Table 1. Clinical and molecular characteristics of polyposis cases investigated.

	Case IDa	ASE statusb	Inheritance pattern	Number of polyps	Age at diagnosisc	Extracolonic manifestationsd	Classification of familye	Large rearrangement by MLPAf	APC methylation by MS-MLPAg
RESEARCH BASED	42	ASE	Sporadic	100-1000	40	No	FAP	No	No
	78	N	Sporadic	50	55	No	AFAP	No	No
	85-1	ASE	dominant	2000	38	Yes	FAP	No	No
	85-2	ASE	dominant	100-200	16	No	FAP	No	No
	85-3	NI	dominant	2000	44	No	FAP	NA	No
	85-4		dominant	100-200	12	No	FAP	NA	No
	88	N	sporadic	100-1000	58	No	FAP	No	No
	92	N	sporadic	200	51	No	FAP	No	No
	96	NI	sporadic	561	48	No	FAP	No	No
	97	N	sporadic	> 1000	58	No	FAP	No	No
	98		dominant	100-1000	30	No	FAP	No	No
	100	NI	sporadic	30	62	No	AFAP	No	No
	103	(ASE)	sporadic	> 100	51	No	FAP	No	No
	104	N	dominant?	210	54	Yes	FAP	No	No
	111	NI	sporadic	30-40	36	No	AFAP	No	No
	123	NI	sporadic	2100	37	No	FAP	No	No
	125	N	sporadic	300	31	No	FAP	No	No
CLINIC BASED	134		sporadic	200-300	55	No	FAP	No	No
	136		sporadic	>100	67	Yes	FAP	No	No
	139		sporadic	100	71	No	FAP	No	No
	145		recessive	20-50	61	No	AFAP	No	No
	148		sporadic	150-200	50	No	FAP	No	No
	158		sporadic	50	49	Yes	AFAP	No	No
	159		sporadic	200	50	No	FAP	No	No
	162		sporadic	>50	52	No	AFAP	No	No
	163	(ASE)	sporadic	10-20	16	Yes	AFAP	No	No
	165-1		dominant?	Colon cancer x 2	50	NA	AFAP	No	No
	165-2		dominant?	20-30	33	Yes	AFAP	No	No
	168		sporadic	100	56	Yes	FAP	No	No
	177		sporadic	100-200	52	No	FAP	No	No
	179		dominant?	>10	23	No	AFAP	No	No
	180		NA	>100	38	NA	FAP	No	No
	1001		dominant	10	48	NA	AFAP	No	No
	1003		sporadic	20-30	70	NA	AFAP	No	No
	1005		dominant	10-20	68	Yes	AFAP	No	No
	1006		sporadic	20	60	No	AFAP	No	No
	1007		sporadic	20	30	No	AFAP	No	No
	1010		dominant	5-10	68	NA	AFAP	No	No
	1011		NA	60-100	31	NA	FAP	No	No
	1013		sporadic	>100	48	NA	FAP	No	No
	1015		sporadic	10	47	Yes	AFAP	No	No
	1017		sporadic?	10-20	57	NA	AFAP	No	No
	1018		sporadic	20-30	74	NA	AFAP	No	No
	1019		sporadic	2-3	30	Yes	AFAP	No	No
	1020		sporadic	3	35	Yes	AFAP	No	No
	1021		sporadic	30	72	NA	AFAP	No	No
	1022		dominant	3	65	Yes	AFAP	No	No
	1023		sporadic	40	33	NA	AFAP	No	No
	1024		sporadic	20	72	NA	AFAP	No	No
	1025		sporadic	20-30	67	NA	AFAP	No	No
	1026		sporadic	10-20	51	NA	AFAP	No	No
	1029		sporadic	20-30	56	No	AFAP	No	No
	1030		sporadic	>10	59	No	AFAP	No	No
	1032		NA	8	63	Yes	AFAP	No	No
	1034		NA	>10	62	No	AFAP	No	No
	1035		sporadic	20-30	71	No	AFAP	No	No
	1036		dominant	>10	61	No	AFAP	No	No
	1037		sporadic	~10	52	No	AFAP	No	No

^aIdentification number of family, followed by identification number of individual if several family members were studied.

^bASE, shows allele-specific expression of APC; (ASE), putative ASE (see Materials and Methods); N, no ASE; NI, not informative (homozygous); blank, no RNA available

^cPolyposis or colorectal carcinoma, whichever comes first

^dDesmoids and duodenal adenomas in particular

^eBased on the number of intestinal adenomas with 100 as the cut-off

^fP043-C1 assay from MRC-Holland

^gME001-C1 assay from MRC-Holland

NA, information not available