×
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
Neoplastic Syndromes, Hereditary
0.160
GeneticVariation
CLINVAR
Mutational abrogation of the PTEN/MMAC1 gene in gastrointestinal polyps in patients with Cowden disease.
9797362 1998
×
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
GeneticVariation
CLINVAR
A comprehensive functional analysis of PTEN mutations: implications in tumor- and autism-related syndromes.
21828076 2011
×
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
Neoplastic Syndromes, Hereditary
0.160
GeneticVariation
CLINVAR
Cowden's syndrome with immunodeficiency.
26246517 2015
×
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
Neoplastic Syndromes, Hereditary
0.160
GeneticVariation
CLINVAR
The spectrum of vascular anomalies in patients with PTEN mutations: implications for diagnosis and management.
17526801 2007
×
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
GeneticVariation
CLINVAR
Cowden syndrome and Bannayan Riley Ruvalcaba syndrome represent one condition with variable expression and age-related penetrance: results of a clinical study of PTEN mutation carriers.
17526800 2007
×
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
GeneticVariation
CLINVAR
Cancer risk and genotype-phenotype correlations in PTEN hamartoma tumor syndrome.
23934601 2014
×
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
GeneticVariation
CLINVAR
Incidence and clinical characteristics of thyroid cancer in prospective series of individuals with Cowden and Cowden-like syndrome characterized by germline PTEN, SDH, or KLLN alterations.
21956414 2011
×
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
Neoplastic Syndromes, Hereditary
0.160
GeneticVariation
CLINVAR
A unique spectrum of somatic PIK3CA (p110alpha) mutations within primary endometrial carcinomas.
21266528 2011
×
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
Neoplastic Syndromes, Hereditary
0.160
GeneticVariation
CLINVAR
A novel loss-of-function mutation (N48K) in the PTEN gene in a Spanish patient with Cowden disease.
14675182 2003
×
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
GeneticVariation
CLINVAR
PTEN catalysis of phospholipid dephosphorylation reaction follows a two-step mechanism in which the conserved aspartate-92 does not function as the general acid--mechanistic analysis of a familial Cowden disease-associated PTEN mutation.
17324556 2007
×
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
Neoplastic Syndromes, Hereditary
0.160
GeneticVariation
CLINVAR
Prevalence of germline PTEN, BMPR1A, SMAD4, STK11, and ENG mutations in patients with moderate-load colorectal polyps.
23399955 2013