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16d
Epidermal Growth Factor Receptor (EGFR) and SMAD4 negatively correlated in the progression of gallbladder cancer in Eastern Indian patients. (PubMed, BMC Gastroenterol)
EGFR and SMAD4 expression were found to be negatively correlated in GBC tissue samples. ERBB2 overexpression/amplification was observed in 30% of the GBC samples. We also found a low percentage of GBC samples to show KRAS codon 12 mutation in Indian GBC patient population, as had been previously documented in pancreatic cancers.
Journal
|
EGFR (Epidermal growth factor receptor) • HER-2 (Human epidermal growth factor receptor 2) • KRAS (KRAS proto-oncogene GTPase) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • CCND1 (Cyclin D1) • SMAD4 (SMAD family member 4) • TGFB1 (Transforming Growth Factor Beta 1)
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KRAS mutation • EGFR mutation • HER-2 overexpression • HER-2 amplification • HER-2 expression • EGFR expression • MYC expression • CCND1 expression • HER-2 I655V • KRAS exon 3 mutation • SMAD4 expression
8ms
HER2 mutations in advanced cervical neuroendocrine carcinoma: implications for trastuzumab deruxtecan therapy. (PubMed, Naunyn Schmiedebergs Arch Pharmacol)
The 41.7% HER2 mutation rate warrants expanded screening and future clinical investigation of the T-DXd targeting HER2 mutations in cervical NEC patients. Overall, this study contributes to the molecular understanding of cervical NEC and lays the groundwork for developing more effective treatment strategies.
Journal • Metastases
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HER-2 (Human epidermal growth factor receptor 2)
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HER-2 mutation • HER-2 I655V
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Enhertu (fam-trastuzumab deruxtecan-nxki)
over1year
Unraveling the Mystery: Next Generation Sequencing Sheds Light on Neuroblastoma Pathogenesis and Targeted Therapies. (PubMed, Front Biosci (Landmark Ed))
This study presents valuable mutation data for relapsed and refractory NB patients. The high frequency of the ERBB2 I655V mutation may allow further exploration of this mutation as a potential therapeutic target. Rare BRAF mutations may also provide opportunities for targeted therapy. The role of ABL1 mutations in NB should also be explored further.
Journal • Next-generation sequencing
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HER-2 (Human epidermal growth factor receptor 2) • BRAF (B-raf proto-oncogene) • ALK (Anaplastic lymphoma kinase) • ABL1 (ABL proto-oncogene 1) • ROS1 (Proto-Oncogene Tyrosine-Protein Kinase ROS) • NTRK1 (Neurotrophic tyrosine kinase, receptor, type 1) • NTRK3 (Neurotrophic tyrosine kinase, receptor, type 3) • FGFR3 (Fibroblast growth factor receptor 3)
|
BRAF mutation • NTRK1 fusion • HER-2 mutation • ALK fusion • ALK mutation • RET mutation • FGFR3 fusion • ALK R1275Q • HER-2 I655V • NTRK1 mutation
over1year
Thymic epithelial tumours present the number of known and novel gene variants in molecular analysis using targeted next-generation sequencing (ERS 2023)
NGS analysis of TETs revealed several somatic variants in genes related to the p53, AKT, MAPK, and K-Ras signalling pathways. TCs showed greater genetic dysregulation than TMs. KIT alterations in TCs have potential as therapeutic targets.
Next-generation sequencing
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HER-2 (Human epidermal growth factor receptor 2) • KRAS (KRAS proto-oncogene GTPase) • TP53 (Tumor protein P53) • FOXL2 (Forkhead Box L2)
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KIT L576P • HER-2 I655V • KIT M541L • KRAS Q61L • TP53 R273C
over2years
Targeted Next-Generation Sequencing of Thymic Epithelial Tumours Revealed Pathogenic Variants in KIT, ERBB2, KRAS, and TP53 in 30% of Thymic Carcinomas. (PubMed, Cancers (Basel))
The germline and rare SNVs of uncertain clinical significance reported in this study add to the number of known genetic alterations in TETs, thus extending our molecular understanding of these neoplasms. Druggable KIT alterations in thymic carcinomas have potential as therapeutic targets.
