Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.800 GeneticVariation disease CLINVAR
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.800 CausalMutation disease CGI
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.800 GeneticVariation disease UNIPROT
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.800 GenomicAlterations disease CGI
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.800 AlteredExpression disease BEFREE PTEN coordinates G(1) arrest by down-regulating cyclin D1 via its protein phosphatase activity and up-regulating p27 via its lipid phosphatase activity in a breast cancer model. 11230179 2001
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.800 GeneticVariation disease BEFREE PTEN, a tyrosine phosphatase, is frequently mutated in brain and breast cancers but not in gastric cancers. 11953696 2002
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.800 GeneticVariation disease BEFREE PTEN mutation positive BRRS are at increased risk of at least breast cancer, possibly that of the thyroid as well. 14518069 2003
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.800 GeneticVariation disease BEFREE PTEN frequently shows loss of heterozygosity in breast and prostate cancers, and mutations in this gene are responsible for Cowden disease, a rare Mendelian syndrome that includes breast cancer as part of its phenotype. 16702386 2006
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.800 Biomarker disease BEFREE PTEN is an ubiquitously expressed tumor suppressor which plays a prominent role in the pathogenesis of many types of sporadic solid tumors, including breast cancer, as well as hematologic malignancies. 17405772 2007
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.800 AlteredExpression disease BEFREE PTEN expression has been shown to be correlated with NDRG1 in both prostate and breast cancer. 18653908 2008
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.800 Biomarker disease BEFREE Phosphatase and tensin homolog (PTEN) is a key modulator of trastuzumab sensitivity in HER2-overexpressing breast cancer. 20813970 2010
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.800 Biomarker disease BEFREE PTEN activation sensitizes breast cancer to PI3-kinase inhibitor through the β-catenin signaling pathway. 22710837 2012
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.800 Biomarker disease BEFREE PTEN loss associated with increased AKT phosphorylation, which was highest in ILC among all breast cancer subtypes. 26451490 2015
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.800 GeneticVariation disease BEFREE PTEN deletions were inversely associated with features of luminal type breast cancers (ER/PR positivity; p<0.0001 each, and CCND1 amplification; p=0.0020). 26672755 2015
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.800 Biomarker disease BEFREE PTEN, a tumor suppressor gene, was confirmed as a target of miR-221/222 in breast cancer cell line MCF-7. 27044817 2016
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.800 Biomarker disease BEFREE Phosphatase and tensin homolog deleted on chromosome 10 (PTEN) insufficiency is commonly found in breast cancer patients with metastasis. 27466505 2016
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.800 AlteredExpression disease BEFREE PTEN deletion increased PI(3,4)P<sub>2</sub> levels in a mouse model of prostate cancer, and it inversely correlated with PI(3,4)P<sub>2</sub> levels across several EGF-stimulated prostate and breast cancer lines. 29056325 2017
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.800 AlteredExpression disease BEFREE PTEN and MFN2 protein expressions were negative correlated with Vmax and positively correlated with RI in breast cancer patients. 31535669 2019
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.800 Biomarker disease BEFREE PTEN loss mediates clinical cross-resistance to CDK4/6 and PI3Kα inhibitors in breast cancer. 31594766 2020
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.800 Biomarker disease BEFREE A large-scale RNA interference screen to discover genes involved in trastuzumab resistance in breast cancer identified only PTEN as a modulator of drug sensitivity. 17936563 2007
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.800 GeneticVariation disease BEFREE A new tumor suppressor gene PTEN/MMAC1 was recently isolated at chromosome 10q23 and found to be inactivated by point mutation or homozygous deletion in glioma, prostate and breast cancer. 9671402 1998
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.800 GeneticVariation disease BEFREE A novel tumor suppressor gene, PTEN, has recently been identified at chromosome 10q23, which is inactivated in a number of different tumor types including breast cancer. 10415336 1999
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.800 GeneticVariation disease BEFREE A small group of cases are secondary to mutations in other breast cancer susceptibility genes, such as p53, PTEN or CDH1. 18544963 2008
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.800 Biomarker disease BEFREE Activation of the PTEN/mTOR/STAT3 pathway in breast cancer stem-like cells is required for viability and maintenance. 17911267 2007
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.800 Biomarker disease BEFREE Additionally, release of significant aberrant methylated PTEN in matched serum samples might represent a promising biomarker for breast cancer. 20466735 2010