Benedict Ng

TL;DR: It is proposed that the pathogenicity of previously reported variants within the MLH1 5′untranslated region (UTR) may be pathogenic due to constitutional partial loss ofMLH1 expression, and that this may be associated with intermediate penetrance of a Lynch syndrome phenotype.

TL;DR: The finding that LSTs exhibit a mutational load similar to colorectal carcinomas has implications for the validity of molecular biomarkers for assessing cancer risk and integrated omics data identify molecular features associated with noncancerous L STs highlight that mutation load, which is relatively high in Lsts, is a poor predictor of invasive potential.

TL;DR: Investigating silenced genes in adenomas suggests that silenced genes transition through an intermediary stage involving altered promoter nucleosome positioning, before permanent silencing by hypermethylation and dense nucleosomes occupancy.

TL;DR: This biomarker sub-study attempted to identify novel biomarkers involved in cancer treatment response to bevacizumab and identified a gain in Chromosome 19 that was exclusive to the exceptional survivors.