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BIOMARKER:

RNF43 mutation

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Other names: RNF43, Ring Finger Protein 43, RING-Type E3 Ubiquitin Transferase RNF43, E3 Ubiquitin-Protein Ligase RNF43, RING Finger Protein 43, EC 2.3.2.27, RNF124
Entrez ID:
Related biomarkers:
2d
Selective epigenetic alterations in RNF43 in pancreatic exocrine cells from high-fat-diet-induced obese mice; implications for pancreatic cancer. (PubMed, BMC Res Notes)
Results revealed no significant differences in methylation levels in loci between HFD- and normal-fat-diet (NFD)-fed mice, except for RNF43, a negative regulator of Wnt signaling, which showed hypermethylation in three loci. These findings indicate that, in mouse pancreatic exocrine cells, high-fat dietary obesity induced aberrant DNA methylation in RNF43 but not in other frequently mutated PC-related genes.
Preclinical • Journal
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KRAS (KRAS proto-oncogene GTPase) • TP53 (Tumor protein P53) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • RNF43 (Ring Finger Protein 43) • SMAD4 (SMAD family member 4) • GNAS (GNAS Complex Locus)
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TP53 mutation • KRAS mutation • RNF43 mutation
15d
Recurrent mutations in tumor suppressor FBXW7 bypass Wnt/β-catenin addiction in cancer. (PubMed, Sci Adv)
These FBXW7-mutant Wnt/β-catenin-independent tumors are susceptible to multi-cyclin-dependent kinase inhibition. An in-depth understanding of primary resistance to anti-Wnt/β-catenin therapies allows for more appropriate patient selection and use of alternative mechanism-based therapies.
Journal
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RNF43 (Ring Finger Protein 43) • CTNNB1 (Catenin (cadherin-associated protein), beta 1) • FBXW7 (F-Box And WD Repeat Domain Containing 7)
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FBXW7 mutation • RNF43 mutation
20d
NGS of brush cytology samples improves the detection of high-grade dysplasia and cholangiocarcinoma in patients with primary sclerosing cholangitis: A retrospective and prospective study. (PubMed, Hepatol Commun)
In summary, NGS of BC samples increased the sensitivity of detecting biliary neoplasia compared with traditional cytology. Performing NGS on BC samples may help diagnose HGD or early CCA, benefiting the timing of liver transplantation.
Retrospective data • Journal • Next-generation sequencing • Cytology
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KRAS (KRAS proto-oncogene GTPase) • BRAF (B-raf proto-oncogene) • TP53 (Tumor protein P53) • FLT3 (Fms-related tyrosine kinase 3) • ATM (ATM serine/threonine kinase) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • RNF43 (Ring Finger Protein 43) • SMAD4 (SMAD family member 4) • FBXW7 (F-Box And WD Repeat Domain Containing 7) • ATRX (ATRX Chromatin Remodeler) • GNAS (GNAS Complex Locus)
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TP53 mutation • BRAF mutation • ATM mutation • RNF43 mutation • GNAS mutation
1m
Ring Finger 43 Hot-spot Frameshift Mutation G659V in Colorectal Cancer Patients: Report from a Tertiary Cancer Care Hospital in North India. (PubMed, Int J Appl Basic Med Res)
To the best of our knowledge, this is the first study from North India to show the involvement of RNF43 p.G659fs variant in CRC patients. The mutation correlated with MMR protein deficiency and seems to be conferring tumorigenicity independent of the Wnt pathway.
Journal
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RNF43 (Ring Finger Protein 43)
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RNF43 mutation • RNF43 G659fs
2ms
A Study of E7386 in Participants With Advanced Solid Tumor Including Colorectal Cancer (CRC) (clinicaltrials.gov)
P1, N=70, Active, not recruiting, Eisai Co., Ltd. | Recruiting --> Active, not recruiting
Enrollment closed • Metastases
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RNF43 (Ring Finger Protein 43) • APC (APC Regulator Of WNT Signaling Pathway) • AXIN1 (Axin 1) • ZNRF3 (Zinc And Ring Finger 3)
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APC mutation • CTNNB1 mutation • RNF43 mutation
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E7386
2ms
Mucin phenotype and genetic alterations in non-V600E BRAF-mutated colorectal cancer. (PubMed, Hum Pathol)
Considering the differences in mucin phenotype and genetic alterations, different modes of tumorigenesis are assumed for CRC with BRAF V600E mutation and non-V600E mutations. These findings are important in understanding the biology and treatment strategies for BRAF-mutant CRC.
