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BIOMARKER:

TTN mutation

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Other names: TTN, Titin, Rhabdomyosarcoma Antigen MU-RMS-40.14, Connectin, Cardiomyopathy Dilated 1G (Autosomal Dominant), LGMDR10, LGMD2J, CMPD4, EOMFC, HMERF, MYLK5, SALMY, CMD1G, CMH9, TMD
Entrez ID:
Related biomarkers:
12ms
Distinct genomic, transcriptomic, and immune profiles for tumor and non-tumor mucosal regions in early gastric cancer. (PubMed, Pathol Res Pract)
The non-tumor mucosa closer to the tumor (1 cm) exhibited similar genomic and transcriptomic features. These findings can offer clinical guidance for acquiring a safe horizontal margin in endoscopic resection for early gastric cancer.
Journal • PD(L)-1 Biomarker
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PD-L1 (Programmed death ligand 1) • TP53 (Tumor protein P53)
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PD-L1 expression • TP53 mutation • TTN mutation
12ms
Prognostic significance of B cell senescence-associated genes as risk markers in prostate adenocarcinoma. (PubMed, Transl Cancer Res)
Drug sensitivity analysis showed that the high-risk group had higher resistance to Camptothecin, Cisplatin and WIKI4 drugs...This study constructed and verified a B cell senescence-related gene model that can predict prognosis of PRAD. More importantly, it provides a reference standard for guiding the prognosis of PRAD patients.
Journal • Tumor mutational burden
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TP53 (Tumor protein P53) • TMB (Tumor Mutational Burden) • TTN (Titin) • BMP2 (Bone Morphogenetic Protein 2)
|
TP53 mutation • TTN mutation
|
cisplatin
1year
Gender and melanoma subtype-based prognostic implications of MUC16 and TTN co-occurrent mutations in melanoma: A retrospective multi-study analysis. (PubMed, Cancer Med)
TTN mutations are a potential marker of poor prognosis in melanoma, which is amplified in the presence of concurrent MUC16 mutations. ALM patients with neither gene mutations had worse prognosis, suggesting a protective effect of having both MUC16 and TTN mutations. Only MUC16 mutations conferred a worse prognosis for MUP patients. Comprehensive genetic profiling in melanoma patients may facilitate personalized treatment strategies to optimize patient outcomes.
Retrospective data • Journal
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MUC16 (Mucin 16, Cell Surface Associated) • TTN (Titin)
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MUC16 mutation • TTN mutation
over1year
TTN Mutation in Endometrial Endometrioid Carcinoma Is Associated with Poor Clinical Outcomes and High Tumor Mutation Burden. (PubMed, Cancer Invest)
In conclusion, TTN mutation may serve as a biomarker for EEC prognosis. TTN mutation is also associated with WES-TMB, and could be a simplified TMB measurement technique.
Clinical data • Journal • Tumor mutational burden • IO biomarker
|
TMB (Tumor Mutational Burden)
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TMB-H • TTN mutation
over1year
MOICS, a novel classier deciphering immune heterogeneity and aid precise management of clear cell renal cell carcinoma at multiomics level. (PubMed, Cancer Biol Ther)
Additionally, significant differences were observed in the genomic landscapes between the subtypes: MOICS1 exhibited mutations in TTN, BAP1, SETD2, MTOR, MUC16, CSMD3, and AKAP9, while MOICS2 was characterized by notable alterations in the TGF-β pathway. Overall, our work demonstrates that multi-immune omics remodeling analysis enhances the understanding of the immune heterogeneity in ccRCC and supports precise patient management.
Journal
|
CD8 (cluster of differentiation 8) • mTOR (Mechanistic target of rapamycin kinase) • BAP1 (BRCA1 Associated Protein 1) • MUC16 (Mucin 16, Cell Surface Associated) • SETD2 (SET Domain Containing 2, Histone Lysine Methyltransferase) • CD4 (CD4 Molecule) • TGFB1 (Transforming Growth Factor Beta 1) • CSMD3 (CUB And Sushi Multiple Domains 3)
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BAP1 mutation • MTOR mutation • TTN mutation • SETD2 mutation
almost2years
Clear-cell papillary renal cell tumour: New insights into clinicopathological features and molecular landscape after renaming by 5th WHO classification. (PubMed, Pathol Res Pract)
CCPRCT is a renal epithelial cell tumor characterized by specific clinical and pathological features. Our study provides additional evidence supporting the favorable prognosis of CCPRCT. Furthermore, the potential molecular alterations were uncovered by this study in CCPRCT such as the FLT family and TTN. However, due to the limited sample size, larger studies are required to validate these findings.
