Germline Missense Changes in the APC Gene and Their Relationship to Disease

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

ISSN: 1897-4287