|
Bannayan-Riley-Ruvalcaba Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Here, we conducted a TCA targeted metabolomics study on 511 individuals with CS, CS-like syndrome, or BRRS with various genotypes (PTEN or SDHx, mutant or wild type [WT]) and phenotypes (cancer or ASD) and a series of 187 population controls.
|
31564436 |
2019 |
|
Bannayan-Riley-Ruvalcaba Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Looking for the hidden mutation: Bannayan-Riley-Ruvalcaba syndrome caused by constitutional and mosaic 10q23 microdeletions involving PTEN and BMPR1A.
|
31062505 |
2019 |
|
Bannayan-Riley-Ruvalcaba Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Intermediate uveitis in a child with phosphatase and tensin homolog gene mutation and Bannayan-Riley-Ruvalcaba syndrome.
|
31603075 |
2019 |
|
Bannayan-Riley-Ruvalcaba Syndrome
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
This case highlights the importance of early screening for PTEN mutations in cases of hemimegalencephaly not otherwise explained by another disorder, even in the absence of signs of Proteus syndrome or the full manifestations of Bannayan-Riley Ruvalcaba syndrome.
|
29444762 |
2018 |
|
Bannayan-Riley-Ruvalcaba Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Assessment of PTEN-associated vascular malformations in a patient with Bannayan-Riley-Ruvalcaba syndrome.
|
27358095 |
2016 |
|
Bannayan-Riley-Ruvalcaba Syndrome
|
0.700 |
Biomarker
|
disease |
BEFREE |
Phosphatase and tensin homolog (PTEN) hamartoma tumor syndrome (PHTS) encompasses several rare disorders linked to mutations of the PTEN gene, including Cowden disease (CD) and Bannayan-Riley-Ruvalcaba syndrome (BRRS).
|
25170002 |
2014 |
|
Bannayan-Riley-Ruvalcaba Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Mutations in PTEN gene are also found in patients with juvenile polyps and in Bannayan-Riley-Ruvalcaba syndrome and Cowden syndrome.
|
23599658 |
2013 |
|
Bannayan-Riley-Ruvalcaba Syndrome
|
0.700 |
Biomarker
|
disease |
BEFREE |
In this paper the authors report the case of a complex dural arteriovenous fistula (dAVF) with high-risk features in a 14-year-old girl with Bannayan-Riley-Ruvalcaba syndrome (BRRS), a phosphatase and tensin homolog-associated syndrome, presenting with signs and symptoms of increased intracranial pressure (ICP) that had previously been attributed to pseudotumor cerebri.
|
23662932 |
2013 |
|
Bannayan-Riley-Ruvalcaba Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
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 |
|
Bannayan-Riley-Ruvalcaba Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Predicting PTEN mutations: an evaluation of Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome clinical features.
|
21659347 |
2011 |
|
Bannayan-Riley-Ruvalcaba Syndrome
|
0.700 |
Biomarker
|
disease |
CTD_human |
Synchronous bilateral breast carcinoma in a patient with cowden syndrome: a case report with morphologic, immunohistochemical and genetic analysis.
|
19968660 |
2010 |
|
Bannayan-Riley-Ruvalcaba Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Molecular testing of the PTEN gene (phosphatase and tensin homolog protein) revealed a R355X mutation, consistent with the diagnosis of Bannayan-Riley-Ruvalcaba Syndrome (BRRS).
|
20814261 |
2010 |
|
Bannayan-Riley-Ruvalcaba Syndrome
|
0.700 |
Biomarker
|
disease |
CTD_human |
Bannayan-Riley-Ruvalcaba syndrome: a cause of extreme macrocephaly and neurodevelopmental delay.
|
19321504 |
2009 |
|
Bannayan-Riley-Ruvalcaba Syndrome
|
0.700 |
Biomarker
|
disease |
BEFREE |
PTEN, originally linked to Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome, has also been associated with JPS.
|
18178612 |
2008 |
|
Bannayan-Riley-Ruvalcaba Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Seemingly identical pathogenic PTEN mutations have been observed in patients with CS and BRRS, as well as in patients with incomplete features of CS, referred to as CS-like (CSL) patients.
|
18460397 |
2008 |
|
Bannayan-Riley-Ruvalcaba Syndrome
|
0.700 |
Biomarker
|
disease |
CTD_human |
Mutations in the PTEN gene are associated with a broad spectrum of disorders, including Cowden syndrome (CS), Bannayan-Riley-Ruvalcaba syndrome, Proteus syndrome, and Lhermitte-Duclos disease.
|
17427195 |
2007 |
|
Bannayan-Riley-Ruvalcaba Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the PTEN gene are associated with a broad spectrum of disorders, including Cowden syndrome (CS), Bannayan-Riley-Ruvalcaba syndrome, Proteus syndrome, and Lhermitte-Duclos disease.
|
17427195 |
2007 |
|
Bannayan-Riley-Ruvalcaba Syndrome
|
0.700 |
Biomarker
|
disease |
BEFREE |
Our data suggest that PTEN modulates PLC:PLD activation pathways and indicate that the pathogenesis of CS/BRRS has a more complex biochemical basis beyond simply activating the PI3K pathway.
|
17405772 |
2007 |
|
Bannayan-Riley-Ruvalcaba Syndrome
|
0.700 |
Biomarker
|
disease |
CTD_human |
Cowden syndrome and Bannayan Riley Ruvalcaba syndrome represent one condition with variable expression and age-related penetrance: results of a clinical study of PTEN mutation carriers.
|
17526800 |
2007 |
|
Bannayan-Riley-Ruvalcaba Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Cowden syndrome and Bannayan Riley Ruvalcaba syndrome represent one condition with variable expression and age-related penetrance: results of a clinical study of PTEN mutation carriers.
|
17526800 |
2007 |
|
Bannayan-Riley-Ruvalcaba Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Approximately, 10% of CS-related PTEN mutations occur in the PTEN promoter and 11% of BRRS-related mutations include large deletions, often favoring the gene's 5' end (exon 1, promoter).
|
17341483 |
2007 |
|
Bannayan-Riley-Ruvalcaba Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We show that cell lines from Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome patients with germ line PTEN promoter mutations in the vicinity of the p53-binding motifs have altered p53 regulation.
|
16424003 |
2006 |
|
Bannayan-Riley-Ruvalcaba Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We therefore sought to characterize the relative expression of 5', middle, and 3' full-length PTEN mRNA (FL-PTEN) and also of these eight PTEN SVs in 85 (65 female and 20 male) patients with CS/BRRS (with or without PTEN mutations) compared with 27 controls, using a SYBR green quantitative polymerase chain reaction method.
|
16773562 |
2006 |
|
Bannayan-Riley-Ruvalcaba Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
PTEN somatic mutations occur in sporadic tumors of the endometrium, brain, prostate, or melanomas, while germline mutations predispose to development of the multiple hamartoma syndromes (i.e., Cowden's disease and Bannayan-Zonana syndrome).
|
16487009 |
2006 |
|
Bannayan-Riley-Ruvalcaba Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
As PTEN is a dual phosphatase mutated in autosomal inherited disorders with phenotypes similar to those of PJS (Bannayan-Riley-Ruvalcaba syndrome and Cowden disease), our study suggests a functional link between the proteins involved in different hamartomatous polyposis syndromes and emphasizes the central role played by LKB1 as a tumor suppressor in the small intestine.
|
15987703 |
2005 |