- 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...
Expand abstract - Publication status:
- Published
- 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
- Copyright date:
- 1998
Journal article
The APC variants I1307K and E1317Q are associated with colorectal tumors, but not always with a family history.
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