|
Juvenile polyposis syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Loss-of-function pathogenic variants in SMAD4 cause juvenile polyposis syndrome and we hypothesize that the gain-of-function pathogenic variants observed in Myhre syndrome may contribute to neoplasia in the patients reported herein.
|
31837202 |
2020 |
|
Juvenile polyposis syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In the proband, the analysis showed the presence of a truncating mutation in the SMAD4 gene (c.1213dupC, a variant previously associated with juvenile polyposis and Hereditary Hemorrhagic Teleangectasia).
|
30196345 |
2019 |
|
Juvenile polyposis syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Through this case report we aim to discuss the pathophysiology of juvenile polyposis syndrome (JPS), highlight what we believe to be a novel presentation of comorbid BMPR1A mutation and ASD and hypothesise that patients with BMPR1A mutation and JPS may be at risk of previously unrecognised cardiovascular complications analogous to the previous association of SMAD4 JPS and cardiac abnormalities.
|
31229977 |
2019 |
|
Juvenile polyposis syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Patients with gastric juvenile polyposis and SMAD4 mutations are at a high risk of developing gastric cancer; hence, early gastrectomy should be considered.
|
30873576 |
2019 |
|
Juvenile polyposis syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Juvenile polyposis syndrome (JPS) may coexist with hereditary hemorrhagic telangiectasia (HHT) due to implication of the SMAD4 gene in a subset of both diseases.
|
30521991 |
2019 |
|
Juvenile polyposis syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The SMAD4 and BMPR1A genes that are involved in 50-60% of JPS cases have not been investigated in the ~ 20 published cases of NF1-associated JLIHMPs with the exception of the abovementioned patient with concomitant JPS and NF1.
|
30276464 |
2019 |
|
Juvenile polyposis syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
These results suggest that SMAD4 rare missense variants can lead to thoracic aortic disease in individuals who do not have JPS or HHT.
|
30809044 |
2019 |
|
Juvenile polyposis syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
One patient with mutations in both ENG and ACVRL1 genes was identified, as were two SMAD4-mutated patients suffering from the overlapping juvenile polyposis-HHT syndrome.
|
30251589 |
2018 |
|
Juvenile polyposis syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the SMAD4 gene are present in families with juvenile polyposis-HHT syndrome that involves AVMs.
|
29976569 |
2018 |
|
Juvenile polyposis syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
SMAD4 immunohistochemstry is a helpful ancillary diagnostic test in cases of suspected juvenile polyposis syndrome involving the stomach.
|
28340255 |
2017 |
|
Juvenile polyposis syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes.
|
28944238 |
2017 |
|
Juvenile polyposis syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Our findings support that SMAD4 mutations carriers have symptoms of both HHT and JPS and that the frequency of PAVM and gastric involvement with polyps is higher than in patients with HHT or JPS not caused by a SMAD4 mutation.
|
26572829 |
2016 |
|
Juvenile polyposis syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.
|
26681312 |
2016 |
|
Juvenile polyposis syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Smad4 suppresses the tumorigenesis and aggressiveness of neuroblastoma through repressing the expression of heparanase.
|
27595937 |
2016 |
|
Juvenile polyposis syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Gain-of-function mutations in SMAD4 cause a distinctive repertoire of cardiovascular phenotypes in patients with Myhre syndrome.
|
27302097 |
2016 |
|
Juvenile polyposis syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Smad4 suppresses the tumorigenesis and aggressiveness of neuroblastoma through repressing the expression of heparanase.
|
27595937 |
2016 |
|
Juvenile polyposis syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Severe constipation in a patient with Myhre syndrome: a case report.
|
26636501 |
2016 |
|
Juvenile polyposis syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
A SMAD4 mutation indicative of juvenile polyposis syndrome in a family previously diagnosed with Menetrier's disease.
|
27375208 |
2016 |
|
Juvenile polyposis syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A dominant 1244_1247delACAG mutation of SMAD4 was identified in each of the subjects with JPS as well as in each of the subjects with MD.
|
27375208 |
2016 |
|
Juvenile polyposis syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Juvenile polyposis syndrome (JPS) is a rare autosomal dominant disorder predisposing to gastrointestinal hamartomatous polyps and cancer with a pathogenic SMAD4 or BMPR1A germline mutation (1st-hit) being identified in about 40-50% of patients.
|
26171675 |
2015 |
|
Juvenile polyposis syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Alternatively, because simultaneous disruption of both the PTEN and TGF-β/SMAD4 pathways is associated with development of esophageal cancer in a mouse model and because SMAD4 mutations cause gastrointestinal hamartomas in juvenile polyposis syndrome, the SMAD7 mutation may represent an additional modifier of these individuals' PTEN-mutant phenotype.
|
25554686 |
2015 |
|
Juvenile polyposis syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Patients with juvenile polyposis syndrome and germline SMAD4 or BMPR1A mutations were identified from a prospectively maintained institutional registry.
|
25389115 |
2015 |
|
Juvenile polyposis syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Mutations in SMAD4 have been associated with juvenile polyposis syndrome and combined juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome.SMAD4 is part of the SMAD gene family.
|
26165824 |
2015 |
|
Juvenile polyposis syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Causative mutations for JPS have been identified in two genes to date, SMAD4 and BMPR1A.
|
26159157 |
2015 |
|
Juvenile polyposis syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In children with SMAD4 mutation and juvenile polyposis, this overlap syndrome needs to be considered in the differential diagnosis and prompt the clinician to look for telangiectasias on examination and consider surveillance imaging to look for arteriovenous malformations.
|
25432397 |
2015 |