COMMENTARY
See article on page 548
AFAP: variety is the spice of life
| The first 150 words of the full text of this article appear below. |
Familial adenomatous polyposis (FAP) has been known for over
100 years1; Gardner's syndrome, the familial
association of multiple colonic adenomas and early onset
colorectal cancer (CRC) with osteomas and multiple cutaneous
fibromas or epidermoid cysts has been known for almost 50 years.2 The discovery of the APC gene3 has
changed the diagnosis and clinical management of FAP radically.
Firstly, it became clear that FAP and Gardner's syndrome have the same
genetic basis. The expression of osteomas and of the cutaneous signs
varies greatly among people with the same mutation. Other phenotypic
variations have been found to have a genetic basis. For example,
congenital hypertrophy of the retinal pigment epithelium is associated
with mutations distal to exon 9,4 whereas susceptibility
to desmoid tumours is associated with mutations at codons 1444 and
15785 and a profuse number of colonic adenomas, often more
than 5000 (compared with the more typical 1000-2000), is associated
with mutations between
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- Variable phenotype of familial adenomatous polyposis in pedigrees with 3' mutation in the APC gene
- J D Brensinger, S J Laken, M C Luce, S M Powell, G H Vance, D J Ahnen, G M Petersen, S R Hamilton, and F M Giardiello
Gut 1998 43: 548-552.[Abstract] [Full Text] [PDF]
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