Article
The APC variants I1307K and E1317Q are associated with colorectal tumors, but not always with a family history.
Proceedings of the National Academy of Sciences of the United States of America - 1 Sept 1998
Frayling I M, Beck N E, Ilyas M, Dove-Edwin I, Goodman P, Pack K, Bell J A, Williams C B, Hodgson S V, Thomas H J, Talbot I C, Bodmer W F, Tomlinson I P
Abstract excerpt
Classical familial adenomatous polyposis (FAP) is a high-penetrance autosomal dominant disease that predisposes to hundreds or thousands of colorectal adenomas and carcinoma and that results from truncating mutations in the APC gene. A variant of FAP is attenuated adenomatous polyposis coli, which results from germ-line mutations in the 5' and 3' regions of the APC gene. Attenuated adenomatous polyposis coli...
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