. 2004 May 15;2(2):81–91. doi: 10.1186/1897-4287-2-2-81

Table 7.

Disease characteristics in the families identified with missense mutations in the APC gene

Family mutation	Age of onset	Age of death	Sex	Family history	Disease phenotype	Extra-colonic disease
codon 1822 (hom)	26	-	Male	Yes	Polyposis	No

	48	48	Male		Polyposis	No

codon 1822	36	-	Female	Yes	Polyposis	No

	43	-	Male		Bowel Cancer	No

	40	-	Male		Polyposis	No

	43	46	Male		Bowel	No

codon 2502*	39	53	Female	Yes	Polyposis	Leiomyoma

	49	-	Male		Polyposis	Upper GI Polyposis

codon 1317	48	-	Male	Yes	Polyposis	No

	35	-	Male		Polyposis	No


codon 2502	45	-	Male	Yes	Polyposis	No

	-	77	Male	-		Renal Cancer

	-	60	Female	-		Multiple Myeloma

	-	66	Female	-		Breast Cancer

codon 1129	12	29	Male	No	Polyposis	No

codon 1640 and 2696	38	47	Male	Yes	Polyposis	CHRPE

	-	42	Male	-		Melanoma

	-	57	Male		Polyposis

	-	-	Male		Unknown	Unknown

codon 1822	31	-	Female	Yes	Polyposis	No

(hom)	42	-	Male		Polyposis	No

	26	27	Male		Bowel Cancer	No

codon 2502	38	-	Female		Rectal Cancer Multiple adenomas	No

	44	-	Male		Bowel Cancer Multiple adenomas

	-	80s	Male		Bowel Cancer	No

	28	-	Female		Multiple adenomas	No

	34	-	Male		Multiple adenomas


codon 1129	62	-	Male	No	Polyposis	Bowel Cancer Upper GI Polyposis

codon 1413*	35	-	Female	No	Bowel Cancer	No

*both these patients harboured premature termination codons in the APC gene (one in exon 4 and the other in exon 15, respectively), hom = homozygote