Journal article icon

Journal article

Mutation cluster region, association between germline and somatic mutations and genotype-phenotype correlation in upper gastrointestinal familial adenomatous polyposis.

Abstract:

Studies of adenomatous polyposis coli (APC) mutations in familial adenomatous polyposis (FAP) have focused on large bowel disease. It has been found that: 1) germline APC mutations around codon 1300 are associated with severe colorectal polyposis; 2) somatic APC mutations in colorectal tumors tend to cluster approximately between codons 1250 and 1450; and 3) patients with germline mutations close to codon 1300 tend to acquire somatic mutations (second hits) in their colorectal polyps by allel...

Expand abstract

Actions


Access Document


Authors


Journal:
American journal of pathology More from this journal
Volume:
160
Issue:
6
Pages:
2055-2061
Publication date:
2002-06-01
DOI:
EISSN:
1525-2191
ISSN:
0002-9440
Language:
English
Keywords:
Pubs id:
pubs:72029
UUID:
uuid:a77ae563-c8f8-4488-b616-62b05f75d231
Local pid:
pubs:72029
Source identifiers:
72029
Deposit date:
2012-12-19

Terms of use


Views and Downloads






If you are the owner of this record, you can report an update to it here: Report update to this record

TO TOP