Ostrander Elaine A, Udler Miriam S
Cancer Genetic Branch, National Human Genome Research Institute, NIH, Room 52451, Building 50, Bethesda, MD 20892, USA.
Cancer Epidemiol Biomarkers Prev. 2008 Aug;17(8):1843-8. doi: 10.1158/1055-9965.EPI-08-0556.
Prostate cancer is a genetically complex disease with multiple predisposing factors affecting presentation, progression, and outcome. Epidemiologic studies have long shown an aggregation of breast and prostate cancer in some families. More recently, studies have reported an apparent excess of prostate cancer cases among BRCA2 mutation-carrying families. Additionally, population-based screens of early-onset prostate cancer patients have suggested that the prevalence of deleterious BRCA2 mutations in this group is 1% to 2%, imparting a significantly increased risk of the disease compared with noncarrier cases. However, studies of high-risk prostate cancer families suggest that BRCA2 plays at most a minimal role in these individuals, highlighting the potential genetic heterogeneity of the disease. In this commentary, we review the current literature and hypotheses surrounding the relationship between BRCA2 mutations and susceptibility to prostate cancer and speculate on the potential for involvement of additional genes.
前列腺癌是一种基因复杂的疾病，有多种易感因素影响其表现、进展和预后。流行病学研究长期以来表明，在一些家族中乳腺癌和前列腺癌存在聚集现象。最近，研究报告称携带BRCA2突变的家族中前列腺癌病例明显过多。此外，基于人群的早发性前列腺癌患者筛查表明，该组中有害BRCA2突变的患病率为1%至2%，与非携带者相比，患该疾病的风险显著增加。然而，对高危前列腺癌家族的研究表明，BRCA2在这些个体中至多起最小作用，这凸显了该疾病潜在的基因异质性。在这篇评论中，我们回顾了围绕BRCA2突变与前列腺癌易感性之间关系的当前文献和假说，并推测其他基因参与的可能性。
