Cancer genes associated with phenotypes in monoallelic and biallelic mutation carriers: new lessons from old players. Hum. Mol. Genet., 16 Spec No 1:R60-6, 15 April 2007.Rahman N, Scott RH (2007) Cancer genes associated with phenotypes in monoallelic and biallelic mutation carriers: new ...
Other genes also falling into the randomly monoallelically expressed class have some cells with biallelic expression in addition to the cells with monoallelic expression. Here for the most part, we are talking about an all or none pattern such that the non- expressed alleles appear to be ...
Whilst biallelic MUTYH mutants result in impaired glycosylase function and invariably lead to a recessively inherited colorectal polyposis syndrome with a predisposition to colorectal cancer3, whether monoallelic carriers harbor a higher risk of cancers compared to the general population remains controversial...
s activity on dsDNA substrate [27,28,29,30]. Heterozygous frameshift mutations localized to the C-terminal tail region typically cause RVCL [7,26,31], where the molecular disease mechanism is likely subcellular mislocalization of the protein [6]. Moreover, some biallelic frameshift mutations in...