Recurrent APC Splice Variant c.835-8A>G in Patients With Unexplained Colorectal Polyposis Fulfilling the Colibactin Mutational Signature

Despite the clear autosomal dominant inheritance of germline APC variants causing familial adenomatous polyposis, carriers can still present with a negative family history suggesting a de novo variant. Depending on the exact temporal occurrence of the de novo variant, all or only a subset of cells in the body will be affected. Presence of a de novo variant in only a subset of cells is called mosaicism. Jansen et al1Jansen A.M. et...