Lindor Noralane M, Hopper John, Dowty James
Department of Health Sciences Research, Mayo Clinic, 13400 East Shea Blvd., Scottsdale, AZ, USA.
Melbourne School of Population and Global Health, University of Melbourne, Parkville, VIC, 3010, Australia.
Fam Cancer. 2016 Jul;15(3):367-70. doi: 10.1007/s10689-016-9896-2.
The rapid clinical embrace of next generation multigene cancer predisposition panels has resulted in discovery of DNA variants in genes for which very limited data on penetrance has been published. Evidence for increased risks associated with these genes is often expressed in odds ratios and studies often were conducted on a priori high risk cohorts, i.e. those with young onset disease and/or positive family histories. Despite these limitations, one can estimate cumulative risks, which may be useful for health care providers who are counselling individuals on their results. We present cumulative risks for several under-studied genes and provide generic information that can be extrapolated to data still emerging.
新一代多基因癌症易感性检测板在临床上的迅速应用，使得人们发现了一些基因中的DNA变异，而关于这些基因外显率的公开数据非常有限。与这些基因相关的风险增加的证据通常以比值比来表示，而且研究往往是在先验的高危队列中进行的，即那些患有早发性疾病和/或有阳性家族史的人群。尽管存在这些局限性，但仍可以估算累积风险，这对于为个体提供检测结果咨询的医疗保健提供者可能会有所帮助。我们给出了几个研究较少的基因的累积风险，并提供了可以外推到仍在不断涌现的数据的一般信息。