Journal
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BRAF (B-raf proto-oncogene) • RNF43 (Ring Finger Protein 43) • APC (APC Regulator Of WNT Signaling Pathway) • MME (Membrane Metalloendopeptidase) • MUC2 (Mucin 2) • MUC5AC (Mucin 5AC) • MUC6 (Mucin 6)
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BRAF V600E • APC mutation • RNF43 mutation • MUC5AC expression
2ms
Association of RNF43 Genetic Alterations With BRAFV600E and MSIhigh in Colorectal Cancer. (PubMed, JCO Precis Oncol)
Ongoing phase III clinical trials, such as BREAKWATER, should aim to incorporate broader genetic profiling to further validate the superior sensitivity of patients with RNF43-mutant, MSS BRAFV600E CRC to anti-EGFR-/BRAFi-based therapies.
Journal • Tumor mutational burden
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TMB (Tumor Mutational Burden) • RNF43 (Ring Finger Protein 43)
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BRAF V600E • MSI-H/dMMR • BRAF V600 • RNF43 mutation • BRAF V600E + MSI-H/dMMR
2ms
Neoplastic Progression in Macroscopic Precursor Lesions of the Pancreas. (PubMed, Arch Pathol Lab Med)
The recurrent alterations described in cysts provide an opportunity for diagnosis using aspirated cyst fluid. Molecular characterization of IPMNs shows a striking spatial and mutational heterogeneity, challenging traditional models of neoplastic development and creating challenges to interpretation of cyst fluid sequencing results.
Journal
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KRAS (KRAS proto-oncogene GTPase) • TP53 (Tumor protein P53) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • RNF43 (Ring Finger Protein 43) • SMAD4 (SMAD family member 4) • GNAS (GNAS Complex Locus) • PRKACA (Protein Kinase CAMP-Activated Catalytic Subunit Alpha) • PRKACB (Protein Kinase CAMP-Activated Catalytic Subunit Beta)
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TP53 mutation • KRAS mutation • RNF43 mutation • GNAS mutation
2ms
New insights in ubiquitin-dependent Wnt receptor regulation in tumorigenesis. (PubMed, In Vitro Cell Dev Biol Anim)
RNF43 may simultaneously play different roles in classical multistep tumorigenesis, as both wild-type and mutant RNF43 suppress the p53 pathway. We hope that the knowledge obtained from further research in RNF43 will be applied to cancer treatment in the future despite the fully unclear function of RNF43.
Review • Journal
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RNF43 (Ring Finger Protein 43) • CTNNB1 (Catenin (cadherin-associated protein), beta 1)
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TP53 mutation • RNF43 mutation
2ms
Molecular and Clinical Characterization of Oncocytic Intraductal Papillary Neoplasms of the Pancreas (USCAP 2024)
The presence of a PRKACA/B fusion appears to contribute to oncocytic morphology, but 71% of fusion-positive cases had mixed epithelial subtypes. Rare cases harbored concurrent fusion and driver mutation associated with IPMN. Though fusion-positive lesions were more commonly seen in the non-recurrence group, they also comprised >50% of cases with disease recurrence.
Clinical
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KRAS (KRAS proto-oncogene GTPase) • RNF43 (Ring Finger Protein 43) • SMAD4 (SMAD family member 4) • GNAS (GNAS Complex Locus) • PRKACA (Protein Kinase CAMP-Activated Catalytic Subunit Alpha)
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KRAS mutation • RNF43 mutation • SMAD4 deletion • GNAS mutation • KRAS deletion
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OncoPanel™ Assay
3ms
Genomic characterization and immunotherapy for microsatellite instability-high in cholangiocarcinoma. (PubMed, BMC Med)
MSI-H status was associated with a higher TMB value and more positive PD-L1 expression in CCA tumors. Moreover, in patients with advanced CCA who received PD-1 inhibitor-based immunotherapy, MSI-H and positive PD-L1 expression were associated with improved both OS and PFS.
