PTEN, phosphatase and tensin homolog, 5728

N. diseases: 1349; N. variants: 384
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0278488
Disease: Carcinoma breast stage IV
Carcinoma breast stage IV
0.090 GeneticVariation disease BEFREE We sequenced cfDNA of a hormone receptor-positive, HER2-negative metastatic breast cancer (MBC) cohort with a high coverage to examine the prevalence and relevance of any detected variant. cfDNA of 44 MBC patients was isolated, followed by library construction using a customized targeted DNA panel with integrated unique molecular indices analyzing AKT1, AR, BRCA1, BRCA2, EGFR, ERCC4, ERBB2, ERBB3, ESR1, FGFR1, KRAS, MUC16, PIK3CA, PIK3R1, PTEN, PTGFR, and TGFB1. 31254045 2020
CUI: C0278488
Disease: Carcinoma breast stage IV
Carcinoma breast stage IV
0.090 AlteredExpression disease BEFREE MAGI2-AS3 upregulation inhibited breast cancer metastatic progression by decreasing miR-374a and enhancing PTEN expression. 30883342 2019
CUI: C0278488
Disease: Carcinoma breast stage IV
Carcinoma breast stage IV
0.090 GeneticVariation disease BEFREE One patient achieved a complete response (CR; endometrial carcinoma exhibiting both PIK3CA and PTEN mutations and complete PTEN loss) and two had a partial response (PR; both metastatic breast cancer). 27672108 2016
CUI: C0278488
Disease: Carcinoma breast stage IV
Carcinoma breast stage IV
0.090 GeneticVariation disease BEFREE Association of phosphatase and tensin homolog low and phosphatidylinositol 3-kinase catalytic subunit alpha gene mutations on outcome in human epidermal growth factor receptor 2-positive metastatic breast cancer patients treated with first-line lapatinib plus paclitaxel or paclitaxel alone. 25056500 2014
CUI: C0278488
Disease: Carcinoma breast stage IV
Carcinoma breast stage IV
0.090 Biomarker disease BEFREE HER3 and PTEN expressions may be predictive markers, and PTEN expression may be a predictive and prognostic biomarker for trastuzumab treatment in HER2-positive MBCs. 24346286 2014
CUI: C0278488
Disease: Carcinoma breast stage IV
Carcinoma breast stage IV
0.090 AlteredExpression disease BEFREE PI3K pathway mutations and PTEN levels in primary and metastatic breast cancer. 21490305 2011
CUI: C0278488
Disease: Carcinoma breast stage IV
Carcinoma breast stage IV
0.090 GeneticVariation disease BEFREE Evaluation of the association of PIK3CA mutations and PTEN loss with efficacy of trastuzumab therapy in metastatic breast cancer. 21594665 2011
CUI: C0278488
Disease: Carcinoma breast stage IV
Carcinoma breast stage IV
0.090 GeneticVariation disease BEFREE This article will characterize the biochemical and biological properties of a mutant PTEN protein found in a commonly used metastatic breast cancer cell line. 22103913 2011
CUI: C0278488
Disease: Carcinoma breast stage IV
Carcinoma breast stage IV
0.090 Biomarker disease BEFREE New tyrosine kinase inhibitors, monoclonal antibodies, PTEN (phosphatase and tensin homolog) pathway regulators, HER2 antibody-drug conjugates, and inhibitors of heat shock protein-90 are being evaluated to determine whether they may have a role to play in treating trastuzumab-resistant metastatic breast cancer. 19664181 2009