Journal • Next-generation sequencing
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HER-2 (Human epidermal growth factor receptor 2) • KRAS (KRAS proto-oncogene GTPase) • TP53 (Tumor protein P53) • FOXL2 (Forkhead Box L2)
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KIT L576P • HER-2 I655V • KIT M541L • KRAS Q61L • TP53 R273C
over2years
A Study of Poziotinib in Patients With Epidermal Growth Factor Receptor (EGFR) or Human Epidermal Growth Factor Receptor 2 (HER2) Activating Mutations in Advanced Malignancies (clinicaltrials.gov)
P2, N=1, Terminated, Spectrum Pharmaceuticals, Inc | N=150 --> 1 | Trial completion date: Dec 2023 --> Mar 2022 | Recruiting --> Terminated | Trial primary completion date: Jun 2023 --> Mar 2022; Strategic business decision (unrelated to safety)
Enrollment change • Trial completion date • Trial termination • Trial primary completion date
|
EGFR (Epidermal growth factor receptor) • HER-2 (Human epidermal growth factor receptor 2) • ER (Estrogen receptor) • PGR (Progesterone receptor) • MSI (Microsatellite instability)
|
HER-2 positive • EGFR mutation • MSI-H/dMMR • HER-2 negative • EGFR L858R • HER-2 exon 20 insertion • EGFR L861Q • EGFR G719X • ER negative • EGFR S768I • HER-2 S310F • EGFR positive • HER-2 I655V • HER-2 L869R • HER-2 V842I • EGFR P596L • EGFR R222C • EGFR A750P • EGFR E746 • EGFR L833V • HER-2 R678Q • PGR negative • EGFR V774M
|
Pozenveo (poziotinib) • loperamide
almost4years
BCL-2 (-938C>A), BAX (-248G>A), and HER2 Ile655Val Polymorphisms and Breast Cancer Risk in Indian Population. (PubMed, J Oncol)
This present study for the first time shows significant association of HER2 Ile655Val polymorphism with risk of breast cancer in Indian population. Therefore, we suggest that each population need to evaluate its own genetic profile for breast cancer risk that may be helpful for better understanding the racial and geographic differences reported for breast cancer incidence and mortality.
Clinical • Journal • IO biomarker
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HER-2 (Human epidermal growth factor receptor 2) • BCL2 (B-cell CLL/lymphoma 2)
|
HER-2 I655V
almost4years
Design and characterization of a SYBR Green I-based melting curve method for investigation of HER2I655V polymorphism in breast cancer. (PubMed, J Genet Eng Biotechnol)
This approach may be considered as simple, rapid, and low cost supporting the rapid study of HER2 epidemiology. Furthermore, the developed methods potentially facilitate clinicians in dealing with breast cancer patients, especially in considering about the cardiotoxicity effect of trastuzumab.
Journal
|
HER-2 (Human epidermal growth factor receptor 2)
|
HER-2 amplification • HER-2 I655V
|
Herceptin (trastuzumab)
almost5years
A Study of Poziotinib in Patients With EGFR or HER2 Activating Mutations in Advanced Malignancies (clinicaltrials.gov)
P2, N=150, Recruiting, Spectrum Pharmaceuticals, Inc | Not yet recruiting --> Recruiting
Clinical • Enrollment open
|
EGFR (Epidermal growth factor receptor)
|
EGFR mutation • HER-2 amplification • EGFR L858R • HER-2 mutation • EGFR T790M • HER-2 exon 20 insertion • EGFR L861Q • EGFR G719X • EGFR S768I • HER-2 S310F • HER-2 V777L • EGFR E709K • HER-2 I655V • HER-2 L869R • HER-2 V842I • EGFR P596L • EGFR R222C • HER-2 T798M • EGFR E746 • HER-2 D769H • HER-2 R678Q • HER-2 T798I • HER-2 mutation + HER-2 T798I • EGFR V774M
|
Pozenveo (poziotinib)