Table 1.
Reference | Family History | Polyposis Syndrome | Age of FAP Dx (y) | Age of HCC Dx (y) | Other Tumors | Germline Mutation | Somatic Mutation |
---|---|---|---|---|---|---|---|
Veale,10 1965 | − | FAP | — | 25 | — | — | — |
Weinberger et al,14 1981 | + | Gardner | 20 | 3 | Epidermoid cysts | — | — |
Zeze et al,15 1983 | + | FAP | 31 | 33 | — | — | — |
Laferla et al,11 1988 | − | FAP | 43 | 43 | Gastric carcinoma | — | — |
Van Steenbergen et al,13 1989 | + | FAP | 19 | 19 | — | — | — |
Spigelman et al,12 1991 | + | FAP | — | 78 | Tumors of the bile ducts, pancreas and duodenum | — | — |
Gruner et al,4 1998 | − | Gardner | 18 | 15. Fibrolamellar HCC. | Desmoid tumor | Between codon 1099–1693 | — |
+ | FAP | — | 9 | — | — | — | |
Su et al,3 2001 | + | Gardner | 15 | 28 | Desmoid tumor | Codon 208 | Codon 568 |
Li et al, 2011 | + | aFAP | 41 | 42 | — | IVS4+5G>A | — |
Abbreviations: − = negative; + = positive; — = unknown; aFAP = attenuated familial adenomatous polyposis; Dx = diagnosis; FAP = familial adenomatous polyposis; HCC = hepatocellular carcinoma; IVS = intervening sequence.