Table 1.

Phenotype-Genotype correlations in familial adenomatous polyposis patients

Phenotype	Mutations	Authors
AFAP	APC extreme ends (exons 3,4,5) and exon 9	Spirio et al[5] 1993
Profuse polyposis (approximately 5000 polyps)	Between codons 1250-1464	Nagase et al[6] 1992
Severe polyposis and early CRC onset	Deletion in codon 1309	Caspari et al[7] 1995
Desmoid tumor	Between codons 1444-1580	Caspari et al[7] 1995
CHRPE	Between codons 463-1387	Olschwang et al[8] 1993
Thyroid cancer	5' to codon 1220	Cetta et al[9] 2000
Duodenal adenomas	Between codons 976-1067	Bertario et al[10] 2003
Rectal cancer	Codons 1250 to 1464	Bertario et al[11] 2000

AFAP: Attenuated familial adenomatous polyposis; APC: Adenomatous polyposis coli; CRC: Colorectal cancer; CHRPE: Congenital hypertrophy of the retinal pigment epithelium.