Journal • Tumor mutational burden • Microsatellite instability • MSi-H Biomarker • PD(L)-1 Biomarker • IO biomarker
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TMB (Tumor Mutational Burden) • MSI (Microsatellite instability) • ARID1A (AT-rich interaction domain 1A) • PBRM1 (Polybromo 1) • KMT2D (Lysine Methyltransferase 2D) • RNF43 (Ring Finger Protein 43) • TGFBR2 (Transforming Growth Factor Beta Receptor 2) • ACVR2A (Activin A Receptor Type 2A)
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PD-L1 expression • TMB-H • MSI-H/dMMR • ARID1A mutation • PBRM1 mutation • RNF43 mutation • PD-L1 expression + MSI-H/dMMR
3ms
RNF43 Inactivation Enhances the B-RAF/MEK Signaling and Creates a Combinatory Therapeutic Target in Cancer Cells. (PubMed, Adv Sci (Weinh))
MEK and WNT inhibitors synergistically suppress the growth of RNF43-mutated pancreatic cancer cells in vitro and in vivo. Collectively, the research reveals a novel mechanism by which RNF43 inhibits B-RAF/MEK signaling to suppress tumor growth and provide a new strategy for the treatment of RNF43-inactivated pancreatic cancer.
Journal
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BRAF (B-raf proto-oncogene) • RNF43 (Ring Finger Protein 43)
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RNF43 mutation
3ms
Clinical and molecular characteristics of RNF43 mutations as promising prognostic biomarkers in colorectal cancer. (PubMed, Ther Adv Med Oncol)
Moreover, we observed that pMMR/MSS patients with RNF43 R117fs mutation had a higher incidence of stage IV, ⩾2 metastatic sites, low TMB, and none of them received PD-1/PD-L1 inhibitor therapy. Our findings provide the first evidence that RNF43 mutations in NTD and the R117fs variant correlate with a poorer prognosis in CRC patients, providing strategies for Wnt-targeted therapy to improve clinical efficacy.
Journal • Tumor mutational burden • MSi-H Biomarker • PD(L)-1 Biomarker • IO biomarker
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TMB (Tumor Mutational Burden) • MSI (Microsatellite instability) • RNF43 (Ring Finger Protein 43)
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BRAF V600E • TMB-H • MSI-H/dMMR • BRAF V600 • TMB-L • RNF43 mutation
3ms
Trial completion • Metastases
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RNF43 (Ring Finger Protein 43)
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RNF43 mutation
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Keytruda (pembrolizumab) • Prolia (denosumab) • zamaporvint (RXC004)
3ms
Revisiting the performance of cyst fluid carcinoembryonic antigen as a diagnostic marker for pancreatic mucinous cysts: a comprehensive 20-year institutional review. (PubMed, Gut)
Cyst fluid CEA continues to be a useful test in the diagnosis of mucinous pancreatic cysts but does not appear as specific as previously reported. Raising the CEA threshold to 250 ng/mL to maintain specificity for differentiating mucinous from non-mucinous cysts may be considered.
Review • Journal
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KRAS (KRAS proto-oncogene GTPase) • RNF43 (Ring Finger Protein 43) • CEACAM5 (CEA Cell Adhesion Molecule 5) • GNAS (GNAS Complex Locus)
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RNF43 mutation • GNAS mutation
4ms
Canonical Wnt signaling pathway (WSP) alterations in metastatic prostate cancer. (ASCO-GU 2024)
WSP-act prostate cancer demonstrated a pronounced upregulation of ROR1 gene expression, underscoring its potential involvement in the crosstalk between the canonical and non-canonical Wnt signaling pathways. Additionally, the augmented levels of M2 macrophages in WSP-act tumors, combined with the reported role of ROR1 in tumor immunosuppression, suggests that ROR1 may contribute to immune evasion in WSP-act mPCa. Our findings may provide rationale for developing novel therapeutic strategies targeting Wnt-activated prostate cancers.
MSi-H Biomarker • Metastases
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RNF43 (Ring Finger Protein 43) • CTNNB1 (Catenin (cadherin-associated protein), beta 1) • ROR1 (Receptor Tyrosine Kinase Like Orphan Receptor 1) • SPOP (Speckle Type BTB/POZ Protein) • RSPO2 (R-Spondin 2)
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MSI-H/dMMR • ROR1 expression • RNF43 mutation • SPOP mutation • RNF43 G659fs • CTNNB1 expression
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MI Tumor Seek™
5ms
RNF43 mutation as a predictor of immunotherapeutic efficacy in colorectal cancer. (PubMed, Am J Cancer Res)
Our results suggest that RNF43 mutation may correlate with better OS in CRC patients receiving PD-1/PD-L1 inhibitors. The exact mechanisms underlying RNF43 require further investigation.
