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Journal article

The APC variants I1307K and E1317Q are associated with colorectal tumors, but not always with a family history.

Abstract:

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 patients have "multiple" colorectal adenomas (typically fewer than 100) without the f...

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Publication status:
Published

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Publisher copy:
10.1073/pnas.95.18.10722

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Journal:
Proceedings of the National Academy of Sciences of the United States of America
Volume:
95
Issue:
18
Pages:
10722-10727
Publication date:
1998-09-05
DOI:
EISSN:
1091-6490
ISSN:
0027-8424
URN:
uuid:dc368bc7-ec06-4546-98da-eb0a753d0bc9
Source identifiers:
72336
Local pid:
pubs:72336

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