meaning behind the number 87% given to 25-year-old Sophie, a BRCA1 and BRCA2 carrier. Sophie has been told she has an 87% chance of getting breast cancer. She is contemplating a preventive double mastectomy after genetic counseling and her physician's advice. Some 92% of British general practitioners are in favor of prophylactic mastectomy as a treatment option for women similar to Sophie. The treatment decision results, to a very large extent, from the size of the number (87%) alone. The central argument of this study is that physicians, their patients, and the public need a much better understanding on what is meant by probability estimates of 0.87. The figure on its own does not tell us much, and we need to be very cautious in its interpretation. It is important to know that the very same genetic and statistical models, and observed data, resulting in a verdict of an 87% lifetime chance of getting breast cancer, based on BRCA1 , BRCA2 , and familial information, simultaneously show Sophie to have a greater than 99% chance of surviving beyond the next 5?years cancer free. If she succeeds—the chances are overwhelmingly in her favor—then, given that fact, her chances of surviving a further 5?years are once again greater than 98%. Her chances of not dying due to breast cancer over the next 20 years are greater than 97%, a percentage that changes little if instead of 20 we write the number 30. In a word, although the diagnosis of a faulty BRAC gene may be a disappointment, there is no immediate peril and no need for undue alarm. Sophie, and her primary care providers, can carefully consider her options without feeling that they are under any kind of acute pressure. Whatever the threat, it is not an imminent one.
机译：摘要我们对25岁的索菲，BRCA1和BRCA2载体提供的87％背后的含义致敬。索菲被告知她有87％的机会获得乳腺癌。她正在考虑遗传咨询和医生的建议后预防性双重乳房切除术。大约92％的英国一般从业者都赞成预防性乳房切除术作为与索菲类似的女性的治疗选择。治疗决策结果，在很大程度上，从数量的大小（87％）单独。本研究的核心论点是，医生，患者和公众需要更好地了解概率估计值为0.87的意义。这是一个自己的数字并没有告诉我们很多，我们需要在其解释中非常谨慎。重要的是要知道，非常相同的遗传和统计模型，以及观察到的数据，导致判决基于BRCA1，BRCA2和家族信息的乳腺癌的87％的终身机会，同时显示索菲有更大的超过99％的几率超越未来5？岁月无癌症。如果她成功 - 在她的青睐中，机会绝对地掌握了这一事实，因为这一事实，她幸存下来5的机会又一年又一年超过98％。她在未来20年内由于乳腺癌而未达到的可能性大于97％，这是一个百分比，即如果不是20我们写下第30个。在一个词中，虽然错误的BRAC基因的诊断可能是一个失望，没有立即危险，无需过度警报。索菲和她的初级保健提供者可以仔细考虑她的选择，而不会感到他们在任何急性压力下。无论威胁是什么，它不是一个迫在眉睫的威胁。

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