Journal • Tumor mutational burden • MSi-H Biomarker • PD(L)-1 Biomarker • IO biomarker
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KRAS (KRAS proto-oncogene GTPase) • TP53 (Tumor protein P53) • TMB (Tumor Mutational Burden) • MSI (Microsatellite instability) • CD8 (cluster of differentiation 8) • RNF43 (Ring Finger Protein 43) • TGFBR2 (Transforming Growth Factor Beta Receptor 2)
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PD-L1 expression • TP53 mutation • KRAS mutation • TMB-H • MSI-H/dMMR • RNF43 mutation
5ms
LMTK3 gene expression and the molecular landscape of colorectal cancer (CRC). (ASCO-GI 2024)
Our data show a strong association between LMTK3 gene expression and distinct molecular features and TME immune cell infiltration in CRC. These findings suggest that LMTK3 may be an important molecular factor that plays a role in determining the composition of the TME, thus targeting LMTK3 could represent a novel strategy in selected CRC subgroups.
MSi-H Biomarker • IO biomarker
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ER (Estrogen receptor) • TP53 (Tumor protein P53) • TMB (Tumor Mutational Burden) • MSI (Microsatellite instability) • ATM (ATM serine/threonine kinase) • ASXL1 (ASXL Transcriptional Regulator 1) • KMT2A (Lysine Methyltransferase 2A) • IFNG (Interferon, gamma) • RNF43 (Ring Finger Protein 43) • SMAD4 (SMAD family member 4) • CD4 (CD4 Molecule) • CDX2 (Caudal Type Homeobox 2) • AMER1 (APC Membrane Recruitment Protein 1)
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TP53 mutation • TMB-H • MSI-H/dMMR • ATM mutation • ASXL1 mutation • APC mutation • RNF43 mutation • SMAD4 mutation • MLL mutation
5ms
Identification and characterization of immunogenic neoantigens in colorectal cancer (CRC). (ASCO-GI 2024)
This is one of the largest studies to investigate the landscape of immunogenic neoantigens in CRC. We were able to identify candidate recurrent peptides with high HLA binding affinity and an association with a positive TIS signature supporting the role of neoantigens as potential cancer immunotherapy targets.
MSi-H Biomarker • IO biomarker
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MSI (Microsatellite instability) • ASXL1 (ASXL Transcriptional Regulator 1) • KMT2D (Lysine Methyltransferase 2D) • RNF43 (Ring Finger Protein 43) • APC (APC Regulator Of WNT Signaling Pathway) • MSH3 (MutS Homolog 3) • SOX9 (SRY-Box Transcription Factor 9)
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MSI-H/dMMR • APC mutation • RNF43 mutation • MSH3 mutation
5ms
The impact of Wnt pathway alterations including RNF43, GNAS, CTNNB1, and APC on prognosis and potential therapeutic vulnerability in pancreatic adenocarcinoma (PDAC). (ASCO-GI 2024)
Hazard ratios and p-values were computed via Cox regression when comparing PFS within subsets that received either 1st line FOLFIRINOX (FFX) or 1st line gemcitabine/nab-paclitaxel (GA)... The presence of Wnt pathway alterations identifies a subgroup of advanced PDAC with improved PFS and OS. >
MSi-H Biomarker
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KRAS (KRAS proto-oncogene GTPase) • TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • RNF43 (Ring Finger Protein 43) • CTNNB1 (Catenin (cadherin-associated protein), beta 1) • APC (APC Regulator Of WNT Signaling Pathway) • GNAS (GNAS Complex Locus)
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TP53 mutation • KRAS mutation • MSI-H/dMMR • PIK3CA mutation • APC mutation • RNF43 mutation
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gemcitabine • 5-fluorouracil • albumin-bound paclitaxel • irinotecan • leucovorin calcium
5ms
High-resolution transcriptional signature to predict survival benefit in colorectal cancer (CRC) treated with EGFR inhibitors (EGFRi) independent of RAS/BRAF mutation status or tumor sidedness. (ASCO-GI 2024)
Sponsored by NCI, NCI Background: Cetuximab (CTX) and Panitumumab (PMB) therapies directed at EGFR have been restricted to left-sided CRC harboring wild-type KRAS (KRASWT), limiting their utility. Our data suggest that CTX-S may predict longer survival on EGFRi, surprisingly independent of RAS/BRAF mutation status as well as tumor sidedness. Patients with high CTX-S had increased prevalence of CMS2 and harbored more APC and TP53 mutations. A strong EGFRi biomarker would likely expand the utility of EGFRi to right-sided tumors and possibly to RASMUT tumors.
