Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden.
Acta Oncol. 2011 Jun;50 Suppl 1:18-23. doi: 10.3109/0284186X.2010.529824.
The recent advances in genomic research have made it possible to identify several new genomic-based biomarkers for prostate cancer. In this review we evaluate these new markers and speculate about future scenarios.
Today 35 single nucleotide polymorphisms (SNPs) have been identified and independently validated to associate with prostate cancer. These SNPs are common in the population (>5%) but the effect of these SNPs in these regions on prostate cancer risk is modest with odds ratios typically ranging between 1.1 and 1.3. It is estimated that these markers explain 25% of the familial risk of prostate cancer. However, it is anticipated that additional 50-75 prostate cancer SNPs will be identified in the near future. The SNPs associated with prostate cancer so far are not associated with disease stage or outcome. There are several efforts to identify germline genetic markers that can be used as prognostic markers. There are also tumor-based methods that are promising in identifying new genetic markers that can be easily measured in plasma or urine.
There are several new "genetic" markers that in the near future might be used in clinical routine. These markers are easy to measure and stable over time. However the challenge is not only to identify new biomarkers but the real test is to validate new biomarkers in several large well-characterized patient populations. This validation must be done together will all other known biomarkers at the same time as it not likely that one single marker is enough, but a panel of different markers. Today 2010 there are over 19 000 publications in the area of biomarkers and prostate cancer, but only one biomarker, PSA, is used in the clinic today!
基因组研究的最新进展使得鉴定出几个新的基于基因组的前列腺癌生物标志物成为可能。在这篇综述中,我们评估了这些新的标志物,并对未来的情况进行了推测。
目前已经确定并独立验证了 35 个单核苷酸多态性(SNP)与前列腺癌相关。这些 SNP 在人群中很常见(>5%),但这些区域的 SNP 对前列腺癌风险的影响是适度的,优势比通常在 1.1 到 1.3 之间。据估计,这些标志物解释了前列腺癌家族风险的 25%。然而,预计在不久的将来还会发现另外 50-75 个前列腺癌 SNP。到目前为止,与前列腺癌相关的 SNP 与疾病阶段或结局无关。目前有几项努力旨在识别可作为预后标志物的种系遗传标志物。也有基于肿瘤的方法,这些方法在识别可在血浆或尿液中轻易测量的新遗传标志物方面很有前景。
有几个新的“遗传”标志物在不久的将来可能会在临床常规中使用。这些标志物易于测量且随时间稳定。然而,挑战不仅在于识别新的生物标志物,而且真正的考验是在几个特征明确的大患者群体中验证新的生物标志物。这种验证必须与所有其他已知的生物标志物同时进行,因为不太可能一个单一的标志物就足够了,而是需要一组不同的标志物。截至 2010 年,有超过 19000 篇关于生物标志物和前列腺癌的出版物,但目前只有一个生物标志物 PSA 在临床上使用!