Condition: Pten Hamartoma Tumor Syndrome With Granular Cell Tumor


rs1064793345 in PTEN gene and Pten Hamartoma Tumor Syndrome With Granular Cell Tumor PMID 22252256 2012 Lifetime cancer risks in individuals with germline PTEN mutations.

PMID 22595938 2012 Estimate of de novo mutation frequency in probands with PTEN hamartoma tumor syndrome.

PMID 28677221 2017 Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome.

PMID 23470840 2013 Cognitive characteristics of PTEN hamartoma tumor syndromes.

PMID 9259288 1997 Germline mutations in the PTEN/MMAC1 gene in patients with Cowden disease.

PMID 22266152 2012 Autoimmunity, intestinal lymphoid hyperplasia, and defects in mucosal B-cell homeostasis in patients with PTEN hamartoma tumor syndrome.

PMID 21956414 2011 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.

PMID 10353779 1999 Phenotypic findings of Cowden syndrome and Bannayan-Zonana syndrome in a family associated with a single germline mutation in PTEN.

PMID 23475934 2013 Cowden syndrome-related mutations in PTEN associate with enhanced proteasome activity.

PMID 10468583 1999 The tumor-suppressor activity of PTEN is regulated by its carboxyl-terminal region.

PMID 9399897 1997 Inherited mutations in PTEN that are associated with breast cancer, cowden disease, and juvenile polyposis.

PMID 10749983 2000 Germline and germline mosaic PTEN mutations associated with a Proteus-like syndrome of hemihypertrophy, lower limb asymmetry, arteriovenous malformations and lipomatosis.

PMID 25756585 2015 Malignant peripheral nerve sheath tumor in cowden syndrome: a first report.

PMID 24778394 2014 Second malignant neoplasms in patients with Cowden syndrome with underlying germline PTEN mutations.

PMID 21659347 2011 Predicting PTEN mutations: an evaluation of Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome clinical features.

PMID 11476841 2001 Association of germline mutation in the PTEN tumour suppressor gene and Proteus and Proteus-like syndromes.

PMID 1097835 1975 Appendectomy, tonsillectomy, and neoplasia.

PMID 16007494 2005 Analysis of PTEN gene mutations in Korean patients with Cowden syndrome and polyposis syndrome.

PMID 25669429 2015 KLLN epigenotype-phenotype associations in Cowden syndrome.

PMID 28475857 2017 Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability.

PMID 22628360 2012 PTEN hamartoma tumor syndrome and Gorham-Stout phenomenon.

PMID 17526800 2007 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.

PMID 10400993 1999 PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome.

PMID 26681312 2016 Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.

PMID 24375884 2014 Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations.

PMID 27477328 2017 Immune dysregulation in patients with PTEN hamartoma tumor syndrome: Analysis of FOXP3 regulatory T cells.

PMID 21828076 2011 A comprehensive functional analysis of PTEN mutations: implications in tumor- and autism-related syndromes.

PMID 22261759 2012 Elevated plasma succinate in PTEN, SDHB, and SDHD mutation-positive individuals.

PMID 14566704 2003 Germline inactivation of PTEN and dysregulation of the phosphoinositol-3-kinase/Akt pathway cause human Lhermitte-Duclos disease in adults.

PMID 17942903 2007 In vivo functional analysis of the counterbalance of hyperactive phosphatidylinositol 3-kinase p110 catalytic oncoproteins by the tumor suppressor PTEN.