present in Gene: PTEN
present in Chromosome: 10
Position on Chromosome: 87957915
Alleles of this Variant: C/A;T
rs121909219 in
PTEN gene and
Colorectal Neoplasms
PMID 22162582 2012 Phosphatidylinositide-3-kinase inhibitors: addressing questions of isoform selectivity and pharmacodynamic/predictive biomarkers in early clinical trials.
PMID 20453058 2010 Predictive biomarkers of sensitivity to the phosphatidylinositol 3' kinase inhibitor GDC-0941 in breast cancer preclinical models.
PMID 18725974 2008 Breast tumor cells with PI3K mutation or HER2 amplification are selectively addicted to Akt signaling.
PMID 20619739 2010 Effects of KRAS, BRAF, NRAS, and PIK3CA mutations on the efficacy of cetuximab plus chemotherapy in chemotherapy-refractory metastatic colorectal cancer: a retrospective consortium analysis.
PMID 15647370 2005 Phosphatidylinositol 3-kinase mutations identified in human cancer are oncogenic.
PMID 19903786 2009 PIK3CA mutations predict local recurrences in rectal cancer patients.
PMID 22162589 2012 Phase I, dose-escalation study of BKM120, an oral pan-Class I PI3K inhibitor, in patients with advanced solid tumors.
PMID 19366826 2009 PIK3CA mutations are not a major determinant of resistance to the epidermal growth factor receptor inhibitor cetuximab in metastatic colorectal cancer.
PMID 15016963 2004 High frequency of mutations of the PIK3CA gene in human cancers.
PMID 9259288 1997 Germline mutations in the PTEN/MMAC1 gene in patients with Cowden disease.
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.
rs121909219 in
PTEN gene and
Mammary Neoplasms
PMID 10555148 1999 Crystal structure of the PTEN tumor suppressor: implications for its phosphoinositide phosphatase activity and membrane association.
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.
PMID 20453058 2010 Predictive biomarkers of sensitivity to the phosphatidylinositol 3' kinase inhibitor GDC-0941 in breast cancer preclinical models.
rs121909219 in
PTEN gene and
Neoplastic Syndromes, Hereditary
PMID 15211648 2004 Two novel mutations of PTEN gene in Japanese patients with Cowden syndrome.
PMID 16952599 2006 Cutaneous lipoma in children: 5 cases with Bannayan-Riley-Ruvalcaba syndrome.
PMID 10400993 1999 PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome.
PMID 9140396 1997 Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrome.
PMID 10920277 2000 Mutation analysis of the PTEN / MMAC1 gene in Japanese patients with Cowden disease.
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 25288137 2015 Molecular and phenotypic abnormalities in individuals with germline heterozygous PTEN mutations and autism.
PMID 28286253 2017 Chiari I malformation in a child with PTEN hamartoma tumor syndrome: Association or coincidence?
rs121909219 in
PTEN gene and
Non-Small Cell Lung Carcinoma
PMID 20881644 2010 Somatic mutations in epidermal growth factor receptor signaling pathway genes in non-small cell lung cancers.
PMID 20085938 2010 The PI3K pathway as drug target in human cancer.
PMID 10555148 1999 Crystal structure of the PTEN tumor suppressor: implications for its phosphoinositide phosphatase activity and membrane association.
PMID 20018398 2010 PTEN mutations and relationship to EGFR, ERBB2, KRAS, and TP53 mutations in non-small cell lung cancers.
PMID 19351834 2009 PTEN loss contributes to erlotinib resistance in EGFR-mutant lung cancer by activation of Akt and EGFR.
PMID 11504908 2001 Enhanced sensitivity of PTEN-deficient tumors to inhibition of FRAP/mTOR.
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 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 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.