Condition: PTEN Hamartoma Tumor Syndrome


rs587776671 in KLLN;PTEN gene and PTEN Hamartoma Tumor Syndrome PMID 10777358 2000 A novel 5' (4041insA) mutation in a patient with numerous manifestations of Cowden disease.

rs1057517809 in PTEN gene and PTEN Hamartoma Tumor Syndrome PMID 27535533 2016 Analysis of protein-coding genetic variation in 60,706 humans.

PMID 28086757 2017 A combination of genetic and biochemical analyses for the diagnosis of PI3K-AKT-mTOR pathway-associated megalencephaly.

PMID 29706350 2018 A Saturation Mutagenesis Approach to Understanding PTEN Lipid Phosphatase Activity and Genotype-Phenotype Relationships.

PMID 9467011 1998 Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome, two hamartoma syndromes with germline PTEN mutation.

PMID 21194675 2011 A clinical scoring system for selection of patients for PTEN mutation testing is proposed on the basis of a prospective study of 3042 probands.

PMID 20712882 2010 Molecular apocrine differentiation is a common feature of breast cancer in patients with germline PTEN mutations.

PMID 11238682 2001 Male breast cancer in Cowden syndrome patients with germline PTEN mutations.

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

PMID 12614768 2003 Retinal angioma in a patient with Cowden disease.

PMID 10866302 2000 Functional evaluation of PTEN missense mutations using in vitro phosphoinositide phosphatase assay.

PMID 23399955 2013 Prevalence of germline PTEN, BMPR1A, SMAD4, STK11, and ENG mutations in patients with moderate-load colorectal polyps.

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

PMID 27531073 2016 Increased PI3K/Akt activity and deregulated humoral immune response in human PTEN deficiency.

PMID 23335809 2013 High cumulative risks of cancer in patients with PTEN hamartoma tumour syndrome.

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 19265751 2009 The prevalence of PTEN mutations in a clinical pediatric cohort with autism spectrum disorders, developmental delay, and macrocephaly.

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

PMID 28526761 2017 A retrospective chart review of the features of PTEN hamartoma tumour syndrome in children.

PMID 11052475 2000 Analysis of the PTEN gene mutation in polyposis syndromes and sporadic gastrointestinal tumors in Japanese patients.

PMID 19968660 2010 Synchronous bilateral breast carcinoma in a patient with cowden syndrome: a case report with morphologic, immunohistochemical and genetic analysis.

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

PMID 17286265 2007 Increasing knowledge of PTEN germline mutations: Two additional patients with autism and macrocephaly.

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 11071384 2000 Association of splicing defects in PTEN leading to exon skipping or partial intron retention in Cowden syndrome.

PMID 17526801 2007 The spectrum of vascular anomalies in patients with PTEN mutations: implications for diagnosis and management.

PMID 10234502 1999 Novel PTEN mutations in patients with Cowden disease: absence of clear genotype-phenotype correlations.

PMID 23470840 2013 Cognitive characteristics of PTEN hamartoma tumor syndromes.

PMID 9140396 1997 Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrome.

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

PMID 9241266 1997 Germline mutations in PTEN are present in Bannayan-Zonana syndrome.

PMID 18558293 2008 A novel mutation of the PTEN gene in a Japanese patient with Cowden syndrome and bilateral breast cancer.

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

PMID 10920277 2000 Mutation analysis of the PTEN / MMAC1 gene in Japanese patients with Cowden disease.

PMID 8071972 1994 Cowden syndrome and Lhermitte-Duclos disease in a family: a single genetic syndrome with pleiotropy?

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 9256433 1997 P-TEN, the tumor suppressor from human chromosome 10q23, is a dual-specificity phosphatase.

PMID 20194734 2010 Allele-specific tumor spectrum in pten knockin mice.

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

PMID 10555148 1999 Crystal structure of the PTEN tumor suppressor: implications for its phosphoinositide phosphatase activity and membrane association.

PMID 17324556 2007 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.

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

PMID 28655553 2018 Variant discovery in patients with Mendelian vascular anomalies by next-generation sequencing and their use in patient clinical management.

