|
Fibromatosis, Aggressive
|
0.800 |
CausalMutation
|
disease |
CGI |
|
|
|
|
Fibromatosis, Aggressive
|
0.800 |
SomaticCausalMutation
|
disease |
ORPHANET |
|
|
|
|
Fibromatosis, Aggressive
|
0.800 |
GenomicAlterations
|
disease |
CGI |
|
|
|
|
Fibromatosis, Aggressive
|
0.800 |
Biomarker
|
disease |
HPO |
|
|
|
|
Fibromatosis, Aggressive
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
Fibromatosis, Aggressive
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Coexistence of somatic and germ-line mutations of APC gene in desmoid tumors from patients with familial adenomatous polyposis.
|
8221638 |
1993 |
|
Fibromatosis, Aggressive
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
This study investigated the risk of desmoids in FAP, the relation between specific APC gene mutations and desmoid formation, and the clinical characteristics of FAP patients with desmoids.
|
8150351 |
1994 |
|
Fibromatosis, Aggressive
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
No 5' APC mutations were detected in two patients with desmoid tumours and a family history of colorectal cancer and polyps.
|
8835324 |
1995 |
|
Fibromatosis, Aggressive
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Familial adenomatous polyposis: desmoid tumours and lack of ophthalmic lesions (CHRPE) associated with APC mutations beyond codon 1444.
|
7795585 |
1995 |
|
Fibromatosis, Aggressive
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
FAP is caused by mutations in the APC gene and various genotype-phenotype relationships have been defined including reports that colorectal polyposis is less severe with mutations 5' to codon 157 and that the risk of desmoid tumours is high in FAP patients with APC gene mutations between codons 1444 and 1598.
|
8968744 |
1996 |
|
Fibromatosis, Aggressive
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
These findings are compatible with the presence of a "second hit" inactivation of the APC gene and implicate this gene in the pathogenesis of desmoid tumors.
|
8608492 |
1996 |
|
Fibromatosis, Aggressive
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A similarity to abdominal fibromatoses (desmoids) in familial adenomatous polyposis and a cytogenetic study showing partial deletion of 5q in a subset of aggressive fibromatoses suggests that the adenomatous polyposis coli (APC) gene plays a role in its pathogenesis.
|
9250146 |
1997 |
|
Fibromatosis, Aggressive
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The APC gene, which is responsible for FAP, is involved in the development of desmoids associated with this syndrome.
|
9744495 |
1998 |
|
Fibromatosis, Aggressive
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the APC gene contribute to development of sporadic desmoid tumors as well as to the hereditary tumors that usually accompany familial adenomatous polyposis (FAP).
|
10367940 |
1998 |
|
Fibromatosis, Aggressive
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutational analysis of the beta-catenin and APC genes was performed in 42 sporadic aggressive fibromatoses.
|
10597266 |
1999 |
|
Fibromatosis, Aggressive
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A germline mutation at the extreme 3' end of the APC gene results in a severe desmoid phenotype and is associated with overexpression of beta-catenin in the desmoid tumor.
|
10782927 |
2000 |
|
Fibromatosis, Aggressive
|
0.800 |
Biomarker
|
disease |
CTD_human |
It has been shown in molecular genetic examinations, that different mutations of the APC gene are responsible for desmoid tumors in FAP.
|
11816139 |
2001 |
|
Fibromatosis, Aggressive
|
0.800 |
Biomarker
|
disease |
BEFREE |
The aim of this study was to assess the potential for APC gene transfer into fibroblasts in vitro and in vivo as a basis for consideration of gene therapy in the prevention or treatment of desmoid tumours.
|
12445067 |
2002 |
|
Fibromatosis, Aggressive
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The spectrum of beta-catenin and APC alterations is similar to that described for desmoid tumors of the abdomen, paraspinal region, and extremities.
|
11823972 |
2002 |
|
Fibromatosis, Aggressive
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
FAP results from germline adenomatous polyposis coli (APC) gene mutations and desmoids arise following biallelic APC mutation, with one change usually occurring distal to the second beta-catenin binding/degradation repeat of the gene (3' to codon 1399).
|
15542524 |
2004 |
|
Fibromatosis, Aggressive
|
0.800 |
GeneticVariation
|
disease |
LHGDN |
We found that whereas FAP-associated desmoid tumors are caused by germline APC mutations followed by somatic inactivation of the wild-type APC allele, sporadic desmoids are usually characterized by oncogenic mutations in the b-catenin gene, both identical molecular alterations to those found in the vast majority of colorectal cancers.
|
15832580 |
2005 |
|
Fibromatosis, Aggressive
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Genetic testing for germline mutations of the APC gene in patients with apparently sporadic desmoid tumors but a family history of colorectal carcinoma.
|
15793634 |
2005 |
|
Fibromatosis, Aggressive
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
APC mutations in FAP-associated desmoid tumours are non-random but not 'just right'.
|
17135276 |
2007 |
|
Fibromatosis, Aggressive
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
An analysis was made of the association between development of desmoid and age at colectomy, family history of desmoids, gender, and APC mutation in FAP patients in the Registry (1980-2005) at Mount Sinai Hospital, Toronto, Ontario, Canada.
|
17916546 |
2007 |
|
Fibromatosis, Aggressive
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
This family report shows that a molecular analysis of the APC gene should be performed in familial desmoid tumors for accurate genetic counseling and follow-up.
|
17426470 |
2007 |