PTEN Hamartoma Tumor Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
She tested positive for PTEN hamartoma tumor syndrome with a pathogenic variant at c.388 C > T. The PTEN mutation was also identified in the sclerosing pneumocytoma.
|
31166879 |
2020 |
PTEN Hamartoma Tumor Syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
In the context of PTEN hamartoma tumor syndrome (PHTS), this AST is referred to as PTEN hamartoma of soft tissue.
|
31630434 |
2020 |
PTEN Hamartoma Tumor Syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
Comparison of the immune phenotype caused by PTEN haploinsufficiency in PHTS, phosphoinositide 3-kinase (PI3K) gain-of-function in activated PI3K syndrome, and mice with conditional biallelic <i>Pten</i> deletion suggests a threshold model in which coordinated activity of several phosphatases control the PI3K signaling in a cell-type-specific manner.
|
31501268 |
2019 |
PTEN Hamartoma Tumor Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Germline pathogenic PTEN mutations cause PTEN hamartoma tumor syndrome (PHTS), featuring various benign and malignant tumors, as well as neurodevelopmental disorders such as autism spectrum disorder.
|
30614812 |
2019 |
PTEN Hamartoma Tumor Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The PTEN hamartoma tumor syndrome (PHTS) is caused by heterozygous germline variants in PTEN.
|
31062505 |
2019 |
PTEN Hamartoma Tumor Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Here, we aim to assess the effect of PTEN mutations on innate immune cell function in PHTS patients, especially in the context of TC, using a unique ex vivo model.
|
30670777 |
2019 |
PTEN Hamartoma Tumor Syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
The phosphatase and tensin homolog (<i>PTEN)</i> hamartoma tumor syndrome (PHTS) is a grouping of related genetic disorders that has been linked to germline mutations in the <i>PTEN</i> gene.
|
31216739 |
2019 |
PTEN Hamartoma Tumor Syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
This report shows that mosaic alteration of PTEN may result in multiple central and peripheral nervous system hamartomas and that the presence of such alteration should be considered in patients with multiple nervous system masses, even in the absence of cardinal features of PTEN hamartoma tumor syndrome, especially macrocephaly.
|
31796102 |
2019 |
PTEN Hamartoma Tumor Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Individuals with germline mutations in the tumor suppressor gene phosphatase and tensin homolog (PTEN), irrespective of clinical presentation, are diagnosed with PTEN hamartoma tumor syndrome (PHTS).
|
29663862 |
2019 |
PTEN Hamartoma Tumor Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The tumour suppressor PTEN is frequently downregulated, mutated or lost in several types of tumours and congenital disorders including PHTS (PTEN Hamartoma Tumour Syndrome) and ASD (Autism Spectrum Disorder).
|
31779149 |
2019 |
PTEN Hamartoma Tumor Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The clinical diagnosis of PHTS was consequently corroborated by a germline PTEN deletion.
|
30111295 |
2018 |
PTEN Hamartoma Tumor Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Patients with heritable cancer syndromes characterized by germline PTEN mutations (termed PTEN hamartoma tumor syndrome, PHTS) benefit from PTEN-enabled cancer risk assessment and clinical management.
|
29684080 |
2018 |
PTEN Hamartoma Tumor Syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Variant discovery in patients with Mendelian vascular anomalies by next-generation sequencing and their use in patient clinical management.
|
28655553 |
2018 |
PTEN Hamartoma Tumor Syndrome
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
A Saturation Mutagenesis Approach to Understanding PTEN Lipid Phosphatase Activity and Genotype-Phenotype Relationships.
|
29706350 |
2018 |
PTEN Hamartoma Tumor Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Germline exome sequencing revealed a missense mutation of PTEN (p.Arg234Gln), a rare variant with a reported association with cancer development but not with other PHTS phenotypes.
|
28755079 |
2018 |
PTEN Hamartoma Tumor Syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Nuclear Excluded Autism-Associated Phosphatase and Tensin Homolog Mutations Dysregulate Neuronal Growth.
|
29373119 |
2018 |
PTEN Hamartoma Tumor Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Germline PTEN mutations are also associated with a range of clinical outcomes, including PTEN hamartoma tumor syndrome (PHTS) and autism spectrum disorder (ASD).
|
29706350 |
2018 |
PTEN Hamartoma Tumor Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The segmental nature of her storiform collagenomas is unique, to our knowledge, and may be explained by a postzygotic second-hit PTEN mutation, contributing to the growing spectrum of clinical findings associated with PTEN hamartoma tumor syndrome.
|
29806868 |
2018 |
PTEN Hamartoma Tumor Syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
These partial losses of multiple PTEN biochemical functions may contribute to the tissue overgrowth and autistic features of this PHTS patient.Autism Res 2018, 11: 1098-1109.
|
29608813 |
2018 |
PTEN Hamartoma Tumor Syndrome
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Multiplex assessment of protein variant abundance by massively parallel sequencing.
|
29785012 |
2018 |
PTEN Hamartoma Tumor Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Here, we have functionally characterized a PTEN missense variant [c.49C>G; p.(Gln17Glu); Q17E] associated to both PHTS and ASD patients.
|
29706633 |
2018 |
PTEN Hamartoma Tumor Syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Multiplex assessment of protein variant abundance by massively parallel sequencing.
|
29785012 |
2018 |
PTEN Hamartoma Tumor Syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
A Saturation Mutagenesis Approach to Understanding PTEN Lipid Phosphatase Activity and Genotype-Phenotype Relationships.
|
29706350 |
2018 |
PTEN Hamartoma Tumor Syndrome
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
A pathogenic role for germline PTEN variants which accumulate into the nucleus.
|
29706633 |
2018 |
PTEN Hamartoma Tumor Syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
PTEN hamartoma of the soft tissue: the initial manifestation of an underlying PTEN hamartoma tumor syndrome in a 4-year-old female.
|
28756566 |
2017 |