Variant: rs121909229 

    present in Gene: PTEN
    present in Chromosome: 10
    Position on Chromosome: 87933148
    Alleles of this Variant: G/A;C;T

rs121909229 in PTEN gene and Adenocarcinoma of prostate PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs121909229 in PTEN gene and Colorectal Neoplasms PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs121909229 in PTEN gene and Cutaneous Melanoma PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs121909229 in PTEN gene and Gastric Adenocarcinoma PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs121909229 in PTEN gene and Glioblastoma PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs121909229 in PTEN gene and Hamartoma Syndrome, Multiple PMID 9600246 1998 The genetic basis of Cowden's syndrome: three novel mutations in PTEN/MMAC1/TEP1.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

rs121909229 in PTEN gene and Malignant Uterine Corpus Neoplasm PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs121909229 in PTEN gene and Mammary Neoplasms PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs121909229 in PTEN gene and Neoplasms PMID 25157968 2014 Prospective enterprise-level molecular genotyping of a cohort of cancer patients.

rs121909229 in PTEN gene and Neoplastic Syndromes, Hereditary PMID 9467011 1998 Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome, two hamartoma syndromes with germline PTEN mutation.

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

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

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

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

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

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

PMID 22320991 2011 Genetic changes in the PTEN gene and their association with breast cancer in Pakistan.

PMID 23470840 2013 Cognitive characteristics of PTEN hamartoma tumor syndromes.

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

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

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

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

PMID 20300775 2010 PTEN mutation spectrum in breast cancers and breast hyperplasia.

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

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

rs121909229 in PTEN gene and PTEN Hamartoma Tumor Syndrome PMID 17526801 2007 The spectrum of vascular anomalies in patients with PTEN mutations: implications for diagnosis and management.

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

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

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

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

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

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

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

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

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

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

PMID 23470840 2013 Cognitive characteristics of PTEN hamartoma tumor syndromes.

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

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

rs121909229 in PTEN gene and Renal Cell Carcinoma PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs121909229 in PTEN gene and Small cell carcinoma of lung PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs121909229 in PTEN gene and Squamous cell carcinoma of lung PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs121909229 in PTEN gene and Squamous cell carcinoma of the head and neck PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs121909229 in PTEN gene and Uterine Carcinosarcoma PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs121909229 in PTEN gene and Uterine Cervical Neoplasm PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs121909229 in PTEN gene and ovarian neoplasm PMID 20085938 2010 The PI3K pathway as drug target in human cancer.

PMID 11504908 2001 Enhanced sensitivity of PTEN-deficient tumors to inhibition of FRAP/mTOR.

PMID 18767981 2009 PTEN and the PI3-kinase pathway in cancer.