Table 1

Relevant clinical features of patients harbouring truncating variants in APC region A and APC region B

PhenotypeAPC region A
N (%)
APC region B
N (%)
Fisher exact test p-value
CP >5047/66 (71.2)3/22 (13.6)0.0151
CP <5019/66 (28.8)19/22 (86.4)
GPP/Ad+15/62 (24.2)7/13 (53.84)0.0461
GPP/Ad−47/62 (75.8)6/13 (46.15)
DT+19/76 (25)14/18 (77.8)<0.0001
DT−57/76 (75)4/18 (22.2)
  • CP, colon polyp; DT, desmoid tumour; GPP/Ad, gastric profuse polyposis/adenoma.