Familial adenomatous polyposis (FAP) is known to be associated with ne
oplasia of various tissues, including thyroid carcinoma. Germline muta
tions of the tumour-suppressor gene APC, responsible for the predispos
ition to FAP, may therefore be involved in the pathogenesis of these t
umours. In this report the structure of the APC gene has been investig
ated in 26 thyroid tumours, at different stages of dedifferentiation,
that were surgically excised from patients with a negative history of
FAP. Approximately 35% of the APC gene coding region, where most of th
e mutations are clustered, has been analysed by a combination of singl
e-strand conformation polymorphism and direct sequencing. No significa
nt alterations could be demonstrated in any sample examined. It is con
cluded that, at least in patients not affected by FAP, APC gene abnorm
alities do not seem to play a relevant role in the pathogenesis of thy
roid carcinoma.