EGFR (Epidermal growth factor receptor) • KRAS (KRAS proto-oncogene GTPase) • BRAF (B-raf proto-oncogene) • TP53 (Tumor protein P53) • NRAS (Neuroblastoma RAS viral oncogene homolog) • RNF43 (Ring Finger Protein 43) • SMAD4 (SMAD family member 4) • APC (APC Regulator Of WNT Signaling Pathway) • RAS (Rat Sarcoma Virus)
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TP53 mutation • KRAS mutation • EGFR mutation • BRAF mutation • NRAS mutation • KRAS wild-type • BRAF wild-type • RAS mutation • RAS wild-type • APC mutation • RAS wild-type + BRAF wild-type • RNF43 mutation
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MI Tumor Seek™
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Erbitux (cetuximab) • Vectibix (panitumumab)
5ms
High overall copy number variation burden by genome-wide methylation profiling holds negative prognostic value in surgically treated pancreatic ductal adenocarcinoma. (PubMed, Hum Pathol)
Importantly, our approach, using data from genome-wide methylation profiling for analysis of overall CNV burden, can be performed on formalin-fixed and paraffin embedded PDAC tissues. Future studies should examine the prognostic value of overall CNV burden in unresectable PDAC.
Journal
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KRAS (KRAS proto-oncogene GTPase) • TP53 (Tumor protein P53) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • ARID1A (AT-rich interaction domain 1A) • RNF43 (Ring Finger Protein 43) • SMAD4 (SMAD family member 4) • KDM6A (Lysine Demethylase 6A) • GNAS (GNAS Complex Locus)
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TP53 mutation • KRAS mutation • RNF43 mutation
5ms
DNA Mutational Profiling in Patients With Colorectal Cancer Treated With Standard of Care Reveals Differences in Outcome and Racial Distribution of Mutations. (PubMed, J Clin Oncol)
These results can provide new tools to predict patient outcome and improve therapeutic decisions and trial participation in patient minorities. The molecular alterations identified in this study may direct biomarker-driven studies.
Journal • MSi-H Biomarker
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KRAS (KRAS proto-oncogene GTPase) • BRAF (B-raf proto-oncogene) • MSI (Microsatellite instability) • LRP1B (LDL Receptor Related Protein 1B) • RNF43 (Ring Finger Protein 43)
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BRAF V600E • KRAS mutation • MSI-H/dMMR • BRAF wild-type • RAS mutation • APC mutation • RNF43 mutation
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Avastin (bevacizumab) • Erbitux (cetuximab)
5ms
Enhancing cholangiocarcinoma immunotherapy with adoptive T cells targeting HLA-restricted neoantigen peptides derived from driver gene mutations. (PubMed, Biomed Pharmacother)
Moreover, HLA-A* 11:01-restricted T cells exhibited elevated levels of IFN-gamma, granulysin, and granzyme B, indicating their potent anti-tumor capabilities. These findings underscore the specificity and efficiency of HLA-A* 11:01-restricted T cells targeting KRAS, RNF43, TP53 mutated CCA cells, and offer valuable insights for developing immunotherapeutic strategies and therapeutic peptide-vaccines for CCA treatment.
Journal • IO biomarker
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KRAS (KRAS proto-oncogene GTPase) • TP53 (Tumor protein P53) • HLA-A (Major Histocompatibility Complex, Class I, A) • IFNG (Interferon, gamma) • RNF43 (Ring Finger Protein 43) • GZMB (Granzyme B) • CD40 (CD40 Molecule) • ITGAX (Integrin Subunit Alpha X) • CD80 (CD80 Molecule) • CD86 (CD86 Molecule)
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TP53 mutation • KRAS mutation • RNF43 mutation • HLA-A*11
5ms
Multiomic Characterization Reveals a Distinct Molecular Landscape in Young-Onset Pancreatic Cancer. (PubMed, JCO Precis Oncol)
In this large, real-world multiomic characterization of age-stratified molecular differences in pancreatic ductal adenocarcinoma, YOPC is associated with a distinct molecular landscape that has prognostic and therapeutic implications.
Journal • BRCA Biomarker • MSi-H Biomarker
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KRAS (KRAS proto-oncogene GTPase) • BRAF (B-raf proto-oncogene) • TP53 (Tumor protein P53) • BRCA2 (Breast cancer 2, early onset) • MSI (Microsatellite instability) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • NRG1 (Neuregulin 1) • CD8 (cluster of differentiation 8) • SF3B1 (Splicing Factor 3b Subunit 1) • PALB2 (Partner and localizer of BRCA2) • RNF43 (Ring Finger Protein 43) • SMAD4 (SMAD family member 4) • HLA-DPA1 (Major Histocompatibility Complex, Class II, DP Alpha 1)
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TP53 mutation • BRCA2 mutation • MSI-H/dMMR • PALB2 mutation • KRAS wild-type • RAS wild-type • CDKN2A mutation • MET mutation • NRG1 fusion • BRAF fusion • RNF43 mutation • MET fusion
6ms
Predictive Impact of RNF43 Mutations in Patients With Proficient Mismatch Repair/Microsatellite Stable BRAFV600E-Mutated Metastatic Colorectal Cancer Treated With Target Therapy or Chemotherapy. (PubMed, JCO Precis Oncol)
Patients with pMMR/MSS BRAFV600E-mut mCRC achieve benefit from TT versus CT independently of RNF43 mutational status, although a higher magnitude of benefit from TT is observed in RNF43-mut tumors. These findings deserve confirmation in concluded and ongoing randomized trials.
