Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Squamous cell carcinoma of the head and neck
0.500 GeneticVariation disease BEFREE We have previously reported high incidence of PIK3CA somatic mutations in head and neck squamous cell carcinoma, particularly in pharyngeal cancers. 24511546 2014
Squamous cell carcinoma of the head and neck
0.500 GeneticVariation disease BEFREE Tissue biopsies of 25 consecutive cases of HNSCC were tested for activating PIK3CA mutations at three mutational hotspots by real-time polymerase chain reaction. 26271341 2016
Squamous cell carcinoma of the head and neck
0.500 GeneticVariation disease BEFREE We identified frequent PIK3CA mutations in patients with high-risk HNSCC confined predominantly to the oropharyngeal and sinonasal subsites; for the first time, mutation in AKT1 has been identified in HNSCC. 23852799 2014
Squamous cell carcinoma of the head and neck
0.500 GeneticVariation disease BEFREE A total of seven mutations were identified in exons 9 and 20 of the PIK3CA gene in 14 HNSCC tumor tissue specimens. 26889984 2016
Squamous cell carcinoma of the head and neck
0.500 GeneticVariation disease BEFREE Screening of PI3K pathway mutation and inflammatory cytokine expression may help identify which R/M-SCCHN patients are likely to gain benefit from dacomitinib. 25424851 2015
Squamous cell carcinoma of the head and neck
0.500 GeneticVariation disease BEFREE The poor prognostic value of GOF <i>TP53</i> variants and mTOR pathway upregulation was confirmed in the TCGA SCCHN cohort.<b>Conclusions:</b> Our study demonstrates a link of intratumoral heterogeneity and clonal evolution as important mechanisms of drug resistance in SCCHN and establishes mutant GOF <i>TP53</i> variants and the PI3K/mTOR pathway as molecular targets for treatment optimization.<i></i>. 29061642 2018
Squamous cell carcinoma of the head and neck
0.500 GeneticVariation disease BEFREE Blood samples from treatment naïve HNSCC patients (<i>n</i> = 29) were interrogated for a commonly mutated PIK3CA hotspot mutation using low cost allele-specific Plex-PCR<sup>TM</sup> technology. 30501041 2018
Squamous cell carcinoma of the head and neck
0.500 GeneticVariation disease BEFREE Deguelin Potentiates Apoptotic Activity of an EGFR Tyrosine Kinase Inhibitor (AG1478) in PIK3CA-Mutated Head and Neck Squamous Cell Carcinoma. 28134774 2017
Squamous cell carcinoma of the head and neck
0.500 GeneticVariation disease BEFREE In conclusion, this study demonstrates that P120CTN downregulation and PIK3CA mutations promote MMP1-driven invasion, providing a potential novel target for limiting metastasis in HNSCC.<b>Implications:</b> Because of its role in invasion, MMP1 represents a novel, potential target for limiting metastasis in a subset of HNSCCs with P120CTN downregulation and <i>PIK3CA</i> mutations.<i></i>. 28637905 2017
Squamous cell carcinoma of the head and neck
0.500 GeneticVariation disease BEFREE PIK3CA showed a uniquely high rate of mutations within the helicase domain, and FGFR3 contained a predominance of hotspot S249C alterations that were not found in HPV- HNSCC. 30933315 2019
Squamous cell carcinoma of the head and neck
0.500 GeneticVariation disease BEFREE We identified four missense mutations in the seven exons of PIK3CA from 38 HNSCC specimens (11%). 16533766 2006
Squamous cell carcinoma of the head and neck
0.500 GeneticVariation disease BEFREE Conditional activation of the PI3K/Akt pathway due to Pten deletion in the mouse head and neck epithelia gives rise to hyperproliferation, but only a few lesions progress to HNSCC. 22037217 2012
Squamous cell carcinoma of the head and neck
0.500 GeneticVariation disease BEFREE Overall, while somatic activating mutations within classical oncogenes including PIK3CA and RAS occur in HNSCC, they are relatively uncommon. 22833868 2012
Squamous cell carcinoma of the head and neck
0.500 GeneticVariation disease BEFREE Furthermore, although FGFR3-TACC3 fusion proteins promote resistance of additional EGFR-dependent HNSCC and lung cancer cell lines to EGFR blockade, they are unable to compensate for inhibition of PI3K signaling in PIK3CA-mutant HNSCC cell lines. 27345413 2017
Squamous cell carcinoma of the head and neck
0.500 GeneticVariation disease CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
Squamous cell carcinoma of the head and neck
0.500 Biomarker disease BEFREE Pharmacologic profiling of eight anticancer agents in six HNSCC cell lines suggested that PIK3CA mutation may serve as a predictive biomarker for the drugs targeting the EGFR/PI3K pathway. 24425785 2014
Squamous cell carcinoma of the head and neck
0.500 Biomarker disease BEFREE As such, current research aimed at elucidating the interactions between PI3K/Akt/mTOR and other important signaling pathways which may drive resistance in HNSCC, such as p53, NF-κB, and MAPK, has become a prominent focus toward better understanding how to most effectively treat HNSCC. 24219320 2015
Squamous cell carcinoma of the head and neck
0.500 Biomarker disease BEFREE The PI3K inhibitor PX-866 had anti-tumor efficacy in HNSCC models with PIK3CA alterations. 23607916 2013
Squamous cell carcinoma of the head and neck
0.500 Biomarker disease BEFREE Here, we examined the responses of a large panel of patient-derived HNSCC cell lines to various combinations of PI3K and EGFR inhibitors, including EGFR agents with varying specificity and mechanistic characteristics. 30858165 2019
Squamous cell carcinoma of the head and neck
0.500 Biomarker disease BEFREE Novel therapies under investigation in HNSCC include antibody and small molecule inhibitors of EGF receptor and its family members, PI3K inhibitors, antiangiogenic agents, immunotherapies and agents interacting with early developmental pathways such as Hedgehog. 24941990 2014
Squamous cell carcinoma of the head and neck
0.500 Biomarker disease BEFREE Tumour-specific PI3K inhibition via nanoparticle-targeted delivery in head and neck squamous cell carcinoma. 28194032 2017
Squamous cell carcinoma of the head and neck
0.500 Biomarker disease BEFREE Emphasis is placed on the therapeutic implications of genes frequently altered in HNSCCs (i.e., TP53, PIK3CA, and NOTCH1) and their corresponding pathways, with a particular focus on recent findings of Notch signaling pathway activation in HNSCC. 25440877 2014
Squamous cell carcinoma of the head and neck
0.500 Biomarker disease BEFREE Benign tonsils infected with high-risk HPV harbored mutations in EP300, NF1, PIK3CA, and RB1 which are considered relevant in the development of HPV-associated head and neck squamous cell carcinoma (SCC). 28939080 2017
Squamous cell carcinoma of the head and neck
0.500 Biomarker disease BEFREE This study assessed the maximum tolerated dose (MTD) of the PI3K inhibitor buparlisib given concurrently with cetuximab in recurrent and metastatic (R/M) head and neck squamous cell carcinoma (HNSCC). 31486207 2019
Squamous cell carcinoma of the head and neck
0.500 Biomarker disease BEFREE The importance of PIK3CA alterations in squamous cell carcinoma of the head and neck (HNSCC) has raised interest in exploring agents targeting PI3K, the product of PIK3CA. 23873848 2013