Variant: rs121909231 

    present in Gene: PTEN
    present in Chromosome: 10
    Position on Chromosome: 87961095
    Alleles of this Variant: C/A;T

rs121909231 in PTEN gene and Brain Neoplasms PMID 25157968 2014 Prospective enterprise-level molecular genotyping of a cohort of cancer patients.

rs121909231 in PTEN gene and CEREBELLOPARENCHYMAL DISORDER VI PMID 25756585 2015 Malignant peripheral nerve sheath tumor in cowden syndrome: a first report.

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

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

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

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

rs121909231 in PTEN gene and Cerebellar Granule Cell Hypertrophy and Megalencephaly PMID 23475934 2013 Cowden syndrome-related mutations in PTEN associate with enhanced proteasome activity.

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

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

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

rs121909231 in PTEN gene and Hamartoma Syndrome, Multiple PMID 9399897 1997 Inherited mutations in PTEN that are associated with breast cancer, cowden disease, and juvenile polyposis.

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

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 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.

rs121909231 in PTEN gene and Lhermitte-Duclos disease PMID 10468583 1999 The tumor-suppressor activity of PTEN is regulated by its carboxyl-terminal region.

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

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

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

rs121909231 in PTEN gene and MACROCEPHALY/AUTISM SYNDROME PMID 23470840 2013 Cognitive characteristics of PTEN hamartoma tumor syndromes.

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

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

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 23695273 2014 Biochemical screening and PTEN mutation analysis in individuals with autism spectrum disorders and macrocephaly.

rs121909231 in PTEN gene and Muscle hypotonia PMID 15805158 2005 Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations.

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

PMID 17427195 2007 Mutation screening of the PTEN gene in patients with autism spectrum disorders and macrocephaly.

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

PMID 12844284 2003 Germline PTEN promoter mutations and deletions in Cowden/Bannayan-Riley-Ruvalcaba syndrome result in aberrant PTEN protein and dysregulation of the phosphoinositol-3-kinase/Akt pathway.

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

PMID 25022750 2014 Hamartomatous polyposis syndromes: a review.

PMID 23695273 2014 Biochemical screening and PTEN mutation analysis in individuals with autism spectrum disorders and macrocephaly.

PMID 24136893 2013 Cowden syndrome and the PTEN hamartoma tumor syndrome: systematic review and revised diagnostic criteria.

PMID 19668082 2009 PTEN hamartoma tumor syndrome: an overview.

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

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 25132236 2015 Cowden syndrome: recognizing and managing a not-so-rare hereditary cancer syndrome.

PMID 22252256 2012 Lifetime cancer risks in individuals with germline PTEN mutations.

rs121909231 in PTEN gene and Overgrowth PMID 22252256 2012 Lifetime cancer risks in individuals with germline PTEN mutations.

PMID 25022750 2014 Hamartomatous polyposis syndromes: a review.

PMID 23695273 2014 Biochemical screening and PTEN mutation analysis in individuals with autism spectrum disorders and macrocephaly.

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 25132236 2015 Cowden syndrome: recognizing and managing a not-so-rare hereditary cancer syndrome.

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

PMID 17427195 2007 Mutation screening of the PTEN gene in patients with autism spectrum disorders and macrocephaly.

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

PMID 19668082 2009 PTEN hamartoma tumor syndrome: an overview.

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

PMID 12844284 2003 Germline PTEN promoter mutations and deletions in Cowden/Bannayan-Riley-Ruvalcaba syndrome result in aberrant PTEN protein and dysregulation of the phosphoinositol-3-kinase/Akt pathway.

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

PMID 24136893 2013 Cowden syndrome and the PTEN hamartoma tumor syndrome: systematic review and revised diagnostic criteria.

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

rs121909231 in PTEN gene and PTEN Hamartoma Tumor Syndrome 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 23475934 2013 Cowden syndrome-related mutations in PTEN associate with enhanced proteasome activity.

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

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

rs121909231 in PTEN gene and Proteus-Like Syndrome (disorder) PMID 10468583 1999 The tumor-suppressor activity of PTEN is regulated by its carboxyl-terminal region.

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

rs121909231 in PTEN gene and Pten Hamartoma Tumor Syndrome With Granular Cell Tumor 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 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 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.