Gardner Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Sequencing analysis revealed that an APC gene mutation in exon 15, namely 4292-4293-Del GA, caused Gardner syndrome in this family.
|
28782241 |
2018 |
Gardner Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Subsequent testing for an APC mutation seen in GS and FAP was negative in our patient.
|
30269086 |
2018 |
Gardner Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
WES revealed a novel germline frameshift variant (p.E1554fs) in APC, establishing a diagnosis of Gardner syndrome, along with a somatic nonsense (p.R790*) APC mutation in the tumor.
|
27799065 |
2016 |
Gardner Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Gardner's syndrome is the association of familial adenomatous polyposis (FAP) with an anaphase promoting complex (APC) gene mutation and several extradigestive manifestations: osteomas, epidermal cysts and desmoid tumours.
|
27291484 |
2016 |
Gardner Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Stemming from a mutation in the adenomatous polyposis coli (APC) gene, Gardner syndrome shares genetic correlations with the FAP phenotype; as a result, it becomes all the more crucial for physicians to be able to discern Gardner syndrome from other differential diagnoses such as Turcot syndrome, FAP, and other attenuated forms of familial polyposis.
|
20141232 |
2010 |
Gardner Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Alterations of APC, including loss of the entire locus, and CTNNB1 mutation could explain the tumorigenesis in 89% of sporadic desmoids tumors and desmoids tumors occurring in the context of Gardner's syndrome.
|
20232483 |
2010 |
Gardner Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The E1573X mutation is the most distal mutation in the APC sequence reported to date as a mosaic and, interestingly, in the context of Gardner syndrome with extensive extracolonic features.
|
19617769 |
2009 |
Gardner Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
This disorder was regarded as a separate disease until the identification of the APC gene when it was recognized that mutations in the APC gene were the underlying cause of both Gardner syndrome and familial adenomatous polyposis (FAP).
|
16411234 |
2006 |
Gardner Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
A case of Gardner syndrome with a mutation at codon 1556 of APC: a suggested case of genotype-phenotype correlation in dental abnormality.
|
15095859 |
2004 |
Gardner Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Different mutations in the adenomatous polyposis coli (APC) gene have been shown to be associated with Gardner syndrome disease phenotypes.
|
14616385 |
2003 |
Gardner Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Somatic beta-catenin or APC gene mutations have been reported in < or =74% of sporadic deep fibromatoses and in virtually 100% of Gardner syndrome-associated fibromatoses, whereas genetic events in superficial fibromatoses remain less well characterized.
|
11455002 |
2001 |
Gardner Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
This study reports novel FAP- and Gardner syndrome-causing mutations in the APC gene.
|
11145293 |
2000 |
Gardner Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Severe Gardner syndrome in families with mutations restricted to a specific region of the APC gene.
|
7485167 |
1995 |
Gardner Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
These data suggest that more than one gene on chromosome 5q21 may contribute to colorectal carcinogenesis and that mutations at the APC gene can cause both adenomatous polyposis coli and Gardner's syndrome.
|
1324739 |
1992 |
Gardner Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
These data suggest that more than one gene on chromosome 5q21 may contribute to colorectal neoplasia, and that mutations of the APC gene can cause both FAP and GS.
|
1651563 |
1991 |
Gardner Syndrome
|
0.500 |
Biomarker
|
disease |
BEFREE |
These and published results including data on several constitutional deletions (M, SD, and brothers PW and ND) give a probable order of [cen] - [II227, proximal SD breakpoint] - [Cllpll] - [proximal PW/ND, M breakpoint(s), GM03314 breakpoint] - [ECB27] - [APC] - [YN5.48] - [distal PW/ND breakpoint] - [ECB134] - [distal M breakpoint] - [qter].
|
1665706 |
1991 |
Gardner Syndrome
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Gardner Syndrome
|
0.500 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|