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1year
Biomarkers in metastatic breast cancer with brain metastases – a subanalysis of matched tumor samples of the BMBC registry (SABCS 2024)
Our analysis identified AIMS subtype and HER2 IHC classification switches from primary BC to BM in matched pairs that could be relevant for prognosis and treatment decisions. In addition, our preliminary differential gene expression analyses showed clear differences in various cellular processes between BC and BM tissues. Whether these differences reflect a selection process or rather an adaptation mechanism to a new environment remains to be investigated.
Metastases
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HER-2 (Human epidermal growth factor receptor 2) • ER (Estrogen receptor) • PTTG1 (PTTG1 Regulator Of Sister Chromatid Separation, Securin) • CDC20 (Cell Division Cycle 20) • CCNF (Cyclin F)
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ER positive • HER-2 overexpression
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HTG EdgeSeq Oncology Biomarker Panel (OBP)
over1year
Molecular characterization of growing teratoma syndrome in patients with testicular germ cell tumor. (ASCO 2024)
This molecular profiling identify genes differentially expressed in teratomas that are potential biomarkers for prediction of teratoma element in postchemotherapy residues in testicular germ cell tumor patients. Moreover, inhibition of identified signaling pathways associated with GTS could represent potentially novel therapeutic targets in case of unresectable disease.
Clinical
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CCL20 (C-C Motif Chemokine Ligand 20) • HMOX1 (Heme Oxygenase 1) • GPNMB (Glycoprotein Nmb) • CXCL6 (C-X-C Motif Chemokine Ligand 6) • CCL18 (C-C Motif Chemokine Ligand 18) • IGFBP1 (Insulin Like Growth Factor Binding Protein 1) • PFKFB3 (6-Phosphofructo-2-Kinase/Fructose-2,6-Biphosphatase 3)
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HTG EdgeSeq Oncology Biomarker Panel (OBP)
over1year
Relationship of adaptive subtyping and tumour heterogeneity of treatment response to neoadjuvant therapy in hormone receptor–positive HER2-negative early breast cancer: PENELOPE-B. (ASCO 2024)
A total of 1250 ER+/HER2- BC patients (pts) with residual disease after NACT and increased risk (CPS-EG score of ≥3 or 2 with ypN+) were randomized into the PENELOPE-B (NCT01864746) trial to receive palbociclib or placebo... Classical approach of intrinsic subtyping relies on constant gene expression, limiting its scope. Adaptive subtyping can complement the classical approach, focusing on those genes that are changed during therapy. Comparison of paired samples before and after therapy is superior to classical subtyping of baseline samples.
Clinical
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HER-2 (Human epidermal growth factor receptor 2) • ER (Estrogen receptor)
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HTG EdgeSeq Oncology Biomarker Panel (OBP)
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Ibrance (palbociclib)
almost2years
Gene expression signatures from FFPE kidney tumor samples can predict for clinically indolent renal oncocytic tumors (USCAP 2024)
A focused gene expression signature from FFPE kidney tumor samples can accurately predict for clinically indolent renal oncocytic tumors and for indolent ChRCC. These signatures can potentially help patients to avoid invasive procedures if applied to biopsies; and they can provide prognostic information that may provide reassurance and influence follow up if applied to tumor resections.
Clinical
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HTG EdgeSeq Oncology Biomarker Panel (OBP)
almost2years
Mesenteric fibrosis in patients with small intestinal neuroendocrine tumors is associated with enrichment of alpha-smooth muscle actin-positive fibrosis and COMP-expressing stromal cells. (PubMed, J Neuroendocrinol)
IHC staining confirmed the enrichment of α-smooth muscle actin-positive fibrosis in MF+ compared to MF- patients with corresponding increase of COMP-expressing stromal cells in MF+. Since COMP is associated with the known driver for fibrosis development transforming growth factor beta and with a cancer-associated fibroblasts enriched environment, it seems to be a promising new target for MF research.
Journal • Stroma
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COL1A1 (Collagen Type I Alpha 1 Chain) • HMGA2 (High mobility group AT-hook 2) • SLC22A3 (Solute Carrier Family 22 Member 3) • COL11A1 (Collagen Type XI Alpha 1 Chain) • COMP (Cartilage Oligomeric Matrix Protein)
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SLC22A3 expression
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HTG EdgeSeq Oncology Biomarker Panel (OBP)
2years
Molecular characterization of primary tumors associated with various CTCs' subpopulation. (SABCS 2023)
In this study for the first-time revealed gene expressions associated with various CTC subpopulations. We suppose that these genes could represent potential therapeutic target aimed to inhibit metastatic cascade in breast cancer.
