^
Contact us  to learn more about
our Premium Content:  News alerts, weekly reports and conference planners
BIOMARKER:

PIK3R1 mutation

i
Other names: PIK3R1, Phosphoinositide-3-Kinase Regulatory Subunit 1, Phosphatidylinositol 3-Kinase 85 KDa Regulatory Subunit Alpha, Phosphoinositide-3-Kinase, Regulatory Subunit 1 (Alpha), Phosphatidylinositol 3-Kinase Regulatory Subunit Alpha, Phosphoinositide-3-Kinase Regulatory Subunit Alpha, PtdIns-3-Kinase Regulatory Subunit Alpha, PI3K Regulatory Subunit Alpha, PI3-Kinase Subunit P85-Alpha, GRB1, Phosphatidylinositol 3-Kinase, Regulatory Subunit, Polypeptide 1 (P85 Alpha), Phosphatidylinositol 3-Kinase
Entrez ID:
Related biomarkers:
5d
Enrollment open • Combination therapy
|
ER (Estrogen receptor) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • PGR (Progesterone receptor) • PTEN (Phosphatase and tensin homolog) • PIK3R1 (Phosphoinositide-3-Kinase Regulatory Subunit 1) • PI3K (Phosphoinositide 3-kinases)
|
ER positive • PIK3CA mutation • PTEN deletion • PIK3R1 mutation
|
fulvestrant • Aliqopa (copanlisib)
24d
A comprehensive genomic study of 390 H3F3A-mutant pediatric-type diffuse high-grade gliomas WHO CNS grade 4 (EANO 2022)
These data expand our understanding of the tumor-specific molecular features of pediatric-type high-grade gliomas, identifying cohort sub-structure by recurrent co-mutations, which can inform diagnosis and clinical trial design.
Clinical
|
PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • FGFR1 (Fibroblast growth factor receptor 1) • CDKN2A (Cyclin-dependent kinase inhibitor 2A) • NF1 (Neurofibromin 1) • CDK4 (Cyclin-dependent kinase 4) • PIK3R1 (Phosphoinositide-3-Kinase Regulatory Subunit 1) • H3F3A (H3 Histone Family Member 3A)
|
PIK3CA mutation • CDKN2A deletion • FGFR1 mutation • CDK4 amplification • PIK3R1 mutation
25d
Adenomyoepithelioma of the Breast: Molecular Profile of 6 Cases (CAP 2022)
Breast adenomyoepitheliomas are rare tumors. They represent a heterogeneous group morphologically, clinically, and genetically. Identification of recurrent genetic alterations may have diagnostic and therapeutic applications.
Clinical
|
ER (Estrogen receptor) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • FGFR2 (Fibroblast growth factor receptor 2) • FGFR1 (Fibroblast growth factor receptor 1) • HRAS (Harvey rat sarcoma viral oncogene homolog) • NRG1 (Neuregulin 1) • PIK3R1 (Phosphoinositide-3-Kinase Regulatory Subunit 1)
|
PIK3CA mutation • FGFR1 amplification • FGFR2 mutation • ER negative • FGFR1 mutation • HRAS mutation • AKT1 mutation • PIK3R1 mutation • NRG1 amplification
25d
Adenomyoepithelioma of the Breast: Molecular Profile of 6 Cases (CAP 2022)
Breast adenomyoepitheliomas are rare tumors. They represent a heterogeneous group morphologically, clinically, and genetically. Identification of recurrent genetic alterations may have diagnostic and therapeutic applications.
Clinical
|
ER (Estrogen receptor) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • FGFR2 (Fibroblast growth factor receptor 2) • FGFR1 (Fibroblast growth factor receptor 1) • HRAS (Harvey rat sarcoma viral oncogene homolog) • NRG1 (Neuregulin 1) • PIK3R1 (Phosphoinositide-3-Kinase Regulatory Subunit 1)
|
PIK3CA mutation • FGFR1 amplification • FGFR2 mutation • ER negative • FGFR1 mutation • HRAS mutation • AKT1 mutation • PIK3R1 mutation • NRG1 amplification
25d
Melanotic Medullary Thyroid Carcinoma: Case Report and Literature Review (CAP 2022)
Molecular analysis with the SEMA4 Solid Tumor Panel revealed mutations in the HRAS, PIK3CA, PIK3R1, MYC, and CCND3 genes. The diagnosis was reported as melanocytic medullary thyroid carcinoma with high-grade transformation and loss of epithelial and neuroendocrine expression.
