rs121913289, PTEN

N. diseases: 4
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Immune dysregulation in patients with PTEN hamartoma tumor syndrome: Analysis of FOXP3 regulatory T cells. 27477328 2017
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR TumorNext: A comprehensive tumor profiling assay that incorporates high resolution copy number analysis and germline status to improve testing accuracy. 27626691 2016
Colorectal Neoplasms
CUI: C0009404
Disease: Colorectal Neoplasms
0.700 CausalMutation CLINVAR Phosphatidylinositide-3-kinase inhibitors: addressing questions of isoform selectivity and pharmacodynamic/predictive biomarkers in early clinical trials. 22162582 2012
Colorectal Neoplasms
CUI: C0009404
Disease: Colorectal Neoplasms
0.700 CausalMutation CLINVAR Phase I, dose-escalation study of BKM120, an oral pan-Class I PI3K inhibitor, in patients with advanced solid tumors. 22162589 2012
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR 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. 21956414 2011
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR A clinical scoring system for selection of patients for PTEN mutation testing is proposed on the basis of a prospective study of 3042 probands. 21194675 2011
Colorectal Neoplasms
CUI: C0009404
Disease: Colorectal Neoplasms
0.700 CausalMutation CLINVAR Predictive biomarkers of sensitivity to the phosphatidylinositol 3' kinase inhibitor GDC-0941 in breast cancer preclinical models. 20453058 2010
Mammary Neoplasms
CUI: C1458155
Disease: Mammary Neoplasms
0.700 CausalMutation CLINVAR Predictive biomarkers of sensitivity to the phosphatidylinositol 3' kinase inhibitor GDC-0941 in breast cancer preclinical models. 20453058 2010
Colorectal Neoplasms
CUI: C0009404
Disease: Colorectal Neoplasms
0.700 CausalMutation CLINVAR 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. 20619739 2010
Mammary Neoplasms
CUI: C1458155
Disease: Mammary Neoplasms
0.700 CausalMutation CLINVAR The PI3K pathway as drug target in human cancer. 20085938 2010
Colorectal Neoplasms
CUI: C0009404
Disease: Colorectal Neoplasms
0.700 CausalMutation CLINVAR PIK3CA mutations are not a major determinant of resistance to the epidermal growth factor receptor inhibitor cetuximab in metastatic colorectal cancer. 19366826 2009
Colorectal Neoplasms
CUI: C0009404
Disease: Colorectal Neoplasms
0.700 CausalMutation CLINVAR PIK3CA mutations predict local recurrences in rectal cancer patients. 19903786 2009
Colorectal Neoplasms
CUI: C0009404
Disease: Colorectal Neoplasms
0.700 CausalMutation CLINVAR Breast tumor cells with PI3K mutation or HER2 amplification are selectively addicted to Akt signaling. 18725974 2008
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR 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. 17526800 2007
Colorectal Neoplasms
CUI: C0009404
Disease: Colorectal Neoplasms
0.700 CausalMutation CLINVAR Phosphatidylinositol 3-kinase mutations identified in human cancer are oncogenic. 15647370 2005
Colorectal Neoplasms
CUI: C0009404
Disease: Colorectal Neoplasms
0.700 CausalMutation CLINVAR The PIK3CA gene is mutated with high frequency in human breast cancers. 15254419 2004
Colorectal Neoplasms
CUI: C0009404
Disease: Colorectal Neoplasms
0.700 CausalMutation CLINVAR High frequency of mutations of the PIK3CA gene in human cancers. 15016963 2004
Mammary Neoplasms
CUI: C1458155
Disease: Mammary Neoplasms
0.700 CausalMutation CLINVAR Enhanced sensitivity of PTEN-deficient tumors to inhibition of FRAP/mTOR. 11504908 2001
Mammary Neoplasms
CUI: C1458155
Disease: Mammary Neoplasms
0.700 CausalMutation CLINVAR Crystal structure of the PTEN tumor suppressor: implications for its phosphoinositide phosphatase activity and membrane association. 10555148 1999
PTEN Hamartoma Tumor Syndrome
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
0.700 CausalMutation CLINVAR