Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 324
Gene Symbol: APC
APC
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
Entrez Id: 324
Gene Symbol: APC
APC
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
Entrez Id: 324
Gene Symbol: APC
APC
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
Entrez Id: 324
Gene Symbol: APC
APC
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
Entrez Id: 324
Gene Symbol: APC
APC
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
Entrez Id: 324
Gene Symbol: APC
APC
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
Entrez Id: 324
Gene Symbol: APC
APC
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
Entrez Id: 324
Gene Symbol: APC
APC
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
Entrez Id: 324
Gene Symbol: APC
APC
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
Entrez Id: 324
Gene Symbol: APC
APC
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
Entrez Id: 324
Gene Symbol: APC
APC
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
Entrez Id: 324
Gene Symbol: APC
APC
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
Entrez Id: 324
Gene Symbol: APC
APC
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
Entrez Id: 324
Gene Symbol: APC
APC
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
Entrez Id: 324
Gene Symbol: APC
APC
0.800 GeneticVariation disease LHGDN Sporadic desmoid tumor in an Ashkenazi patient homozygous for the APC*I1307K gene mutation. 18770064 2008
Entrez Id: 324
Gene Symbol: APC
APC
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
Entrez Id: 324
Gene Symbol: APC
APC
0.800 GeneticVariation disease BEFREE APC mutations in FAP-associated desmoid tumours are non-random but not 'just right'. 17135276 2007
Entrez Id: 324
Gene Symbol: APC
APC
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
Entrez Id: 324
Gene Symbol: APC
APC
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
Entrez Id: 324
Gene Symbol: APC
APC
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
Entrez Id: 324
Gene Symbol: APC
APC
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
Entrez Id: 324
Gene Symbol: APC
APC
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
Entrez Id: 324
Gene Symbol: APC
APC
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
Entrez Id: 324
Gene Symbol: APC
APC
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
Entrez Id: 324
Gene Symbol: APC
APC
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