Clinical • Review
|
PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • HRAS (Harvey rat sarcoma viral oncogene homolog) • PIK3R1 (Phosphoinositide-3-Kinase Regulatory Subunit 1) • CEACAM5 (CEA Cell Adhesion Molecule 5) • NKX2-1 (NK2 Homeobox 1) • SOX10 (SRY-Box 10) • CCND3 (Cyclin D3) • MLANA (Melan-A) • PAX8 (Paired box 8) • SYP (Synaptophysin)
|
PIK3CA mutation • HRAS mutation • PIK3R1 mutation
25d
Melanotic Medullary Thyroid Carcinoma: Case Report and Literature Review (CAP 2022)
Molecular analysis with the SEMA4 Solid Tumor Panel revealed mutations in the HRAS, PIK3CA, PIK3R1, MYC, and CCND3 genes. The diagnosis was reported as melanocytic medullary thyroid carcinoma with high-grade transformation and loss of epithelial and neuroendocrine expression.
Clinical • Review
|
PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • HRAS (Harvey rat sarcoma viral oncogene homolog) • PIK3R1 (Phosphoinositide-3-Kinase Regulatory Subunit 1) • CEACAM5 (CEA Cell Adhesion Molecule 5) • NKX2-1 (NK2 Homeobox 1) • SOX10 (SRY-Box 10) • CCND3 (Cyclin D3) • MLANA (Melan-A) • PAX8 (Paired box 8) • SYP (Synaptophysin)
|
PIK3CA mutation • HRAS mutation • PIK3R1 mutation
27d
LUDOC II: Lavage of the Uterine Cavity for the Diagnosis of Ovarian and Tubal Carcinoma - Study of Sensitivity and Specificity (clinicaltrials.gov)
P=N/A, N=270, Completed, Medical University of Vienna | Unknown status --> Completed | N=540 --> 270 | Trial completion date: Sep 2020 --> Dec 2021 | Trial primary completion date: Sep 2020 --> Dec 2021
Trial completion • Enrollment change • Trial completion date • Trial primary completion date
|
EGFR (Epidermal growth factor receptor) • BRAF (B-raf proto-oncogene) • KRAS (KRAS proto-oncogene GTPase) • TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • NRAS (Neuroblastoma RAS viral oncogene homolog) • PTEN (Phosphatase and tensin homolog) • FGFR2 (Fibroblast growth factor receptor 2) • CDKN2A (Cyclin-dependent kinase inhibitor 2A) • ARID1A (AT-rich interaction domain 1A) • AKT1 (V-akt murine thymoma viral oncogene homolog 1) • KMT2D (Lysine Methyltransferase 2D) • FBXW7 (F-Box And WD Repeat Domain Containing 7) • RNF43 (Ring Finger Protein 43) • CTNNB1 (Catenin (cadherin-associated protein), beta 1) • PIK3R1 (Phosphoinositide-3-Kinase Regulatory Subunit 1) • MLL2 (Myeloid/lymphoid or mixed-lineage leukemia 2) • FAT3 (FAT Atypical Cadherin 3) • CSMD3 (CUB And Sushi Multiple Domains 3)
|
PTEN mutation • ARID1A mutation • FGFR2 mutation • KMT2D mutation • CTNNB1 mutation • RNF43 mutation • AKT1 mutation • PIK3R1 mutation
30d
Melanotic medullary thyroid carcinoma: A case report with review of the literature. (PubMed, Diagn Cytopathol)
Molecular analysis with the SEMA4 Solid Tumor Panel revealed mutations in the HRAS, PIK3CA, PIK3R1, MYC, and CCND3 genes. The final diagnosis was reported as melanocytic medullary thyroid carcinoma with high grade transformation and loss of epithelial and neuroendocrine expression.
