|
Adenomatous Polyposis Coli
|
|
0.720 |
GeneticVariation
|
BEFREE |
Sequence analysis revealed that a patient with a high level of ASE who did not have a family history of CRC carried a nonsense mutation in APC (p.Arg216X).
|
21995949 |
2012 |
|
Adenomatous Polyposis Coli
|
|
0.720 |
GeneticVariation
|
BEFREE |
A mutation in exon 6, Arg216Stop, was identified in one patient with FAP and CHRPE.
|
10755094 |
2000 |
|
Adenomatous Polyposis Coli
|
|
0.720 |
CausalMutation
|
CLINVAR |
|
|
|
|
Colorectal Carcinoma
|
|
0.710 |
GeneticVariation
|
BEFREE |
Sequence analysis revealed that a patient with a high level of ASE who did not have a family history of CRC carried a nonsense mutation in APC (p.Arg216X).
|
21995949 |
2012 |
|
Colorectal Carcinoma
|
|
0.710 |
CausalMutation
|
CLINVAR |
|
|
|
|
Neoplastic Syndromes, Hereditary
|
|
0.700 |
CausalMutation
|
CLINVAR |
Contribution of APC and MUTYH mutations to familial adenomatous polyposis susceptibility in Hungary.
|
26446593 |
2016 |
|
Polyposis, Adenomatous Intestinal
|
|
0.700 |
CausalMutation
|
CLINVAR |
APC germline mutations in individuals being evaluated for familial adenomatous polyposis: a review of the Mayo Clinic experience with 1591 consecutive tests.
|
23159591 |
2013 |
|
Neoplastic Syndromes, Hereditary
|
|
0.700 |
CausalMutation
|
CLINVAR |
Clinical and genetic characterization of classical forms of familial adenomatous polyposis: a Spanish population study.
|
20924072 |
2011 |
|
Neoplastic Syndromes, Hereditary
|
|
0.700 |
CausalMutation
|
CLINVAR |
Germline APC mutation spectrum derived from 863 genomic variations identified through a 15-year medical genetics service to French patients with FAP.
|
20685668 |
2010 |
|
Polyposis, Adenomatous Intestinal
|
|
0.700 |
CausalMutation
|
CLINVAR |
Germline APC mutation spectrum derived from 863 genomic variations identified through a 15-year medical genetics service to French patients with FAP.
|
20685668 |
2010 |
|
Polyposis, Adenomatous Intestinal
|
|
0.700 |
CausalMutation
|
CLINVAR |
Molecular analysis of the APC and MUTYH genes in Galician and Catalonian FAP families: a different spectrum of mutations?
|
19531215 |
2009 |
|
Polyposis, Adenomatous Intestinal
|
|
0.700 |
CausalMutation
|
CLINVAR |
Novel APC mutations in Czech and Slovak FAP families: clinical and genetic aspects.
|
17411426 |
2007 |
|
Polyposis, Adenomatous Intestinal
|
|
0.700 |
CausalMutation
|
CLINVAR |
Mutation spectrum of the APC gene in 83 Korean FAP families.
|
16088911 |
2005 |
|
Neoplastic Syndromes, Hereditary
|
|
0.700 |
CausalMutation
|
CLINVAR |
Mutation spectrum of the APC gene in 83 Korean FAP families.
|
16088911 |
2005 |
|
Polyposis, Adenomatous Intestinal
|
|
0.700 |
CausalMutation
|
CLINVAR |
Mutation analysis of the adenomatous polyposis coli (APC) gene in Danish patients with familial adenomatous polyposis (FAP).
|
15108286 |
2004 |
|
Neoplastic Syndromes, Hereditary
|
|
0.700 |
CausalMutation
|
CLINVAR |
Pathogenic mutations and rare variants of the APC gene identified in 75 Belgian patients with familial adenomatous polyposis by fluorescent enzymatic mutation detection (EMD).
|
12173026 |
2002 |
|
Polyposis, Adenomatous Intestinal
|
|
0.700 |
CausalMutation
|
CLINVAR |
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.
|
10470088 |
1999 |
|
Neoplastic Syndromes, Hereditary
|
|
0.700 |
CausalMutation
|
CLINVAR |
Characteristics of somatic mutation of the adenomatous polyposis coli gene in colorectal tumors.
|
8187091 |
1994 |
|
Desmoid disease, hereditary
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
Stomach Neoplasms
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
Liver carcinoma
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
Congenital hypertrophy of retinal pigment epithelium
|
|
0.010 |
GeneticVariation
|
BEFREE |
A mutation in exon 6, Arg216Stop, was identified in one patient with FAP and CHRPE.
|
10755094 |
2000 |