Spanning from cytobands 5q15 to 5q31, they have been extensively described in association with Gardner syndrome and Familial Adenomatous Polyposis 1 (FAP1; MIM#175100), autosomal dominant conditions due to inactivating variants of the APC regulator of the WNT signaling pathway gene (APC, MIM*611731) in 5q22.2 [1,2,3,4,5]. The gene discussed is APC; the disease is Familial adenomatous polyposis.