Review • Journal
|
PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • HRAS (Harvey rat sarcoma viral oncogene homolog) • PIK3R1 (Phosphoinositide-3-Kinase Regulatory Subunit 1) • CEACAM5 (CEA Cell Adhesion Molecule 5) • NKX2-1 (NK2 Homeobox 1) • SOX10 (SRY-Box 10) • CCND3 (Cyclin D3) • MLANA (Melan-A) • PAX8 (Paired box 8) • SYP (Synaptophysin)
|
PIK3CA mutation • HRAS mutation • PIK3R1 mutation
1m
Towards less invasive molecular diagnostics for endometrial cancer: massively parallel sequencing of endometrial lavage specimens in women attending for an office hysteroscopy. (PubMed, J Mol Med (Berl))
• Sequencing of uterine lavage samples may help inform diagnostic protocols for EC. • This approach can be used for recurrence surveillance in patients with EC.
Journal
|
KRAS (KRAS proto-oncogene GTPase) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • PTEN (Phosphatase and tensin homolog) • ARID1A (AT-rich interaction domain 1A) • CTNNB1 (Catenin (cadherin-associated protein), beta 1) • PIK3R1 (Phosphoinositide-3-Kinase Regulatory Subunit 1)
|
KRAS mutation • PIK3CA mutation • PTEN mutation • ARID1A mutation • PIK3R1 mutation
2ms
The impact of PIK3R1 mutations and insulin-PI3K-glycolytic pathway regulation in prostate cancer. (PubMed, Clin Cancer Res)
Our findings describe a novel genomic feature in metastatic prostate cancer and suggest that PIK3R1 alteration may be a key event for insulin-PI3K-glycolytic pathway regulation in prostate cancer.
Journal
|
PTEN (Phosphatase and tensin homolog) • PIK3R1 (Phosphoinositide-3-Kinase Regulatory Subunit 1)
|
PIK3R1 mutation
|
MSK-IMPACT
2ms
PIKNIC: Phosphatidylinositol 3-kinase (PI3K) Alpha iNhibition In Advanced Breast Cancer (clinicaltrials.gov)
P2, N=38, Completed, Peter MacCallum Cancer Centre, Australia | Unknown status --> Completed | Trial completion date: Dec 2018 --> Oct 2021 | Trial primary completion date: Dec 2017 --> Oct 2021
Trial completion • Trial completion date • Trial primary completion date
|
EGFR (Epidermal growth factor receptor) • HER-2 (Human epidermal growth factor receptor 2) • KRAS (KRAS proto-oncogene GTPase) • ALK (Anaplastic lymphoma kinase) • ER (Estrogen receptor) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • NRAS (Neuroblastoma RAS viral oncogene homolog) • PGR (Progesterone receptor) • PTEN (Phosphatase and tensin homolog) • HRAS (Harvey rat sarcoma viral oncogene homolog) • AKT1 (V-akt murine thymoma viral oncogene homolog 1) • PIK3R1 (Phosphoinositide-3-Kinase Regulatory Subunit 1) • INPP4B (Inositol polyphosphate-4-phosphatase type II B) • PI3K (Phosphoinositide 3-kinases) • PIK3R3 (Phosphoinositide-3-Kinase Regulatory Subunit 3)
|
KRAS mutation • ER positive • EGFR mutation • PIK3CA mutation • HER-2 negative • EGFR amplification • ALK mutation • AKT1 mutation • PIK3R1 mutation
|
Piqray (alpelisib)
2ms
Conjunctival Melanoma in Ireland – a sixty year review (ECP 2022)
Conjunctival melanoma is a rare neoplasm with only 72 cases diagnosed in Ireland in the last 60 years. Recurrence and metastases are common. Options for treatment of conjunctival melanoma include excision, cryotherapy, corneal epitheliectomy, radiotherapy and topical mito-mycin C. Adjuvant therapy is limited, with conjunctival melanomas showing intermediate sensitivity to immunotherapy.
Review • IO biomarker
|
BRAF (B-raf proto-oncogene) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • NRAS (Neuroblastoma RAS viral oncogene homolog) • PIK3R1 (Phosphoinositide-3-Kinase Regulatory Subunit 1)
|
PIK3CA mutation • PIK3R1 mutation • PIK3R1 M326I
3ms
Trial initiation date • Combination therapy
|
ER (Estrogen receptor) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • PGR (Progesterone receptor) • PTEN (Phosphatase and tensin homolog) • PIK3R1 (Phosphoinositide-3-Kinase Regulatory Subunit 1) • PI3K (Phosphoinositide 3-kinases)
|
ER positive • PIK3CA mutation • PTEN deletion • PIK3R1 mutation
|
fulvestrant • Aliqopa (copanlisib)
4ms
High incidence of PI3K pathway gene mutations in South Indian cervical cancers. (PubMed, Cancer Genet)
The high incidence of the PI3K pathway gene mutations observed in this study could be exploited for the therapeutic management of cervical cancers.
