Fibromatosis, Aggressive
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the <i>APC, CTNNB1</i> and <i>MUTYH</i> genes were detected in patients with DTs.
|
31807167 |
2019 |
Fibromatosis, Aggressive
|
0.800 |
Biomarker
|
disease |
BEFREE |
In agreement with Knudson's 'two-hit' theory, the inactivation of the residual APC gene in FAP is a critical step in the development of both colorectal cancer and desmoids.
|
28668823 |
2017 |
Fibromatosis, Aggressive
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The finding of low-frequency CTNNB1 mutation or APC loss in wild-type desmoids was validated in the remaining eight wild-type desmoids; directed miSeq identified low-frequency CTNNB1 mutation in four and comparative genomic hybridization identified APC loss in one.
|
26171757 |
2015 |
Fibromatosis, Aggressive
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
There is an increased risk for desmoid tumors in individuals with APC mutations between codons 543-713 and 1310-2011 when compared to a reference population.
|
26179480 |
2015 |
Fibromatosis, Aggressive
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Aggressive fibromatosis (AF) is a rare fibroblastic proliferative disease with a locally aggressive behavior and no distant metastasis, characterized by driver mutations in CTNNB1 or the APC gene.
|
25174682 |
2014 |
Fibromatosis, Aggressive
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We report a familial adenomatous polyposis patient with a known truncating mutation on exon 15 of the APC gene who developed an invasive follicular thyroid cancer in addition to multiple intra-cranial and spinal desmoids.
|
23604857 |
2013 |
Fibromatosis, Aggressive
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We performed IHC of β-catenin and mutation analysis of CTNNB1 and APC in 18 paediatric desmoid tumours, diagnosed between 1990 and 2009 in the Erasmus MC, Rotterdam.
|
22305464 |
2012 |
Fibromatosis, Aggressive
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
As predicted by the APC germline mutations among these patients, a high percentage (29%) of FAP-associated desmoids showed loss of the APC region at 5q22.2, which was infrequently (3%) seen among sporadic tumours.
|
21931686 |
2011 |
Fibromatosis, Aggressive
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Family history, surgery, and APC mutation are risk factors for desmoid tumors in familial adenomatous polyposis: an international cohort study.
|
21904137 |
2011 |
Fibromatosis, Aggressive
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Previous studies reported that CTNNB1 mutations were detected in 84% and that mutations of the APC gene were found in several cases of sporadic desmoid tumors lacking CTNNB1 mutations.
|
20232483 |
2010 |
Fibromatosis, Aggressive
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Multivariate analysis was performed, and hazard ratios (HR) calculated for variables including female gender, 3' APC mutation, surgical intervention for FAP (colectomy with ileo-rectal anastomosis or restorative proctocolectomy), age at surgery and family history (FH) of desmoids.
|
20352275 |
2010 |
Fibromatosis, Aggressive
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Identification of somatic APC mutations in recurrent desmoid tumors in a patient with familial adenomatous polyposis to determine actual recurrence of the original tumor or de novo occurrence.
|
18704758 |
2009 |
Fibromatosis, Aggressive
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Desmoid tumors (desmoid-type fibromatoses) are locally aggressive soft tissue tumors associated with the Wnt/beta-catenin signaling pathway (APC-beta-catenin-Tcf pathway).
|
18715618 |
2008 |
Fibromatosis, Aggressive
|
0.800 |
Biomarker
|
disease |
BEFREE |
The truncated APC gene retained 3 repeats in 88% (7/8) of FAP duodenal tumors, 100% (26/26) of gastric tumors retained 2 or 3 repeats and 83% (5/6) of desmoid tumors retained 2 repeats.
|
18224684 |
2008 |
Fibromatosis, Aggressive
|
0.800 |
GeneticVariation
|
disease |
LHGDN |
Sporadic desmoid tumor in an Ashkenazi patient homozygous for the APC*I1307K gene mutation.
|
18770064 |
2008 |
Fibromatosis, Aggressive
|
0.800 |
GeneticVariation
|
disease |
LHGDN |
Desmoid tumors occurring in the background of familial adenomatous polyposis (FAP) usually contain inactivating germline mutations in the adenomatous polyposis coli (APC) gene.
|
17952864 |
2008 |
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 |
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 |
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 |
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 |
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 |