Variant: rs121909224 

    present in Gene: PTEN
    present in Chromosome: 10
    Position on Chromosome: 87933147
    Alleles of this Variant: C/G;T

rs121909224 in PTEN gene and Adenocarcinoma of prostate PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs121909224 in PTEN gene and Brain Neoplasms PMID 25157968 2014 Prospective enterprise-level molecular genotyping of a cohort of cancer patients.

PMID 11274365 2001 PTEN controls tumor-induced angiogenesis.

rs121909224 in PTEN gene and CEREBELLOPARENCHYMAL DISORDER VI PMID 23470840 2013 Cognitive characteristics of PTEN hamartoma tumor syndromes.

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

rs121909224 in PTEN gene and Cerebellar Granule Cell Hypertrophy and Megalencephaly PMID 9259288 1997 Germline mutations in the PTEN/MMAC1 gene in patients with Cowden disease.

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 23470840 2013 Cognitive characteristics of PTEN hamartoma tumor syndromes.

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

rs121909224 in PTEN gene and Colorectal Neoplasms PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs121909224 in PTEN gene and Cutaneous Melanoma PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs121909224 in PTEN gene and Gastric Adenocarcinoma PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs121909224 in PTEN gene and Glioblastoma PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs121909224 in PTEN gene and Hamartoma Syndrome, Multiple PMID 23470840 2013 Cognitive characteristics of PTEN hamartoma tumor syndromes.

PMID 10923032 2000 Mutations of the human PTEN gene.

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

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

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

rs121909224 in PTEN gene and Lhermitte-Duclos disease 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 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.

rs121909224 in PTEN gene and Malignant Uterine Corpus Neoplasm PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs121909224 in PTEN gene and Malignant neoplasm of floor of mouth PMID 25157968 2014 Prospective enterprise-level molecular genotyping of a cohort of cancer patients.

PMID 21824802 2011 Mutational analysis of PTEN/PIK3CA/AKT pathway in oral squamous cell carcinoma.

rs121909224 in PTEN gene and Mammary Neoplasms PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs121909224 in PTEN gene and Neoplastic Syndromes, Hereditary PMID 9259288 1997 Germline mutations in the PTEN/MMAC1 gene in patients with Cowden disease.

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 22381246 2012 Papillary renal cell carcinoma is associated with PTEN hamartoma tumor syndrome.

PMID 23934601 2014 Cancer risk and genotype-phenotype correlations in PTEN hamartoma tumor syndrome.

PMID 23764071 2013 Germline PTEN mutation Cowden syndrome: an underappreciated form of hereditary kidney cancer.

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

PMID 23470840 2013 Cognitive characteristics of PTEN hamartoma tumor syndromes.

rs121909224 in PTEN gene and PTEN Hamartoma Tumor Syndrome 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 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 23470840 2013 Cognitive characteristics of PTEN hamartoma tumor syndromes.

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

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

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

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

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

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

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

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

PMID 27535533 2016 Analysis of protein-coding genetic variation in 60,706 humans.

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

rs121909224 in PTEN gene and Proteus-Like Syndrome (disorder) PMID 22266152 2012 Autoimmunity, intestinal lymphoid hyperplasia, and defects in mucosal B-cell homeostasis in patients with PTEN hamartoma tumor 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 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.

rs121909224 in PTEN gene and Pten Hamartoma Tumor Syndrome With Granular Cell Tumor 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.

rs121909224 in PTEN gene and Renal Cell Carcinoma PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs121909224 in PTEN gene and Small cell carcinoma of lung PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs121909224 in PTEN gene and Squamous cell carcinoma of lung PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs121909224 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.

rs121909224 in PTEN gene and Uterine Carcinosarcoma PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs121909224 in PTEN gene and Uterine Cervical Neoplasm PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs121909224 in PTEN gene and ovarian neoplasm PMID 18767981 2009 PTEN and the PI3-kinase pathway in cancer.

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

PMID 20085938 2010 The PI3K pathway as drug target in human cancer.