Journal
|
PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • PTEN (Phosphatase and tensin homolog) • mTOR (Mechanistic target of rapamycin kinase) • AKT1 (V-akt murine thymoma viral oncogene homolog 1) • TSC2 (TSC complex subunit 2) • PIK3R1 (Phosphoinositide-3-Kinase Regulatory Subunit 1)
|
PIK3CA mutation • PTEN mutation • PIK3CA E545K • PIK3CA E542K • TSC2 mutation • AKT1 mutation • MTOR mutation • PIK3CA E545 • PIK3CA E542 • PIK3R1 mutation
5ms
HER2 in uterine carcinosarcoma: Testing platforms and implications for targeted therapy. (ASCO 2022)
Increased HER2 positivity was detected via CISH testing compared to IHC and NGS, which may reflect the heterogeneity of HER2 amplification due to mixed histology between the sarcoma and carcinoma portion of the tumor. High concordance rates were observed between CISH and IHC. These testing platforms need to be validated by response to HER2 targeted therapies in order to develop UCS specific testing guidelines.
Tumor Mutational Burden • PD(L)-1 Biomarker • MSi-H Biomarker • IO biomarker
|
HER-2 (Human epidermal growth factor receptor 2) • PD-L1 (Programmed death ligand 1) • KRAS (KRAS proto-oncogene GTPase) • TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • TMB (Tumor Mutational Burden) • MSI (Microsatellite instability) • PTEN (Phosphatase and tensin homolog) • FBXW7 (F-Box And WD Repeat Domain Containing 7) • PIK3R1 (Phosphoinositide-3-Kinase Regulatory Subunit 1)
|
PD-L1 expression • TP53 mutation • HER-2 positive • KRAS mutation • MSI-H/dMMR • HER-2 amplification • PIK3CA mutation • PTEN mutation • KRAS amplification • HER-2 amplification + PD-L1 expression • PIK3R1 mutation
|
VENTANA PD-L1 (SP142) Assay • INFORM HER2 Dual ISH DNA Probe Cocktail • PATHWAY antiHer2/neu (4B5) Rabbit Monoclonal Primary Antibody
6ms
Pan-cancer analysis on the role of PIK3R1 and PIK3R2 in human tumors. (PubMed, Sci Rep)
Our study conducted a comparatively comprehensive analysis of the role of PIK3R1 and PIK3R2 in a variety of cancers, contributing to further study of their potential mechanisms in cancer occurrence and progression. Our findings suggested that PIK3R1 and PIK3R2 could serve as prognostic markers for several cancers.
Journal • Pan tumor
|
PIK3R1 (Phosphoinositide-3-Kinase Regulatory Subunit 1) • PIK3R2 (Phosphoinositide-3-Kinase Regulatory Subunit 2 )
|
PIK3R1 mutation
6ms
Diffuse midline gliomas with H3K27 alteration in children: a clinicopathological analysis of forty-one cases (PubMed, Zhonghua Bing Li Xue Za Zhi)
The tumor location and histopathologic grading are not related to prognosis. New specific drugs and comprehensive treatment are needed to improve the prognosis.
Journal
|
TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • PIK3R1 (Phosphoinositide-3-Kinase Regulatory Subunit 1) • ACVR1 (Activin A Receptor Type 1) • H3F3A (H3 Histone Family Member 3A) • GFAP (Glial Fibrillary Acidic Protein)
|
TP53 mutation • PIK3CA mutation • PIK3R1 mutation • ACVR1 mutation
6ms
A novel mutant PIK3R1 breast cancer patient resistant to HER2-targeted therapy treated with everolimus: a case report. (PubMed, Mol Biol Rep)
To the best of our knowledge, this is the first study to show that the PIK3R1 mutation confers resistance to anti-HER2 therapy in breast cancer and that combining with everolimus treatment may overcome this resistance mechanism. We hypothesize that the PIK3R1 mutation is associated with the resistance to anti-HER2 therapy, and that this mutation merits further investigation as a clinical biomarker and therapeutic target.
