|
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 |
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 |
This study suggests that PTEN does not play a major role in predisposing to hereditary breast cancer in Israeli women, and that detection of PTEN mutations in BRRS patients is more likely in familial cases.
|
12372056 |
2002 |
|
Bannayan-Riley-Ruvalcaba Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Additionally, germ-line mutations of PTEN/MMAC1 are responsible for several familial neoplastic disorders, including Cowden disease and Bannayan-Zonana syndrome.
|
9354433 |
1997 |
|
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 |
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 |
Pooled analysis of PTEN mutation series of CS and BRRS occurring in the last five years reveals that 65% of CS-associated mutations occur in the first five exons encoding the phosphatase domain and the promoter region, while 60% of BRRS-associated mutations occur in the 3' four exons encoding mainly the C2 domain.
|
12938083 |
2003 |
|
Bannayan-Riley-Ruvalcaba Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Deletion of PTEN in a patient with Bannayan-Riley-Ruvalcaba syndrome suggests allelism with Cowden disease.
|
9286463 |
1997 |
|
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 |
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 |
GeneticVariation
|
disease |
BEFREE |
Germline PTEN mutation in a family with Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome.
|
9856571 |
1998 |
|
Bannayan-Riley-Ruvalcaba Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We report three new mutations in PTEN, the gene responsible for Cowden disease in five patients with Bannayan-Riley-Ruvalcaba syndrome from three unrelated families.
|
9832032 |
1998 |
|
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 |
|
Bannayan-Riley-Ruvalcaba Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Germline mutations in PTEN, which encode a dual-specificity phosphatase, have been implicated in at least two hamartoma tumor syndromes that exhibit some clinical overlap, Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome.
|
11395387 |
2001 |
|
Bannayan-Riley-Ruvalcaba Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Furthermore, we review the PTEN mutation positive BRRS cases, to further delineate the phenotype and to compare the cases with a genomic deletion with the cases with a point mutation.
|
14574156 |
2003 |
|
Bannayan-Riley-Ruvalcaba Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Using real time and multiplex PCR techniques, we identified three germline hemizygous PTEN deletions in 122 apparently mutation-negative patients with classic CS (N=95) or BRRS (N=27).
|
12844284 |
2003 |
|
Bannayan-Riley-Ruvalcaba Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Germ-line mutations of phosphatase and tensin homolog, deleted on chromosome ten (PTEN) are found in two inherited hamartoma tumor syndromes: Cowden syndrome, which has a high risk of breast, thyroid, and other cancers; and Bannayan-Zonana syndrome, a related disorder.
|
10582703 |
1999 |
|
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 |
PTEN, encoding a dual phosphatase tumor suppressor, is mutated in 85 and 65% of individuals with Cowden syndrome (CS) and Bannayan-Riley-Ruvalcaba syndrome (BRRS), respectively.
|
16014636 |
2005 |
|
Bannayan-Riley-Ruvalcaba Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Germline PTEN mutations cause Cowden syndrome (CS) and Bannayan-Riley-Ruvalcaba syndrome (BRR), two hamartoma-tumour syndromes, and somatic PTEN alterations have been shown to participate, to a greater or lesser extent, in a wide variety of sporadic neoplasia.
|
10749983 |
2000 |
|
Bannayan-Riley-Ruvalcaba Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We have shown that germline mutations of PTEN are present in individuals with two hamartoma syndromes: Cowden Syndrome, associated with a predisposition to breast and thyroid cancers, and Bannayan-Zonana syndrome.
|
9620558 |
1998 |
|
Bannayan-Riley-Ruvalcaba Syndrome
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
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 |
GeneticVariation
|
disease |
BEFREE |
Moreover, germline mutation of PTEN leads to the development of the related hereditary cancer predisposition syndromes, Cowden disease, and Bannayan-Zonana syndrome, wherein breast and thyroid cancer incidence is elevated.
|
15254063 |
2004 |
|
Bannayan-Riley-Ruvalcaba Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Germline mutations in the PTEN gene have recently been identified in some individuals with Cowden disease (CD), Lhermitte-Duclos disease (LDD), and Bannayan-Zonana syndrome.
|
10051160 |
1999 |