Low frequency of POLD1 and POLE exonuclease domain variants in patients with multiple colorectal polyps.
Fadwa A ElsayedCarli M J TopsMaartje NielsenDina RuanoHans F A VasenHans MorreauFrederik J HesJ Tom van WezelPublished in: Molecular genetics & genomic medicine (2019)
This study confirms the low frequency of causal variants in these genes in the predisposition for multiple colorectal polyps, and also establishes that these genes are a rare cause of the disease.