Journal
|
PIK3R1 (Phosphoinositide-3-Kinase Regulatory Subunit 1)
|
HER-2 positive • HER-2 mutation • PIK3R1 mutation
|
Herceptin (trastuzumab) • carboplatin • everolimus
6ms
Distinct Genomic Landscapes in Early-Onset and Late-Onset Endometrial Cancer. (PubMed, JCO Precis Oncol)
Early-onset EC harbors a unique genomic landscape compared with late-onset disease. A distinct molecular phenotype of early-onset EC provides novel insights into a unique etiology and may yield clinical implications for developing targeted treatment modalities for younger patients.
Journal • Tumor Mutational Burden • BRCA Biomarker
|
KRAS (KRAS proto-oncogene GTPase) • TMB (Tumor Mutational Burden) • BRCA2 (Breast cancer 2, early onset) • PTEN (Phosphatase and tensin homolog) • FGFR2 (Fibroblast growth factor receptor 2) • KMT2D (Lysine Methyltransferase 2D) • KMT2C (Lysine Methyltransferase 2C) • CTNNB1 (Catenin (cadherin-associated protein), beta 1) • PIK3R1 (Phosphoinositide-3-Kinase Regulatory Subunit 1)
|
BRCA2 mutation • FGFR2 mutation • PIK3R1 mutation
6ms
Genomic landscape of endometrial carcinomas of no specific molecular profile. (PubMed, Mod Pathol)
In multivariate analysis, molecular clusters were associated with worse overall survival outcomes with C3 tumors having the worst (hazard ratio: 4) and C1 tumors having the best outcome. In conclusion, NSMP-ECs are a heterogenous group of tumors and comprise both aggressive and clinically low-risk ECs that can be identified based on mutation and copy number data.
Journal
|
ER (Estrogen receptor) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • PTEN (Phosphatase and tensin homolog) • POLE (DNA Polymerase Epsilon) • PIK3R1 (Phosphoinositide-3-Kinase Regulatory Subunit 1)
|
PIK3CA mutation • PTEN mutation • POLE mutation • ER negative • PIK3R1 mutation
7ms
Rosette-forming glioneuronal tumours are midline, FGFR1-mutated tumours. (PubMed, Neuropathol Appl Neurobiol)
We suggest adding FGFR1 mutation and intracranial midline location as essential diagnostic criteria. When DNA methylation profiling is not available, a RGNT diagnosis remains certain in cases demonstrating characteristic pathological features and FGFR1 mutation associated with either PIK3CA or PIK3R1 mutation.
Journal
|
PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • FGFR1 (Fibroblast growth factor receptor 1) • NF1 (Neurofibromin 1) • PIK3R1 (Phosphoinositide-3-Kinase Regulatory Subunit 1) • SYP (Synaptophysin)
|
PIK3CA mutation • NF1 mutation • FGFR1 mutation • FGFR1 expression • PIK3R1 mutation
7ms
A Phase 0 /II Study of Ribociclib (LEE011) in Combination With Everolimus in Preoperative Recurrent High-Grade Glioma Patients Scheduled for Resection (clinicaltrials.gov)
P1, N=27, Active, not recruiting, St. Joseph's Hospital and Medical Center, Phoenix | Recruiting --> Active, not recruiting | Trial primary completion date: Jun 2021 --> Jun 2022
Enrollment closed • Trial primary completion date • Combination therapy
|
PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • PTEN (Phosphatase and tensin homolog) • CDKN2A (Cyclin-dependent kinase inhibitor 2A) • mTOR (Mechanistic target of rapamycin kinase) • CCND1 (Cyclin D1) • CDK4 (Cyclin-dependent kinase 4) • CDKN2B (Cyclin Dependent Kinase Inhibitor 2B) • PIK3R1 (Phosphoinositide-3-Kinase Regulatory Subunit 1) • PIK3C2B (Phosphatidylinositol-4-Phosphate 3-Kinase Catalytic Subunit Type 2 Beta)
|
PIK3CA mutation • CCND1 amplification • CDK4 amplification • MTOR mutation • PIK3CA mutation + PTEN mutation • PIK3R1 mutation
|
everolimus • Kisqali (ribociclib)
7ms
Trial initiation date • Combination therapy
|
ER (Estrogen receptor) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • PGR (Progesterone receptor) • PTEN (Phosphatase and tensin homolog) • PIK3R1 (Phosphoinositide-3-Kinase Regulatory Subunit 1) • PI3K (Phosphoinositide 3-kinases)
|
ER positive • PIK3CA mutation • PTEN deletion • PIK3R1 mutation
|
fulvestrant • Aliqopa (copanlisib)
8ms
Mutational landscape of primary and recurrent Ewing sarcoma. (PubMed, Contemp Oncol (Pozn))
Besides EWSR1 fusion, ES is characterized by numerous point mutations that are potential targets for precision medicine. There is high genomic heterogeneity that may explain differences in outcomes between patient subgroups.
