Having identified a LOF variant in REEP5 present in both P1 and P2, further independent evidence implicating this gene in AMT predisposition was found in a previous case report [37] of an individual with a chromosomal translocation t(5;8)(q22;p23.1) who was diagnosed with a mucin-secreting appendiceal carcinoma and familial adenomatous polyposis (FAP) at the age of 26 years. The gene discussed is REEP5; the disease is Familial adenomatous polyposis.