Table 2

Phenotype of patients with APC mosaicism (all had an attenuated polyposis and appeared to be sporadic cases)

Patient IDAge at diagnosis (years)—adenomasNo. of colorectal adenomasDistribution of adenomasColorectal cancer (position—age at diagnosis)Colectomy (age)Duodenal phenotypeExtracolonic phenotype/tumours
(A) Patients of polyp screening cohort
F12434851–100Whole colon, distal pronouncedYes (sigmoid colon, 48 years)Sigmoid resection (48 years)Spigelman stage IIUnremarkable
F15436021–50Whole colonNoNoNormalUnremarkable
F16765551–100Whole colonNoNoNormalGastric fundic gland polyps, gastric foveolar adenoma
F500049100–500Whole colonYes (rectum, 48 years)Proctocolectomy (48 years)NormalUnremarkable
F501861100–500Whole colonNoProctocolectomy (62 years)Spigelman stage IIIOsteoma?
(B) Patients of leucocyte screening cohort
F12524051–100Distal pronouncedNoNoNormalUnremarkable
F17273051–100Whole colonNoNoNormalUnremarkable