Carli M.J. Tops

Prevalence and consequences of APC mosaicism in patients with colorectal adenomas

The paper identifies APC mosaicism in patients with colorectal adenomas, finds higher prevalence in those meeting hereditary polyposis guidelines, and recommends targeted testing and surveillance.

Mismatch repair gene specifications to the ACMG/AMP classification criteria: Consensus recommendations from the InSiGHT ClinGen Hereditary Colorectal Cancer / Polyposis Variant Curation Expert Panel

The paper specifies MMR gene-specific criteria to the ACMG/AMP classification system, reclassifying some variants and providing a framework for improved pathogenicity assessment.

Systematic large-scale application of ClinGen InSiGHT APC-specific ACMG/AMP variant classification criteria substantially alleviates the burden of variants of uncertain significance in ClinVar and LOVD databases