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首页> 外文期刊>Nature reviews. Urology >The genetic epidemiology of prostate cancer and its clinical implications
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The genetic epidemiology of prostate cancer and its clinical implications

机译：前列腺癌的遗传流行病学及其临床意义

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Worldwide, familial and epidemiological studies have generated considerable evidence of an inherited component to prostate cancer. Indeed, rare highly penetrant genetic mutations have been implicated. Genome-wide association studies (GWAS) have also identified 76 susceptibility loci associated with prostate cancer risk, which occur commonly but are of low penetrance. However, these mutations interact multiplicatively, which can result in substantially increased risk. Currently, approximately 30% of the familial risk is due to such variants. Evaluating the functional aspects of these variants would contribute to our understanding of prostate cancer aetiology and would enable population risk stratification for screening. Furthermore, understanding the genetic risks of prostate cancer might inform predictions of treatment responses and toxicities, with the goal of personalized therapy. However, risk modelling and clinical translational research are needed before we can translate risk profiles generated from these variants into use in the clinical setting for targeted screening and treatment.
机译：在世界范围内，家族和流行病学研究已经产生了有关前列腺癌遗传成分的大量证据。确实，已经暗示了罕见的高度渗透性的基因突变。全基因组关联研究（GWAS）还确定了与前列腺癌风险相关的76个易感基因座，它们通常发生但渗透率较低。但是，这些突变会发生倍增相互作用，从而导致风险大大增加。目前，约有30％的家族风险是由这些变异引起的。评估这些变异的功能方面将有助于我们对前列腺癌病因学的理解，并使人群风险分层得以筛查。此外，以个性化治疗为目标，了解前列腺癌的遗传风险可能有助于预测治疗反应和毒性。但是，在将这些变异产生的风险概况转化为可用于靶向筛查和治疗的临床环境之前，需要进行风险建模和临床转化研究。

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