Journal • Mismatch repair • Metastases
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RNF43 (Ring Finger Protein 43)
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BRAF V600E • BRAF V600 • RNF43 mutation
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Erbitux (cetuximab) • Braftovi (encorafenib) • oxaliplatin • irinotecan
6ms
Pan-cancer analysis identifies RNF43 as a prognostic, therapeutic and immunological biomarker. (PubMed, Eur J Med Res)
Our results first present the expression pattern and the mutation signature of RNF43, highlighting that RNF43 is an important prognostic biomarker in pan-cancer. Furthermore, RNF43 seems to be a critical modulator in the tumor immune microenvironment and can function as a promising biomarker for predicting the immunotherapeutic efficacy of anti-PD-1/PD-L1 treatment, and drug sensitivity in cancer treatment.
Journal • Tumor mutational burden • PD(L)-1 Biomarker • IO biomarker • Pan tumor
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TMB (Tumor Mutational Burden) • MSI (Microsatellite instability) • CD8 (cluster of differentiation 8) • RNF43 (Ring Finger Protein 43)
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RNF43 mutation • RNF43 expression
6ms
Comprehensive assessment of mismatch repair and microsatellite instability status in molecular classification of endometrial carcinoma (PubMed, Zhonghua Fu Chan Ke Za Zhi)
The concordance of MMR-IHC and MSI-NGS in EC is relatively high.The discordance in a few MMR-d EC are mostly found in cases with MLH1 and (or) PMS2 protein loss or MMR protein subclonal staining caused by MLH1 gene promoter hypermethylation. In order to provide accurate molecular typing for EC patients, MLH1 gene methylation, MSI-PCR, MMR gene germline mutation and TMB should be combined to comprehensively evaluate MMR and MSI status.
Journal • Mismatch repair • Tumor mutational burden • Microsatellite instability • BRCA Biomarker • MSi-H Biomarker
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KRAS (KRAS proto-oncogene GTPase) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • TMB (Tumor Mutational Burden) • BRCA2 (Breast cancer 2, early onset) • MSI (Microsatellite instability) • PTEN (Phosphatase and tensin homolog) • ARID1A (AT-rich interaction domain 1A) • POLE (DNA Polymerase Epsilon) • MLH1 (MutL homolog 1) • LRP1B (LDL Receptor Related Protein 1B) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • RNF43 (Ring Finger Protein 43) • PMS2 (PMS1 protein homolog 2) • CREBBP (CREB binding protein) • KMT2B (Lysine Methyltransferase 2B)
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TP53 mutation • TMB-H • MSI-H/dMMR • PIK3CA mutation • PTEN mutation • ARID1A mutation • RNF43 mutation • PMS2 mutation
7ms
Comprehensive assessment of lymphocyte counts in colorectal cancer: Defining the optimal prognostic marker (SITC 2023)
We achieved increasingly precise and biologically relevant biomarkers by using data-driven CD3/CD8 density cutoffs and ratios, while controlling for important clinicopathologic and molecular variables in CRC. Independent validation and inclusion of other immune or stromal cell types will bring these findings closer to clinical utility in CRC.
