Juvenile polyposis syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The genetic variations can alter the structure and function of the BMPR1A gene that causes several diseases such as juvenile polyposis syndrome or hereditary cancer-predisposing syndrome.
|
30884445 |
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 |
More specifically, point mutations and structural abnormalities in BMPR1A lead to a highly penetrant yet variable phenotype of JPS.
|
31561016 |
2019 |
Juvenile polyposis syndrome
|
1.000 |
GeneticVariation
|
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 |
Variable Features of Juvenile Polyposis Syndrome With Gastric Involvement Among Patients With a Large Genomic Deletion of BMPR1A.
|
31259752 |
2019 |
Juvenile polyposis syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Through germline multigene panel testing, we discovered the co-occurrence of Lynch syndrome due to a PMS2 mutation and juvenile polyposis syndrome due to a BMPR1A mutation in a young man with synchronous bladder and colorectal cancers and a family history of colorectal polyps.
|
28600700 |
2018 |
Juvenile polyposis syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
This study evaluated the differential impact of SMAD4 and BMPR1A gene mutations on cancer risk and oncological phenotype in patients with juvenile polyposis syndrome.
|
25389115 |
2015 |
Juvenile polyposis syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Due to the chromosome 10 deletion involving contiguous portions of BMPR1A and PTEN in our patient, he may be at risk for CS associated cancers and features, in addition to the polyps associated with JPS.
|
25846706 |
2015 |
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 |
This is the first case report to document coding exon 3 duplication in the BMPR1A gene in a patient with juvenile polyposis syndrome.
|
25129392 |
2014 |
Juvenile polyposis syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In addition to this syndrome, gastric cancer risk is elevated in Lynch syndrome associated with germline mutations in DNA mismatch repair genes and microsatellite instability, in hereditary breast and ovarian cancer syndrome due to germline BRCA1 and BRCA2 mutations, in familial adenomatous polyposis caused by germline APC mutations, in Li-Fraumeni syndrome due to germline p53 mutations, in Peutz-Jeghers syndrome associated with germline STK11 mutations, and in juvenile polyposis syndrome associated with germline mutations in the SMAD4 and BMPR1A genes.
|
22846738 |
2013 |
Juvenile polyposis syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in BMPR1A or SMAD4 are found in roughly half of patients diagnosed with JPS.
|
23599658 |
2013 |
Juvenile polyposis syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the bone morphogenetic protein receptor type 1A (BMPR1A) are known to predispose to JP.
|
23433720 |
2013 |
Juvenile polyposis syndrome
|
1.000 |
ChromosomalRearrangement
|
disease |
ORPHANET |
Juvenile polyposis of infancy in a child with deletion of BMPR1A and PTEN genes: surgical approach.
|
23331837 |
2013 |
Juvenile polyposis syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Genetic analysis of the CDC73 gene [for Hyperparathyroidism-jaw tumor (HPT-JT)], MEN1 for Multiple Endocrine Neoplasia Type1, CDKN1B for MEN4, SDHB and SDHD for Paraganglioma/Pheochromocytoma susceptibility, VHL for von Hippel-Lindau Syndrome, BMPR1A and SMAD4 for Juvenile Polyposis Syndrome (JPS) (sequencing and MLPA), karyotype and array CGH (44 K) were all normal.
|
23242522 |
2013 |
Juvenile polyposis syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Juvenile polyposis of infancy in a child with deletion of BMPR1A and PTEN genes: surgical approach.
|
23331837 |
2013 |
Juvenile polyposis syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Prevalence of germline PTEN, BMPR1A, SMAD4, STK11, and ENG mutations in patients with moderate-load colorectal polyps.
|
23399955 |
2013 |
Juvenile polyposis syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Prevalence of germline PTEN, BMPR1A, SMAD4, STK11, and ENG mutations in patients with moderate-load colorectal polyps.
|
23399955 |
2013 |
Juvenile polyposis syndrome
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Diagnostic cancer genome sequencing and the contribution of germline variants.
|
23539595 |
2013 |
Juvenile polyposis syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
BMPR1A mutations in juvenile polyposis affect cellular localization.
|
23433720 |
2013 |
Juvenile polyposis syndrome
|
1.000 |
ChromosomalRearrangement
|
disease |
ORPHANET |
The current clinical findings and deletion of BMPR1A indicate a diagnosis of severe juvenile polyposis, but the existing macrocephaly and PTEN deletion also point to either CS or BRRS, which cannot be ruled out at the moment because of their clinical manifestation later in life and the de novo character of the deletion.
|
22993021 |
2013 |
Juvenile polyposis syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
A new case with 10q23 interstitial deletion encompassing both PTEN and BMPR1A narrows the genetic region deleted in juvenile polyposis syndrome.
|
22993021 |
2013 |
Juvenile polyposis syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Microdeletions of one of the two predisposing genes to JP, BMPR1A, have been associated with a severe form of JP called juvenile polyposis of infancy.
|
21834858 |
2012 |
Juvenile polyposis syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Bone morphogenetic protein (BMP) receptor type 1A (BMPR1A) mutations are associated with facial dysmorphism, which is one of the main clinical signs in both juvenile polyposis and chromosome 10q23 deletion syndromes.
|
22773757 |
2012 |
Juvenile polyposis syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
BMPR1A is a candidate gene for congenital heart defects associated with the recurrent 10q22q23 deletion syndrome.
|
22067610 |
2012 |