PMID 16773562 2006 Distinct expression profiles for PTEN transcript and its splice variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome.

PMID 10848731 2000 A novel PTEN mutation in a Japanese patient with Cowden disease.

PMID 24345843 2014 Increased prevalence of eosinophilic gastrointestinal disorders in pediatric PTEN hamartoma tumor syndromes.

PMID 9856571 1998 Germline PTEN mutation in a family with Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome.

PMID 25875300 2015 A functional dissection of PTEN N-terminus: implications in PTEN subcellular targeting and tumor suppressor activity.

PMID 9425889 1998 PTEN germ-line mutations in juvenile polyposis coli.

PMID 9832032 1998 Mutations of PTEN in patients with Bannayan-Riley-Ruvalcaba phenotype.

PMID 11875759 2002 Protean PTEN: form and function.

PMID 22327138 2012 Cortical dysplasia associated with the PTEN mutation in Bannayan Riley Ruvalcaba syndrome: a rare finding.

PMID 21822720 2011 Acinic cell carcinoma of the retromolar trigone region: expanding the tumor phenotype in Cowden syndrome?

PMID 19457929 2009 Germline and somatic cancer-associated mutations in the ATP-binding motifs of PTEN influence its subcellular localization and tumor suppressive function.

PMID 25527629 2015 Functionally distinct groups of inherited PTEN mutations in autism and tumour syndromes.

PMID 26798346 2015 Cowden Syndrome and Concomitant Pulmonary Neuroendocrine Tumor: A Presentation of Two Cases.

PMID 9915974 1999 Variant manifestation of Cowden disease in Japan: hamartomatous polyposis of the digestive tract with mutation of the PTEN gene.

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

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

PMID 23442912 2013 Defining the membrane-associated state of the PTEN tumor suppressor protein.

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

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

PMID 1097835 1975 Appendectomy, tonsillectomy, and neoplasia.

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

PMID 11748304 2001 A novel germline mutation of the PTEN gene in a patient with macrocephaly, ventricular dilatation, and features of VATER association.

PMID 29373119 2018 Nuclear Excluded Autism-Associated Phosphatase and Tensin Homolog Mutations Dysregulate Neuronal Growth.

PMID 26579216 2015 Cytoplasm-predominant Pten associates with increased region-specific brain tyrosine hydroxylase and dopamine D2 receptors in mouse model with autistic traits.

PMID 25647146 2015 Conformational stability and catalytic activity of PTEN variants linked to cancers and autism spectrum disorders.

PMID 20718038 2010 A mutant form of PTEN linked to autism.

PMID 29785012 2018 Multiplex assessment of protein variant abundance by massively parallel sequencing.

PMID 15805158 2005 Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations.

PMID 29706633 2018 A pathogenic role for germline PTEN variants which accumulate into the nucleus.

PMID 16752378 2006 A germline PTEN mutation with manifestations of prenatal onset and verrucous epidermal nevus.

PMID 25288137 2015 Molecular and phenotypic abnormalities in individuals with germline heterozygous PTEN mutations and autism.

PMID 20600018 2010 Frequent gastrointestinal polyps and colorectal adenocarcinomas in a prospective series of PTEN mutation carriers.

PMID 20962022 2011 Thyroid nodules and cancer in children with PTEN hamartoma tumor syndrome.

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

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

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

PMID 20533527 2010 Confirmation study of PTEN mutations among individuals with autism or developmental delays/mental retardation and macrocephaly.

PMID 9619835 1998 PTEN mutations in gliomas and glioneuronal tumors.

PMID 23633456 2013 PIK3CA and PTEN gene and exon mutation-specific clinicopathologic and molecular associations in colorectal cancer.

PMID 26362251 2015 A systematic screening to identify de novo mutations causing sporadic early-onset Parkinson's disease.

PMID 9288766 1997 Mutation analysis of the putative tumor suppressor gene PTEN/MMAC1 in primary breast carcinomas.

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

PMID 24102544 2014 PTEN inactivation by germline/somatic c.950_953delTACT mutation in patients with Lhermitte-Duclos disease manifesting progressive phenotypes.