IO biomarker
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BRAF (B-raf proto-oncogene) • CD8 (cluster of differentiation 8) • RNF43 (Ring Finger Protein 43) • SMAD4 (SMAD family member 4) • GNAS (GNAS Complex Locus)
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BRAF mutation • RNF43 mutation • SMAD4 mutation • GNAS mutation
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Immunoscore®
7ms
Primary cutaneous adnexal carcinoma with squamoid and microcystic glandular features distinct from microcystic adnexal carcinoma: report of a unique case with gene sequencing (ASDP 2023)
Awareness of the spectrum of findings in this category of neoplasms is key for proper diagnosis. Poster type: Poster Defense
Clinical
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KRAS (KRAS proto-oncogene GTPase) • BRAF (B-raf proto-oncogene) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • ARID1A (AT-rich interaction domain 1A) • MTAP (Methylthioadenosine Phosphorylase) • RNF43 (Ring Finger Protein 43) • CDKN2B (Cyclin Dependent Kinase Inhibitor 2B) • KDM6A (Lysine Demethylase 6A) • AMER1 (APC Membrane Recruitment Protein 1)
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KRAS mutation • BRAF mutation • ARID1A mutation • RNF43 mutation
7ms
KEYNOTE-E86: A Study to Assess RXC004 Efficacy in Advanced Solid Tumours After Progression on Standard of Care (SoC) Therapy (PORCUPINE2) (clinicaltrials.gov)
P2, N=45, Active, not recruiting, Redx Pharma Plc | Recruiting --> Active, not recruiting | N=80 --> 45 | Trial primary completion date: Jun 2023 --> Nov 2023
Enrollment closed • Enrollment change • Trial primary completion date • Metastases
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RNF43 (Ring Finger Protein 43)
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RNF43 mutation
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Keytruda (pembrolizumab) • Prolia (denosumab) • zamaporvint (RXC004)
8ms
Molecular analysis with pancreaseq® in evaluation and management of pancreatic cysts: A cohort of 28 patients. (PubMed, Cytojournal)
It was interpreted as serous cystadenoma and the risk for progression was low. Molecular analysis of pancreatic cysts with PancreaSeq® is useful in accurate diagnosis, especially when cytologic material is non-diagnostic and helps improve patient management.
Journal
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KRAS (KRAS proto-oncogene GTPase) • ALK (Anaplastic lymphoma kinase) • TP53 (Tumor protein P53) • RNF43 (Ring Finger Protein 43) • VHL (von Hippel-Lindau tumor suppressor) • GNAS (GNAS Complex Locus)
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TP53 mutation • KRAS mutation • ALK positive • ALK fusion • VHL mutation • RNF43 mutation • TP53 mutation + KRAS mutation • GNAS mutation • KRAS mutation + TP53 mutation
8ms
New trial
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EGFR (Epidermal growth factor receptor) • KRAS (KRAS proto-oncogene GTPase) • BRAF (B-raf proto-oncogene) • TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • NRAS (Neuroblastoma RAS viral oncogene homolog) • FGFR2 (Fibroblast growth factor receptor 2) • PTEN (Phosphatase and tensin homolog) • HRAS (Harvey rat sarcoma viral oncogene homolog) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • AKT1 (V-akt murine thymoma viral oncogene homolog 1) • TOP2A (DNA topoisomerase 2-alpha) • IL6 (Interleukin 6) • RNF43 (Ring Finger Protein 43) • CTNNB1 (Catenin (cadherin-associated protein), beta 1) • FBXW7 (F-Box And WD Repeat Domain Containing 7) • MUC16 (Mucin 16, Cell Surface Associated) • GNAS (GNAS Complex Locus) • PPP2R1A (Protein Phosphatase 2 Scaffold Subunit Aalpha)
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KRAS mutation • BRAF mutation • FGFR2 mutation • RNF43 mutation • AKT1 mutation
9ms
Genomic landscape and its prognostic significance in stage III colorectal cancer: JCOG1506A1, an ancillary of JCOG0910. (PubMed, Cancer Sci)
In conclusion, the overall spectrum of mutations in our Japanese stage III colorectal cancer cohort was similar to that in Western populations, but the frequencies of mutation for TP53, SOX9, and FBXW7 were higher, and the proportion of hypermutated tumors was lower. Multiple gene mutations appeared to impact relapse-free survival, suggesting that tumor genomic profiling can support precision medicine for colorectal cancer.
Journal
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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) • POLE (DNA Polymerase Epsilon) • RNF43 (Ring Finger Protein 43) • FBXW7 (F-Box And WD Repeat Domain Containing 7) • NOTCH3 (Notch Receptor 3) • SOX9 (SRY-Box Transcription Factor 9) • COL6A3 (Collagen Type VI Alpha 3 Chain)
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TP53 mutation • KRAS mutation • PIK3CA mutation • POLE mutation • RNF43 mutation
9ms
Neoantigen heterogeneity among subtypes in colorectal cancer (ESMO 2023)
Conclusions Our study constitutes the largest neoantigen dataset from integrated genome and transcriptome of CRC to date and illustrates the heterogeneity of the neoantigen landscape among CRC subtypes. The identified neoantigens may contribute to future individualized CRC immunotherapies.
