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The type of somatic mutation at APC in familial adenomatous polyposis is determined by the site of the germline mutation: a new facet to Knudson's 'two-hit' hypothesis.

Abstract:

APC is often cited as a prime example of a tumor suppressor gene. Truncating germline and somatic mutations (or, infrequently, allelic loss) occur in tumors in FAP (familial adenomatous polyposis). Most sporadic colorectal cancers also have two APC mutations. Clues from attenuated polyposis, missense germline variants with mild disease and the somatic mutation cluster region (codons 1,250-1,450) indicate, however, that APC mutations might not result in simple loss of protein function. We have...

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Publication status:
Published

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Publisher copy:
10.1038/12511

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Journal:
Nature medicine
Volume:
5
Issue:
9
Pages:
1071-1075
Publication date:
1999-09-05
DOI:
EISSN:
1546-170X
ISSN:
1078-8956
URN:
uuid:6bd9ff17-b308-48ea-8549-26096b22e21a
Source identifiers:
37139
Local pid:
pubs:37139

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