PTEN, phosphatase and tensin homolog, 5728

N. diseases: 1349; N. variants: 384
Disease: HER2 gene amplification ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1512127
Disease: HER2 gene amplification
HER2 gene amplification 		0.100 AlteredExpression disease BEFREE Multivariate analyses confirmed two independent molecular predictors for trastuzumab resistance: loss of PTEN expression and low HER2 amplification index (<5). 29371924 2017
CUI: C1512127
Disease: HER2 gene amplification
HER2 gene amplification 		0.100 GeneticVariation disease BEFREE Genetically, a hemizygous deletion and a point mutation in PTEN were identified in case 1, whereas HER2 amplification was found in cases 2 and 3. 27808478 2017
CUI: C1512127
Disease: HER2 gene amplification
HER2 gene amplification 		0.100 GeneticVariation disease BEFREE Gene copy number alterations were identified in 75.8% of cases, including SOX2 amplification (31.2%), CDKN2A deletion (21.7%), PTEN deletion (16.6%), FGFR1 amplification (15.9%), EGFR amplification (14.0%), CCND1 amplification (14.0%), HER2 amplification (9.6%) and PDGFRA amplification (7.6%). 27145277 2016
CUI: C1512127
Disease: HER2 gene amplification
HER2 gene amplification 		0.100 GeneticVariation disease BEFREE Together, resistance to HER2 blockade should be indicated during treatment if any of the following situations applies: 1) recurrence or persistence of HER2 amplification in the blood; 2) emergence or ≥20% increase in the fraction of mutations in any of these resistance-related genes including TP53/PIK3CA/MTOR/PTEN. 27602761 2016
CUI: C1512127
Disease: HER2 gene amplification
HER2 gene amplification 		0.100 Biomarker disease BEFREE HER2 amplification and PTEN loss promote DNA replication stress and APOBEC3B activity in vitro and correlate with APOBEC3 mutagenesis in vivo. 27634334 2016
CUI: C1512127
Disease: HER2 gene amplification
HER2 gene amplification 		0.100 GeneticVariation disease BEFREE TP53 mutations (15/27, 56%), PTEN loss (11/29, 38%, including 2 cases with PTEN mutation), PIK3CA hotspot mutations (10/30, 33%), HRAS hotspot mutations (10/29; 34%), and ERBB2 amplification (9/29, 31%, including 1 case with mutation) represented the 5 most common abnormalities. 25723113 2015
CUI: C1512127
Disease: HER2 gene amplification
HER2 gene amplification 		0.100 Biomarker disease BEFREE In addition, the particularly poor prognosis of patients with HER2 amplification and PTEN deletions challenges the concept of PTEN deletions interfering with trastuzumab therapy. 26672755 2015
CUI: C1512127
Disease: HER2 gene amplification
HER2 gene amplification 		0.100 AlteredExpression disease BEFREE An increasing number of molecular alterations have been more recently hypothesized to be involved in resistance to anti-EGFR mAbs in CRC: mutations in BRAF, NRAS and PIK3CA, loss of expression of PTEN and, now, activation of HER2 signaling through HER2 gene amplification and/or increased heregulin stimulation. 23281932 2013
CUI: C1512127
Disease: HER2 gene amplification
HER2 gene amplification 		0.100 AlteredExpression disease BEFREE PTEN expression might not be strictly associated with erbB2 amplification in SACC-83 cells. 20878123 2010
CUI: C1512127
Disease: HER2 gene amplification
HER2 gene amplification 		0.100 Biomarker disease BEFREE Treatment success of breast cancer patients with trastuzumab alone or in combination depends not only on HER2/NEU amplification but also on PTEN and PI3K status and efficient cell death programs. 20589936 2010