IO biomarker
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HER-2 (Human epidermal growth factor receptor 2) • KRAS (KRAS proto-oncogene GTPase) • RNF43 (Ring Finger Protein 43) • MSH3 (MutS Homolog 3) • PODXL (Podocalyxin) • CRAT (Carnitine O-Acetyltransferase)
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KRAS mutation • HER-2 mutation • KRAS G12D • KRAS G12V • KRAS G12 • RNF43 mutation
9ms
Copy Number Variants and Late Somatic Mutations Underlying Tumor Progression in NADIM Clinical Trials (IASLC-WCLC 2023)
In this study, we report preliminary results of potential molecular mechanisms underlying disease progression in patients treated with neoadjuvant nivolumab plus chemotherapy using plasma samples from NADIM and NADIM II cohorts. A total of 10 plasma samples collected upon disease progression from patients included in NADIM or NADIM II trials were analyzed... Acquisition of somatic-copy number alterations in RET, EGFR and FGFR was found in the plasma samples collected upon disease progression in patients treated with neoadjuvant chemoimmunotherapy (NADIM I and II cohorts) which may have important implications for subsequent treatment selection.
Clinical • Tumor mutational burden • PD(L)-1 Biomarker • IO biomarker
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EGFR (Epidermal growth factor receptor) • TP53 (Tumor protein P53) • TMB (Tumor Mutational Burden) • RET (Ret Proto-Oncogene) • FGFR3 (Fibroblast growth factor receptor 3) • STK11 (Serine/threonine kinase 11) • DNMT3A (DNA methyltransferase 1) • TET2 (Tet Methylcytosine Dioxygenase 2) • RNF43 (Ring Finger Protein 43) • SETBP1 (SET Binding Protein 1) • GRIN2A (Glutamate Ionotropic Receptor NMDA Type Subunit 2A)
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TP53 mutation • EGFR amplification • STK11 mutation • DNMT3A mutation • TET2 mutation • CBL mutation • RNF43 mutation • FGFR3 amplification • RET amplification
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TruSight Oncology 500 Assay • Oncomine Tumor Mutation Load Assay
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Opdivo (nivolumab)
9ms
Treatment of BRAF-V600E mutant metastatic colorectal cancer: new insights and biomarkers. (PubMed, Expert Rev Anticancer Ther)
The phase III BEACON trial made significant progress in the development of BRAF inhibitors by establishing encorafenib-cetuximab as the new standard of care for patients with mCRC who have progressed to one or two previous lines of treatment...There is a crucial need to better understand tumor biology and develop accurate and reliable biomarkers to enhance the antitumor activity of encorafenib-based combinations. The RNF43 mutation is an accurate and reliable predictive biomarker of response, and combinations that target crosstalk between the MAPK pathway, the immune system, and WNT pathways seem promising.
Review • Journal • PD(L)-1 Biomarker • IO biomarker • Metastases
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BRAF (B-raf proto-oncogene) • RNF43 (Ring Finger Protein 43)
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BRAF V600E • BRAF V600 • RNF43 mutation
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Erbitux (cetuximab) • Mektovi (binimetinib) • Braftovi (encorafenib)
10ms
A Study of E7386 in Participants With Advanced Solid Tumor Including Colorectal Cancer (CRC) (clinicaltrials.gov)
P1, N=70, Recruiting, Eisai Co., Ltd. | Active, not recruiting --> Recruiting | N=50 --> 70 | Trial completion date: Mar 2024 --> Mar 2025 | Trial primary completion date: Mar 2024 --> Mar 2025
Enrollment open • Enrollment change • Trial completion date • Trial primary completion date • Metastases
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RNF43 (Ring Finger Protein 43) • APC (APC Regulator Of WNT Signaling Pathway) • AXIN1 (Axin 1) • ZNRF3 (Zinc And Ring Finger 3)
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APC mutation • CTNNB1 mutation • RNF43 mutation
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E7386
10ms
RNF43 is associated with genomic features and clinical outcome in BRAF mutant colorectal cancer. (PubMed, Front Oncol)
Survival analysis showed that RNF43 mutation was a predictive biomarker for better PFS and OS in BRAF mutant CRC. Collectively, we identified that RNF43 mutations were correlated with favorable genomic features, resulting in a better clinical outcome for BRAF mutant CRC patients.
Clinical data • Journal • Tumor mutational burden
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BRAF (B-raf proto-oncogene) • TMB (Tumor Mutational Burden) • MSI (Microsatellite instability) • RNF43 (Ring Finger Protein 43)
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BRAF V600E • BRAF mutation • BRAF V600 • RNF43 mutation