Condition: Hamartoma Syndrome, Multiple


rs1554890324 in KLLN;PTEN gene and Hamartoma Syndrome, Multiple 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 24498881 2014 A novel deleterious PTEN mutation in a patient with early-onset bilateral breast cancer.

PMID 22503188 2012 Challenges in the management of a patient with Cowden syndrome: case report and literature review.

rs1057519942 in PIK3CA gene and Hamartoma Syndrome, Multiple PMID 27631024 2016 PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution.

PMID 18829572 2008 PIK3CA cooperates with other phosphatidylinositol 3'-kinase pathway mutations to effect oncogenic transformation.

PMID 22729224 2012 De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes.

PMID 17376864 2007 Rare cancer-specific mutations in PIK3CA show gain of function.

PMID 15930273 2005 Functional analysis of PIK3CA gene mutations in human colorectal cancer.

PMID 22120714 2012 Regulation of lipid binding underlies the activation mechanism of class IA PI3-kinases.

rs1057517809 in PTEN gene and Hamartoma Syndrome, Multiple PMID 27477328 2017 Immune dysregulation in patients with PTEN hamartoma tumor syndrome: Analysis of FOXP3 regulatory T cells.

PMID 25394175 2015 A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment.

PMID 15604628 2004 Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors.

PMID 24493721 2014 American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology providers.

PMID 29043291 2017 Fibroblastic Polyps: A Novel Polyp Subtype in Cowden Syndrome.

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

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

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

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

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 10051160 1999 Severe Lhermitte-Duclos disease with unique germline mutation of PTEN.

PMID 15355975 2004 Regulation of PTEN phosphorylation and stability by a tumor suppressor candidate protein.

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

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

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

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

PMID 11494117 2001 Rapid mutation scanning of genes associated with familial cancer syndromes using denaturing high-performance liquid chromatography.

PMID 18716620 2008 The deubiquitinylation and localization of PTEN are regulated by a HAUSP-PML network.

PMID 11230179 2001 PTEN coordinates G(1) arrest by down-regulating cyclin D1 via its protein phosphatase activity and up-regulating p27 via its lipid phosphatase activity in a breast cancer model.

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

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

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

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

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

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

PMID 9832031 1998 Germline PTEN mutations in Cowden syndrome-like families.

PMID 9811831 1998 Here we report that a missense mutation in PTEN, PTEN-G129E, which is observed in two Cowden disease kindreds, specifically ablates the ability of PTEN to recognize inositol phospholipids as a substrate, suggesting that loss of the lipid phosphatase activity is responsible for the etiology of the disease.

PMID 9345101 1997 The role of MMAC1 mutations in early-onset breast cancer: causative in association with Cowden syndrome and excluded in BRCA1-negative cases.

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

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

PMID 10923032 2000 Mutations of the human PTEN gene.

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

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 9811831 1998 The lipid phosphatase activity of PTEN is critical for its tumor supressor function.

PMID 23470840 2013 Cognitive characteristics of PTEN hamartoma tumor syndromes.

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

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 10353779 1999 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.

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 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.

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

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 17167516 2007 Cancer phenomics: RET and PTEN as illustrative models.

PMID 23613428 2013 When overgrowth bumps into cancer: the PTEN-opathies.

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

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 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 19719509 2010 Lhermitte-Duclos disease caused by a novel germline PTEN mutation R173P in a patient presenting with psychosis.

PMID 18080326 2008 Bannayan-Riley-Ruvalcaba syndrome with posterior subcapsular congenital cataract and a consensus sequence splicing PTEN mutation.

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

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

PMID 23117110 2013 Duodenal carcinoma in a 37-year-old man with Cowden/Bannayan syndrome.

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

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

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

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

PMID 10698513 2000 Inhibition of H-Ras transformation by the PTEN/MMAC1/TEP1 tumor suppressor gene.

PMID 24905788 2014 PTEN.

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

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

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

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

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 22520842 2012 "Beta catenin and cytokine pathway dysregulation in patients with manifestations of the ""PTEN hamartoma tumor syndrome""."

PMID 22281088 2012 Clinicopathologic and molecular analysis of a choroidal pigmented schwannoma in the context of a PTEN hamartoma tumor syndrome.

PMID 10848731 2000 To the best of our knowledge, the C136R mutation has not previously been reported in CD patients.

PMID 25336918 2014 Posttranslational regulation of phosphatase and tensin homolog (PTEN) and its functional impact on cancer behaviors.

PMID 12297295 2002 Direct identification of PTEN phosphorylation sites.

PMID 11035045 2001 The tumor suppressor PTEN is phosphorylated by the protein kinase CK2 at its C terminus. Implications for PTEN stability to proteasome-mediated degradation.

PMID 25448482 2015 Kinases, tails and more: regulation of PTEN function by phosphorylation.

PMID 10866658 2000 Phosphorylation of the PTEN tail regulates protein stability and function.

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

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

PMID 16619501 2006 Tumour suppressor PTEN regulates cell cycle and protein kinase B/Akt pathway in breast cancer cells.

PMID 10772829 2000 Cell cycle arrest by the PTEN tumor suppressor is target cell specific and may require protein phosphatase activity.

PMID 21291452 2012 PTEN in colorectal cancer: a report on two Cowden syndrome patients.

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

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