Clinical
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CDK4 (Cyclin-dependent kinase 4) • KRT19 (Keratin 19) • TWIST1 (Twist Family BHLH Transcription Factor 1) • FGF10 (Fibroblast Growth Factor 10) • SEC61G (SEC61 Translocon Subunit Gamma) • SNAI1 (Snail Family Transcriptional Repressor 1) • SNAI2 (Snail Family Transcriptional Repressor 2) • ZEB1 (Zinc Finger E-box Binding Homeobox 1) • CHGA (Chromogranin A) • COL2A1 (Collagen Type II Alpha 1 Chain) • HNF1A (HNF1 Homeobox A) • MMP7 (Matrix metallopeptidase 7) • SMAD2 (SMAD Family Member 2)
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ZEB1 expression
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HTG EdgeSeq Oncology Biomarker Panel (OBP)
2years
KEAP1 DRIVES PEDIATRIC THYROID TUMORS (ATA 2023)
The increased resistance to stress is advantageous for cancer cell proliferation and chemoresistance, indicating the importance of this mutation in thyroid cancer. We are currently employing CRISPR/Cas9 to create KEAP1 knockout thyroid cancer cell lines to better understand this tumor suppressor gene on thyroid cancer.
Clinical
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KEAP1 (Kelch Like ECH Associated Protein 1) • AKR1C3 (Aldo-Keto Reductase Family 1 Member C3) • EGF (Epidermal growth factor) • NQO1 (NAD(P)H dehydrogenase, quinone 1)
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KEAP1 mutation
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HTG EdgeSeq Oncology Biomarker Panel (OBP)
almost3years
Characterization of the non-ATP competitive PI3Kdelta inhibitor IOA-244 in lymphoma models: From single agent to combination screen and clinical investigation (ESMO-TAT 2023)
Conclusions Single-agent IOA-244 has moderate activity in vitro in lymphoma, correlated with PI3Kδ expression. Given its favorable monotherapy safety profile, IOA-244 may be used in combination with drugs identified in the present pharmacological screen.
Clinical
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MYD88 (MYD88 Innate Immune Signal Transduction Adaptor) • PIK3CD (Phosphatidylinositol-4 5-Bisphosphate 3-Kinase Catalytic Subunit Delta)
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HTG EdgeSeq Oncology Biomarker Panel (OBP)
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roginolisib (IOA-244)
almost3years
Predicting Response to CDK4/6 Inhibitors in Breast Cancer (USCAP 2023)
Design: In this cohort of 235 patients, >90% of patients were treated with Palbociclib in combination with either an aromatase inhibitor (AI) or fulvestrant (FUL). Tumor evolution occurs on treatment with CDK4/6i; however, analyses of pretreatment biopsies can inform the duration of PFS. These data support discrete biological processes associated with sensitivity/resistance. Predictive algorithms could be developed to inform features of treatment decision which will require prospective validation which is ongoing.
HER-2 (Human epidermal growth factor receptor 2) • PGR (Progesterone receptor)
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HTG EdgeSeq Oncology Biomarker Panel (OBP) • Breast Cancer Index®
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Ibrance (palbociclib) • fulvestrant
almost3years
New P2 trial
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HER-2 (Human epidermal growth factor receptor 2) • ER (Estrogen receptor) • PGR (Progesterone receptor)
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HER-2 negative • ER expression
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HTG EdgeSeq Oncology Biomarker Panel (OBP)
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tamoxifen • giredestrant (RG6171)
almost3years
Use of distinct molecular signatures of appendiceal cancer subtypes to assess biomarker development. (ASCO-GI 2023)
In this study, downregulated gene expressions in appendiceal cancers are related to cell proliferation and death control mechanisms, with a trend towards overexpression of inflammatory and cell cycle pathways. It is postulated that genes involved in these pathways are hypermethylated. More research is being undertaken on epigenetics-based biomarkers for diagnosis and prognosis.
PD(L)-1 Biomarker • IO biomarker
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TP53 (Tumor protein P53) • IFNG (Interferon, gamma) • IL6 (Interleukin 6) • FGF2 (Fibroblast Growth Factor 2) • POU5F1 (POU Class 5 Homeobox 1) • NANOG (Nanog Homeobox) • E2F1 (E2F transcription factor 1)
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HTG EdgeSeq Oncology Biomarker Panel (OBP)
3years
Development and validation of a composite biomarker predictive of Palbociclib + endocrine treatment benefit in early breast cancer: PENELOPE-B and PALLAS Trials (SABCS 2022)
The composite predictive biomarker defined from PENELOPE-B was independently validated in a prospectively defined retrospective analysis of a subset of patients selected from PALLAS. The composite biomarker identified a subset of EBC patients deriving benefit from the addition of PAL to ET. This patient stratification approach can potentially be applied to future adjuvant clinical trials for treatment of hormone receptor–positive/HER2– EBC.
HER-2 (Human epidermal growth factor receptor 2)
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HER-2 positive • HR positive • HER-2 negative • EGFR positive
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HTG EdgeSeq Oncology Biomarker Panel (OBP)
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Ibrance (palbociclib)