|
Hamartoma Syndrome, Multiple
|
1.000 |
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 |
|
Hamartoma Syndrome, Multiple
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The tumors were sequenced for mutations in the TERT promoter and 22 additional cancer-related genes, interestingly; one patient was shown to carry a deleterious intronic variant in PTEN, a tumor suppressor gene coupled to thyroid tumorigenesis and Cowden syndrome.
|
31699114 |
2019 |
|
Hamartoma Syndrome, Multiple
|
1.000 |
Biomarker
|
disease |
BEFREE |
These tumors showed null immunostaining for PTEN.She was genetically diagnosed with CS.
|
31664961 |
2019 |
|
Hamartoma Syndrome, Multiple
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Intermediate uveitis in a child with phosphatase and tensin homolog gene mutation and Bannayan-Riley-Ruvalcaba syndrome.
|
31603075 |
2019 |
|
Hamartoma Syndrome, Multiple
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We identified one pathogenic variant in PTEN in a patient subsequently confirmed to have a hereditary hamartoma tumor syndrome (Cowden syndrome) and one patient with a pathogenic heterozygous variant in PMS2 that was originally not identified by WES due to low quality reads resulting from pseudogenes.
|
30809968 |
2019 |
|
Hamartoma Syndrome, Multiple
|
1.000 |
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 |
|
Hamartoma Syndrome, Multiple
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The lesion is associated with PTEN gene mutation, and it is considered to be one of the diagnostic criteria of Cowden's syndrome.
|
30517962 |
2019 |
|
Hamartoma Syndrome, Multiple
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A germline PTEN mutation results in multi-organ involvement and is termed Cowden syndrome.
|
31807781 |
2019 |
|
Hamartoma Syndrome, Multiple
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Cowden disease is a genetic disorder associated with a mutation of the PTEN gene and is known to be easily complicated by generalized vascular malformations and malignant tumors.
|
29636101 |
2018 |
|
Hamartoma Syndrome, Multiple
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The diagnosis of Cowden syndrome with PTEN gene mutation, linked to higher risk of neoplasia and occurrence of hamartomatous lesions characteristic of the Lhermitte-Duclos disease (LDD), was confirmed by genetic investigation.
|
30153148 |
2018 |
|
Hamartoma Syndrome, Multiple
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Genetic testing confirmed the diagnosis of Cowden syndrome with a mutation in intron 3 of the PTEN gene.
|
26795104 |
2018 |
|
Hamartoma Syndrome, Multiple
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
A Saturation Mutagenesis Approach to Understanding PTEN Lipid Phosphatase Activity and Genotype-Phenotype Relationships.
|
29706350 |
2018 |
|
Hamartoma Syndrome, Multiple
|
1.000 |
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 |
|
Hamartoma Syndrome, Multiple
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Multiplex assessment of protein variant abundance by massively parallel sequencing.
|
29785012 |
2018 |
|
Hamartoma Syndrome, Multiple
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Germline mutations of phosphatase and tensin homolog (PTEN) are implicated in CS and in the development of osteosarcoma.
|
29496690 |
2018 |
|
Hamartoma Syndrome, Multiple
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Sporadic-type intramucosal lipomas were identified in 17 patients (68%) without evidence of Cowden syndrome, including three with normal PTEN genetic testing.
|
29192650 |
2018 |
|
Hamartoma Syndrome, Multiple
|
1.000 |
Biomarker
|
disease |
BEFREE |
Tumor-induced osteomalacia in association with PTEN-negative Cowden syndrome.
|
29380000 |
2018 |
|
Hamartoma Syndrome, Multiple
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Along with previous reports, this case suggests that acral plexiform PENs may be an early, highly specific finding in CS and highlights the importance of screening these patients for PTEN mutation.
|
28543709 |
2017 |
|
Hamartoma Syndrome, Multiple
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Management of women with breast cancer suspected of CS who test negative for germline PTEN mutations should be managed as per a mutation carrier if she meets CS diagnostic criteria, and should be offered enrollment in research to identify other predisposition genes.
|
26700035 |
2017 |
|
Hamartoma Syndrome, Multiple
|
1.000 |
Biomarker
|
disease |
BEFREE |
This study reveals the presence of a PTEN Alu insertion hotspot involved in CS, and suggests that undetected PTEN pathogenic variants could contribute to CS.
|
28513612 |
2017 |
|
Hamartoma Syndrome, Multiple
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome.
|
28677221 |
2017 |
|
Hamartoma Syndrome, Multiple
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We studied 34 different germline PTEN intronic variants from 61 CS patients, characterized their PTEN mRNA processing, and analyzed PTEN expression and downstream readouts of P-AKT and P-ERK1/2.
|
28677221 |
2017 |
|
Hamartoma Syndrome, Multiple
|
1.000 |
Biomarker
|
disease |
BEFREE |
Germline variants in succinate dehydrogenase genes (SDHx) co-occurring with PTEN germline mutations confer a 2-fold increased prevalence (OR 2.7) of thyroid cancer compared to PTEN-associated CS but 50% decreased prevalence (OR 0.54) of thyroid cancer compared to SDHx-associated CS.
|
28164237 |
2017 |
|
Hamartoma Syndrome, Multiple
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Immune dysregulation in patients with PTEN hamartoma tumor syndrome: Analysis of FOXP3 regulatory T cells.
|
27477328 |
2017 |
|
Hamartoma Syndrome, Multiple
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
When multiple, they are associated with Cowden syndrome (CS), a rare disorder due to an autosomal dominant germline mutation in PTEN (phosphatase and tensin homolog on chromosome 10), a tumor suppressor gene.
|
27683091 |
2017 |