Journal • Tumor Mutational Burden • BRCA Biomarker
|
TP53 (Tumor protein P53) • TMB (Tumor Mutational Burden) • BRCA1 (Breast cancer 1, early onset) • FGFR1 (Fibroblast growth factor receptor 1) • EWSR1 (EWS RNA Binding Protein 1) • PIK3R1 (Phosphoinositide-3-Kinase Regulatory Subunit 1) • RAD50 (RAD50 Double Strand Break Repair Protein) • CHEK1 (Checkpoint kinase 1) • NBN (Nibrin Nijmegen Breakage Syndrome 1 (Nibrin))
|
TMB-L • RAD50 mutation • NBN mutation • PIK3R1 mutation • CHEK1 expression
|
Oncomine™ Comprehensive Assay v3M
9ms
Suppression of PI3K/Akt/mTOR/c-Myc/mtp53 Positive Feedback Loop Induces Cell Cycle Arrest by Dual PI3K/mTOR Inhibitor PQR309 in Endometrial Cancer Cell Lines. (PubMed, Cells)
mtp53 silence enhanced PQR309-inhibited cell viability, spheroid formation, and the expressions of p-Akt, c-Myc, and CDK6. This is the first study to reveal the novel finding of the PI3K/mTOR dual inhibitor in lowering cell viability by abolishing the PI3K/Akt/mTOR/c-Myc/mtp53 positive feedback loop in endometrial cancer cell lines.
Preclinical • Journal
|
KRAS (KRAS proto-oncogene GTPase) • TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • PTEN (Phosphatase and tensin homolog) • MYC (V-myc avian myelocytomatosis viral oncogene homolog) • PIK3R1 (Phosphoinositide-3-Kinase Regulatory Subunit 1) • CDK6 (Cyclin-dependent kinase 6)
|
KRAS mutation • PIK3CA mutation • PTEN mutation • MYC expression • TP53 expression • PIK3R1 mutation • CDK6 expression • CDKN1B expression
|
bimiralisib (PQR309)
9ms
Genomic Landscape of TCR Alpha-Beta and TCR Gamma-Delta T-Large Granular Lymphocyte Leukemia. (PubMed, Blood)
Finally, gene expression analysis revealed enrichment of interferon gamma signaling and decreased PI3K-Akt signaling for STAT3 mutant patients. These findings highlight the clinical and molecular heterogeneity of this rare disorder.
Journal • Tumor Mutational Burden
|
TMB (Tumor Mutational Burden) • DNMT3A (DNA methyltransferase 1) • IFNG (Interferon, gamma) • KMT2D (Lysine Methyltransferase 2D) • TET2 (Tet Methylcytosine Dioxygenase 2) • PIK3R1 (Phosphoinositide-3-Kinase Regulatory Subunit 1) • STAT3 (Signal Transducer And Activator Of Transcription 3) • KDM6A (Lysine Demethylase 6A) • TNFAIP3 (TNF Alpha Induced Protein 3) • STAT5B (Signal Transducer And Activator Of Transcription 5B) • PCDHA1 (Protocadherin Alpha 1)
|
KMT2D mutation • STAT3 mutation • PIK3R1 mutation
9ms
Somatic Mutational Profile of High-Grade Serous Ovarian Carcinoma and Triple-Negative Breast Carcinoma in Young and Elderly Patients: Similarities and Divergences. (PubMed, Cells)
However, in HGSOC, 9.5% and 3.3% of the young and elderly patients, respectively, did not present any tumors with an affected CGC nor did 4.65% and none of the young and elderly TNBC patients. Most HGSOC and TNBC from young and elderly patients present an affected TSG, mainly TP53, as well as mutational signature 3; however, a few tumors only present an affected oncogene or no affected cancer-causing genes.
