Northwestern Medicine Digestive Health Center, Chicago, IL 60611, USA.
Invitae, San Francisco, CA 94103, USA.
Genes (Basel). 2021 Sep 26;12(10):1515. doi: 10.3390/genes12101515.
Our understanding of the molecular basis of colorectal neoplasia is derived from Mendelian genetics, with tumor suppressor genes contributing more to the deregulation of growth than oncogenes. In patients with hereditary syndromes, expression of one allele of a key tumor suppressor gene is absent at birth. The loss of the expression of the second allele precipitates tumorigenesis. However, there are multiple ways in which the expression of the second allele of a tumor suppressor gene is lost. Here, we review these ways and their possible effect on phenotype.
我们对结直肠肿瘤发生分子基础的理解源自孟德尔遗传学，抑癌基因比癌基因在生长失控中发挥更大的作用。在遗传性综合征患者中，出生时就缺失一个关键抑癌基因的一个等位基因的表达。第二个等位基因的表达缺失会引发肿瘤发生。然而，抑癌基因的第二个等位基因的表达缺失有多种方式。在这里，我们回顾这些方式及其对表型可能产生的影响。
