|
rs121909218
|
|
Hamartoma Syndrome, Multiple
|
|
0.820 |
GeneticVariation
|
BEFREE |
G129E is a common germline PTEN mutations found in Cowden syndrome patients.
|
17324556 |
2007 |
|
rs121909218
|
|
Hamartoma Syndrome, Multiple
|
|
0.820 |
GeneticVariation
|
BEFREE |
A PTEN mutant associated with Cowden's disease (PTEN;G129E) has protein phosphatase activity yet is defective in dephosphorylating inositol 1,3,4,5-tetrakisphosphate in vitro and fails to arrest cells in G1.
|
10051603 |
1999 |
|
rs587782350
|
|
Hamartoma Syndrome, Multiple
|
|
0.810 |
GeneticVariation
|
BEFREE |
Enzyme activities were normal while the germline PTEN missense mutation P246L segregated with BRRS in this family.
|
10076877 |
1999 |
|
rs121909231
|
|
Hamartoma Syndrome, Multiple
|
|
0.730 |
GeneticVariation
|
BEFREE |
A PTEN mutation, c.1003C>T p.(Arg335Ter), was subsequently identified as the cause of Cowden syndrome in another family member (a nephew) with dysplastic gangliocytoma of the cerebellum (Lhermitte-Duclos disease), and genetic testing in the proband's daughter indicated that he was an obligate carrier of the mutation.
|
25756585 |
2015 |
|
rs121909231
|
|
Hamartoma Syndrome, Multiple
|
|
0.730 |
GeneticVariation
|
BEFREE |
We have identified a germline mutation, R335X, in PTEN in a family consisting of two female members with the phenotypic findings of CS and two male members with the phenotypic findings of BZS.
|
10353779 |
1999 |
|
rs121909231
|
|
Hamartoma Syndrome, Multiple
|
|
0.730 |
GeneticVariation
|
BEFREE |
While all the mutations we identified are novel in BZS, 1003C-->T (nonsense mutation) and 209+5G-->A (putative splice site mutation) have been previously reported in unrelated families with CS and Lhermitte Duclos disease.
|
10232405 |
1999 |
|
rs786201044
|
|
Hamartoma Syndrome, Multiple
|
|
0.710 |
GeneticVariation
|
BEFREE |
To the best of our knowledge, the C136R mutation has not previously been reported in CD patients.
|
10848731 |
2000 |
|
rs562015640
|
|
Hamartoma Syndrome, Multiple
|
|
0.710 |
GeneticVariation
|
BEFREE |
A lysine mutant of PTEN, K289E associated with Cowden syndrome, retains catalytic activity but fails to accumulate in nuclei of patient tissue due to an import defect.
|
17218261 |
2007 |
|
rs121909224
|
|
Hamartoma Syndrome, Multiple
|
|
0.710 |
GeneticVariation
|
BEFREE |
While the frameshift (375insTTTA) and the missense (Gly69Arg) mutations reported herein are novel in CS, the nonsense (Arg130stop) mutation has been described in 2 families with CS and in a single family exhibiting both CS and Bannayan Zonana phenotype.
|
10772390 |
2000 |
|
rs121909219
|
|
Hamartoma Syndrome, Multiple
|
|
0.710 |
GeneticVariation
|
BEFREE |
The germline DNA sequencing confirmed the clinical diagnosis of CS and revealed a PTEN mutation c.697C→T (p.R233*) causing a premature stop codon in exon 7.
|
26678657 |
2016 |
|
rs786204929
|
|
Hamartoma Syndrome, Multiple
|
|
0.010 |
GeneticVariation
|
BEFREE |
We report the case of a girl with Cowden syndrome (CS) presenting with unilateral perisylvian dysplasia and with drug resistant focal seizures carrying a novel missense mutation 385G>A (G129R) in the PTEN gene.
|
22469695 |
2012 |
|
rs762518389
|
|
Hamartoma Syndrome, Multiple
|
|
0.010 |
GeneticVariation
|
BEFREE |
Moreover, by functional analysis we found that the ability of PTEN N48K mutant protein to inhibit the activation of the proto-oncogene PKB/Akt was impaired, supporting the involvement of N48K mutation in Cowden disease.
|
14675182 |
2003 |
|
rs1085308048
|
|
Hamartoma Syndrome, Multiple
|
|
0.010 |
GeneticVariation
|
BEFREE |
This report describes a novel PTEN mutation (L139X) in a patient with Cowden disease and Sjögren's syndrome.
|
10193515 |
1998 |
|
rs121909218
|
|
Hamartoma Syndrome, Multiple
|
A |
0.820 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs587782350
|
|
Hamartoma Syndrome, Multiple
|
T |
0.810 |
GeneticVariation
|
CLINVAR |
Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.
|
26681312 |
2016 |
|
rs587782350
|
|
Hamartoma Syndrome, Multiple
|
T |
0.810 |
GeneticVariation
|
CLINVAR |
Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations.
|
24375884 |
2014 |
|
rs587782350
|
|
Hamartoma Syndrome, Multiple
|
T |
0.810 |
GeneticVariation
|
CLINVAR |
PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome.
|
10400993 |
1999 |
|
rs587782350
|
|
Hamartoma Syndrome, Multiple
|
T |
0.810 |
GeneticVariation
|
CLINVAR |
Elevated plasma succinate in PTEN, SDHB, and SDHD mutation-positive individuals.
|
22261759 |
2012 |
|
rs587782350
|
|
Hamartoma Syndrome, Multiple
|
T |
0.810 |
GeneticVariation
|
CLINVAR |
Immune dysregulation in patients with PTEN hamartoma tumor syndrome: Analysis of FOXP3 regulatory T cells.
|
27477328 |
2017 |
|
rs587782350
|
|
Hamartoma Syndrome, Multiple
|
T |
0.810 |
GeneticVariation
|
CLINVAR |
In vivo functional analysis of the counterbalance of hyperactive phosphatidylinositol 3-kinase p110 catalytic oncoproteins by the tumor suppressor PTEN.
|
17942903 |
2007 |
|
rs587782350
|
|
Hamartoma Syndrome, Multiple
|
T |
0.810 |
GeneticVariation
|
CLINVAR |
Germline inactivation of PTEN and dysregulation of the phosphoinositol-3-kinase/Akt pathway cause human Lhermitte-Duclos disease in adults.
|
14566704 |
2003 |
|
rs587782350
|
|
Hamartoma Syndrome, Multiple
|
T |
0.810 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs587782350
|
|
Hamartoma Syndrome, Multiple
|
T |
0.810 |
GeneticVariation
|
CLINVAR |
A comprehensive functional analysis of PTEN mutations: implications in tumor- and autism-related syndromes.
|
21828076 |
2011 |
|
rs398123317
|
|
Hamartoma Syndrome, Multiple
|
C |
0.800 |
GeneticVariation
|
CLINVAR |
|
|
|
|
rs121909229
|
|
Hamartoma Syndrome, Multiple
|
A |
0.800 |
CausalMutation
|
CLINVAR |
|
|
|