Clinical • Journal
|
KRAS (KRAS proto-oncogene GTPase) • TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • PTEN (Phosphatase and tensin homolog) • NF1 (Neurofibromin 1) • KMT2C (Lysine Methyltransferase 2C) • PIK3R1 (Phosphoinositide-3-Kinase Regulatory Subunit 1) • ARID1B (AT-Rich Interaction Domain 1B) • RAC1 (Rac Family Small GTPase 1) • PHF6 (PHD Finger Protein 6) • PREX2 (Phosphatidylinositol-3,4,5-Trisphosphate Dependent Rac Exchange Factor 2)
|
TP53 mutation • PIK3CA mutation • TP53 wild-type • PIK3R1 mutation
10ms
Progressive Microsatellite Instability in Recurrent MSI-H Endometrial Adenocarcinomas Coincides with ARID1A Frameshift and CTNNB1 Mutations (USCAP 2022)
In summary, progressive microsatellite instability develops in recurrent tumors of MSI-H endometrial endometrioid carcinomas. Damaging ARID1A mutations were strongly associated with MSI-H endometrial carcinomas and activating CTNNB1 mutations may play an important role in the development of tumor recurrence.
Tumor Mutational Burden • Microsatellite instability • MSi-H Biomarker
|
PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • TMB (Tumor Mutational Burden) • MSI (Microsatellite instability) • PTEN (Phosphatase and tensin homolog) • ARID1A (AT-rich interaction domain 1A) • CTNNB1 (Catenin (cadherin-associated protein), beta 1) • PIK3R1 (Phosphoinositide-3-Kinase Regulatory Subunit 1)
|
MSI-H/dMMR • PIK3CA mutation • PTEN mutation • ARID1A mutation • CTNNB1 mutation • PIK3CA mutation + PTEN mutation • PIK3R1 mutation
|
FoundationOne® CDx
10ms
Adult Granulosa Cell Tumor With Sarcomatous Transformation: A Case Study With Emphasis on Molecular Alterations. (PubMed, Int J Gynecol Pathol)
While detected TERT promoter C228T mutation may play a role in this process, we further identified genetic alterations affecting PI3K/AKT/mTOR pathway, including mutations in PIK3CA, PIK3R1, AKT1, and NF2, which may also contribute to tumor progression/transformation. These findings provide rationale for molecular/pathway-based targeted therapy for patients with advanced AGCT.
Clinical • Journal
|
PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • TERT (Telomerase Reverse Transcriptase) • PIK3R1 (Phosphoinositide-3-Kinase Regulatory Subunit 1) • FOXL2 (Forkhead Box L2)
|
PIK3CA mutation • NF2 mutation • AKT1 mutation • MTOR mutation • PIK3R1 mutation
10ms
Characterization of an Acute Myeloid Leukemia Murine Model Driven By MLL/AF9: Effect of Retroviral Insertion Sites and Somatic Mutations on Gene Expression (ASH 2021)
Moreover, we demonstrated that RISs can have an impact on gene expression. Future work on whether Ppp6r1 and Tm9sf3 identified by our RIS analysis are drivers in MLL/AF9 leukemias is warranted.
Preclinical
|
TP53 (Tumor protein P53) • STK11 (Serine/threonine kinase 11) • BCOR (BCL6 Corepressor) • PIK3R1 (Phosphoinositide-3-Kinase Regulatory Subunit 1) • GATA2 (GATA Binding Protein 2) • EPHA5 (EPH Receptor A5)
|
MLL rearrangement • PIK3R1 mutation
10ms
Construction of circRNA-miRNA-mRNA network and identification of novel potential biomarkers for non-small cell lung cancer. (PubMed, Cancer Cell Int)
We constructed the circRNA-miRNA-mRNA network that might provide novel insights into the pathogenesis of NSCLC and reveal promising immune infiltration and prognostic biomarkers.
Journal
|
PIK3R1 (Phosphoinositide-3-Kinase Regulatory Subunit 1)
|
PIK3R1 mutation
11ms
Resistance of B-Cell Lymphomas to CAR T-Cell Therapy Is Associated With Genomic Tumor Changes Which Can Result in Transdifferentiation. (PubMed, Am J Surg Pathol)
These results indicate that CART-resistant B-cell non-Hodgkin lymphomas display genetic remodeling, which may result in profound dysregulation of B-cell differentiation. Acquired mutations in the PI3K and KRAS pathways suggest that some targeted therapies could be useful to overcome CART resistance.
