×
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
Neoplastic Syndromes, Hereditary
0.160
CausalMutation
CLINVAR
Endometrial cancer in an adolescent: a possible manifestation of Cowden syndrome.
19622968 2009
×
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
Neoplastic Syndromes, Hereditary
0.160
CausalMutation
CLINVAR
PTEN: one gene, many syndromes.
12938083 2003
×
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
Neoplastic Syndromes, Hereditary
0.160
CausalMutation
CLINVAR
Immune dysregulation in patients with PTEN hamartoma tumor syndrome: Analysis of FOXP3 regulatory T cells.
27477328 2017
×
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
Neoplastic Syndromes, Hereditary
0.160
CausalMutation
CLINVAR
Functional evaluation of PTEN missense mutations using in vitro phosphoinositide phosphatase assay.
10866302 2000
×
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
Neoplastic Syndromes, Hereditary
0.160
CausalMutation
CLINVAR
Elevated plasma succinate in PTEN, SDHB, and SDHD mutation-positive individuals.
22261759 2012
×
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
Neoplastic Syndromes, Hereditary
0.160
CausalMutation
CLINVAR
Lifetime cancer risks in individuals with germline PTEN mutations.
22252256 2012
×
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
Neoplastic Syndromes, Hereditary
0.160
CausalMutation
CLINVAR
Genetic changes in the PTEN gene and their association with breast cancer in Pakistan.
22320991 2011
×
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
Neoplastic Syndromes, Hereditary
0.160
CausalMutation
CLINVAR
Association of splicing defects in PTEN leading to exon skipping or partial intron retention in Cowden syndrome.
11071384 2000
×
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
Neoplastic Syndromes, Hereditary
0.160
CausalMutation
CLINVAR
Variant manifestation of Cowden disease in Japan: hamartomatous polyposis of the digestive tract with mutation of the PTEN gene.
9915974 1999
×
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
Neoplastic Syndromes, Hereditary
0.160
CausalMutation
CLINVAR
Cortical dysplasia associated with the PTEN mutation in Bannayan Riley Ruvalcaba syndrome: a rare finding.
22327138 2012
×
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
Neoplastic Syndromes, Hereditary
0.160
CausalMutation
CLINVAR
Chiari I malformation in a child with PTEN hamartoma tumor syndrome: Association or coincidence?
28286253 2017
×
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
Neoplastic Syndromes, Hereditary
0.160
CausalMutation
CLINVAR
PTEN in colorectal cancer: a report on two Cowden syndrome patients.
21291452 2012
×
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
Neoplastic Syndromes, Hereditary
0.160
CausalMutation
CLINVAR
Papillary renal cell carcinoma is associated with PTEN hamartoma tumor syndrome.
22381246 2012
×
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
Neoplastic Syndromes, Hereditary
0.160
CausalMutation
CLINVAR
The spectrum and evolution of phenotypic findings in PTEN mutation positive cases of Bannayan-Riley-Ruvalcaba syndrome.
11332402 2001
×
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
Neoplastic Syndromes, Hereditary
0.160
CausalMutation
CLINVAR
Long-chain L 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency does not appear to be the primary cause of lipid myopathy in patients with Bannayan-Riley-Ruvalcaba syndrome (BRRS).
10076877 1999
×
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
Neoplastic Syndromes, Hereditary
0.160
CausalMutation
CLINVAR
Functionally distinct groups of inherited PTEN mutations in autism and tumour syndromes.
25527629 2015
×
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
Neoplastic Syndromes, Hereditary
0.160
CausalMutation
CLINVAR
Inherited mutations in PTEN that are associated with breast cancer, cowden disease, and juvenile polyposis.
9399897 1997
×
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
Neoplastic Syndromes, Hereditary
0.160
CausalMutation
CLINVAR
A clinical scoring system for selection of patients for PTEN mutation testing is proposed on the basis of a prospective study of 3042 probands.
21194675 2011
×
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
Neoplastic Syndromes, Hereditary
0.160
CausalMutation
CLINVAR
Thyroid nodules and cancer in children with PTEN hamartoma tumor syndrome.
20962022 2011
×
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
Neoplastic Syndromes, Hereditary
0.160
CausalMutation
CLINVAR
Germline mutations in the PTEN/MMAC1 gene in patients with Cowden disease.
9259288 1997
×
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
Neoplastic Syndromes, Hereditary
0.160
CausalMutation
CLINVAR
Disruption of epithelial architecture caused by loss of PTEN or by oncogenic mutant p110α/PIK3CA but not by HER2 or mutant AKT1.
23085752 2013
×
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
Neoplastic Syndromes, Hereditary
0.160
CausalMutation
CLINVAR
Different splicing defects lead to differential effects downstream of the lipid and protein phosphatase activities of PTEN.
16014636 2005
×
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
Neoplastic Syndromes, Hereditary
0.160
CausalMutation
CLINVAR
Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome.
28677221 2017
×
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
Neoplastic Syndromes, Hereditary
0.160
CausalMutation
CLINVAR
"Beta catenin and cytokine pathway dysregulation in patients with manifestations of the ""PTEN hamartoma tumor syndrome""."
22520842 2012
×
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
Neoplastic Syndromes, Hereditary
0.160
CausalMutation
CLINVAR
Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome, two hamartoma syndromes with germline PTEN mutation.
9467011 1998