PMID 24641667 2014 Systemic lupus erythematosus in a patient with PTEN hamartoma tumour syndrome.

PMID 26246517 2015 Cowden's syndrome with immunodeficiency.

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

PMID 25246819 2014 Cowden syndrome presenting as breast cancer: imaging and clinical features.

PMID 11918710 2002 PTEN mutations in eight Spanish families and one Brazilian family with Cowden syndrome.

PMID 21194575 2011 Lung disease in FLNA mutation: confirmatory report.

PMID 23160955 2012 Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders.

PMID 20926450 2011 Naturally occurring germline and tumor-associated mutations within the ATP-binding motifs of PTEN lead to oxidative damage of DNA associated with decreased nuclear p53.

PMID 9600246 1998 The genetic basis of Cowden's syndrome: three novel mutations in PTEN/MMAC1/TEP1.

PMID 25722288 2015 PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia.

PMID 16704655 2006 Epidermal naevus in Proteus syndrome showing loss of heterozygosity for an inherited PTEN mutation.

PMID 21103832 2011 A novel PTEN mutation in a Korean patient with Cowden syndrome and vascular anomalies.

PMID 17873119 2007 High proportion of large genomic deletions and a genotype phenotype update in 80 unrelated families with juvenile polyposis syndrome.

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

PMID 12471211 2002 Germline mutation of the tumour suppressor PTEN in Proteus syndrome.

PMID 10232405 1999 Identification of PTEN mutations in five families with Bannayan-Zonana syndrome.

PMID 15372512 2004 Mutation analysis of the tumor suppressor PTEN and the glypican 3 (GPC3) gene in patients diagnosed with Proteus syndrome.

PMID 23423780 2013 Autosomal Dominant Inherited Cowden's Disease in a Family.

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

PMID 23934111 2013 De novo mutations in epileptic encephalopathies.

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

PMID 10076877 1999 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).

PMID 16894538 2006 Bannayan-Riley-Ruvalcaba syndrome with reactive nodular lymphoid hyperplasia and autism and a PTEN mutation.

PMID 17392703 2007 Segmental overgrowth, lipomatosis, arteriovenous malformation and epidermal nevus (SOLAMEN) syndrome is related to mosaic PTEN nullizygosity.

PMID 24498881 2014 A novel deleterious PTEN mutation in a patient with early-onset bilateral breast cancer.

PMID 14675182 2003 A novel loss-of-function mutation (N48K) in the PTEN gene in a Spanish patient with Cowden disease.

PMID 23886400 2013 Differential expression of PTEN gene correlates with phenotypic heterogeneity in three cases of patients showing clinical manifestations of PTEN hamartoma tumour syndrome.

PMID 25418537 2014 Recurrent de novo mutations implicate novel genes underlying simplex autism risk.

PMID 9735393 1998 Novel mutation of the PTEN gene in an Italian Cowden's disease kindred.

PMID 17043057 2006 PTEN c.511C>T nonsense mutation in a BRRS family disrupts a potential exonic splicing enhancer and causes exon skipping.

PMID 24379037 2013 Thyroid involvement in two patients with Bannayan-Riley-Ruvalcaba syndrome.

PMID 16021145 2005 Cowden disease in a family: a clinical and genetic diagnosis.

PMID 26185318 2015 Thyroid Pathology Findings in Cowden Syndrome: A Clue for the Diagnosis of the PTEN Hamartoma Tumor Syndrome.

rs587781912 in PTEN;KLLN gene and PTEN Hamartoma Tumor Syndrome PMID 20223021 2006 Germline PTEN mutations are rare and highly penetrant.

PMID 17898811 2007 Germline mutations in PTEN and SDHC in a woman with epithelial thyroid cancer and carotid paraganglioma.

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 20600018 2010 Frequent gastrointestinal polyps and colorectal adenocarcinomas in a prospective series of PTEN mutation carriers.

PMID 21194675 2011 A clinical scoring system for selection of patients for PTEN mutation testing is proposed on the basis of a prospective study of 3042 probands.

PMID 16773562 2006 Distinct expression profiles for PTEN transcript and its splice variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome.

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