Journal • CAR T-Cell Therapy
|
KRAS (KRAS proto-oncogene GTPase) • TP53 (Tumor protein P53) • SF3B1 (Splicing Factor 3b Subunit 1) • PIK3R1 (Phosphoinositide-3-Kinase Regulatory Subunit 1) • INPP4B (Inositol polyphosphate-4-phosphatase type II B) • SYNE1 (Spectrin Repeat Containing Nuclear Envelope Protein 1) • PIK3R2 (Phosphoinositide-3-Kinase Regulatory Subunit 2 )
|
KRAS mutation • TP53 deletion • PIK3R1 mutation
11ms
TP53-mutant Oligodendroglioma: A Single Institution Case Series (SNO 2021)
Two (of 3) patients with a WHO grade II tumor underwent biopsy and radiotherapy at diagnosis followed by temozolomide at recurrence (progression at 67 and 157 months after diagnosis; overall survival of 124 and 201 months)...Five (of 7) cases, including the 3 hypermutant cases, lacked functional TP53 (1 case with 2 mutations, 2 cases with 1 mutation plus loss of other copy, 2 cases with 1 mutation plus copy neutral loss-of-heterozygosity). TP53 mutations are uncommon in oligodendroglioma and appear enriched in hypermutant tumors.
Clinical
|
TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • NF1 (Neurofibromin 1) • TERT (Telomerase Reverse Transcriptase) • PIK3R1 (Phosphoinositide-3-Kinase Regulatory Subunit 1) • SETD2 (SET Domain Containing 2, Histone Lysine Methyltransferase)
|
TP53 mutation • PIK3CA mutation • TERT mutation • PIK3R1 mutation • TERT promoter mutation
|
temozolomide
11ms
[VIRTUAL] Gene Expression and Mutation Analysis of Early-Stage Recurrent Endometrial Cancer (ASTRO 2021)
Of recurrent early-stage tumors within the TCGA-UCEC dataset, of which as least a majority classify as intermediate or unfavorable according to PORTEC-4a criteria, differential gene expression in recurrent tumors compared to not recurrent tumors demonstrate relative increased expression of genes involved in catabolic and cell cycle processes. PORTEC-4a does not employ gene expression signatures to distinguish amongst favorable, intermediate, and unfavorable subtypes of early-stage endometrial tumors. However, further investigation may prove gene expression incorporation into stratification beneficial.
TP53 (Tumor protein P53) • MSI (Microsatellite instability) • POLE (DNA Polymerase Epsilon) • CTNNB1 (Catenin (cadherin-associated protein), beta 1) • PIK3R1 (Phosphoinositide-3-Kinase Regulatory Subunit 1) • PIK3CB (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta) • DDIT3 (DNA-damage-inducible transcript 3) • EMSY (EMSY Transcriptional Repressor BRCA2 Interacting)
|
TP53 mutation • POLE mutation • CTNNB1 mutation • PIK3R1 mutation • PIK3CB mutation
11ms
Gene Expression and Mutation Analysis of Early-Stage Recurrent Endometrial Cancer. (PubMed, Int J Radiat Oncol Biol Phys)
Of recurrent early-stage tumors within the TCGA-UCEC dataset, of which as least a majority classify as intermediate or unfavorable according to PORTEC-4a criteria, differential gene expression in recurrent tumors compared to not recurrent tumors demonstrate relative increased expression of genes involved in catabolic and cell cycle processes. PORTEC-4a does not employ gene expression signatures to distinguish amongst favorable, intermediate, and unfavorable subtypes of early-stage endometrial tumors. However, further investigation may prove gene expression incorporation into stratification beneficial.
Journal
|
TP53 (Tumor protein P53) • MSI (Microsatellite instability) • POLE (DNA Polymerase Epsilon) • CTNNB1 (Catenin (cadherin-associated protein), beta 1) • PIK3R1 (Phosphoinositide-3-Kinase Regulatory Subunit 1) • PIK3CB (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta) • DDIT3 (DNA-damage-inducible transcript 3) • EMSY (EMSY Transcriptional Repressor BRCA2 Interacting)
|
TP53 mutation • POLE mutation • CTNNB1 mutation • PIK3R1 mutation • PIK3CB mutation