Journal • Tumor mutational burden
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TMB (Tumor Mutational Burden) • CA9 (Carbonic anhydrase 9) • PTPRZ1 (Protein Tyrosine Phosphatase Receptor Type Z1)
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TMB-L • TTN mutation
almost2years
Recombinant Human Adenovirus Type 5 (H101) Intra-Tumor Therapy in Patients with Persistent, Recurrent, or Metastatic Cervical Cancer: Genomic Profiling Relating to Clinical Efficacy. (PubMed, Drug Des Devel Ther)
We conducted an unprecedented work via a WES-based approach and provided preliminary insights into H101 treatment-induced genetic aberrations in which some genes (TTN, KMT2D, ALDOA, DNAH7, ADAP1, PTPN23, and THEMIS2) could be considered potential therapeutic targets of H101-containing treatment in cervical carcinoma. Moreover, the therapy-associated characteristics such as clonal evolution and a mutational signature may warrant further evaluation of H101 in clinical settings for treating cervical carcinoma.
Journal • Tumor mutational burden • MSi-H Biomarker • Metastases
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TMB (Tumor Mutational Burden) • MSI (Microsatellite instability) • KMT2D (Lysine Methyltransferase 2D) • ALDOA (Aldolase Fructose-Bisphosphate A) • THEMIS2 (Thymocyte Selection Associated Family Member 2)
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KMT2D mutation • TTN mutation • PTPN2 mutation
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Oncorine (recombinant human adenovirus type 5)
2years
Genomic and immune landscape in hepatocellular carcinoma: Implications for personalized therapeutics. (PubMed, Environ Toxicol)
Further, ATP6V1G1 was recognized in its role in apoptosis and migration in HCC cells. In conclusion, our findings illuminate the complexities of HCC progression, potential predictive genetic markers for drug response, and the pivotal role of ATP6V1G1, suggesting avenues for targeted therapeutic strategies in HCC.
Journal
|
TP53 (Tumor protein P53) • CTNNB1 (Catenin (cadherin-associated protein), beta 1) • TTN (Titin)
|
TP53 mutation • TTN mutation • TP53 mutation + TTN mutation
over2years
PAPILLARY THYROID CANCER IN A PATIENT WITH GERMLINE TTN MUTATION (CHEST 2023)
His atrial fibrillation was treated with methimazole, which he was able to stop after nine months. This case is unique in that a patient with a TTN mutation developed atrial fibrillation and papillary thyroid cancer. Amiodarone may have caused AIT and the patient was also found to have papillary thyroid microcarcinoma. TTN is one of the top five mutated genes in thyroid cancer, together with BRAF, NRAS, HRAS, and thyroglobulin, however, further work is needed to investigate the causal effect of gene mutations on development of thyroid malignancies.
Clinical
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BRAF (B-raf proto-oncogene) • NRAS (Neuroblastoma RAS viral oncogene homolog) • HRAS (Harvey rat sarcoma viral oncogene homolog) • TTN (Titin)
|
BRAF mutation • TTN mutation
over2years
Spatial whole exome sequencing reveals the genetic features of highly-aggressive components in lung adenocarcinoma (ESMO 2023)
Functional analysis demonstrated that TTN mutations were enriched the complement and coagulation cascades, which correlated with the pathway of cell adhesion, migration, and proliferation. Conclusions Collectively, the histologic subtypes of invasive LUAD were genetically different, and certain trunk genotypes might synergize with branching TTN mutation to develop highly aggressive components.
Whole exome sequencing
|
ALK (Anaplastic lymphoma kinase) • TP53 (Tumor protein P53) • TTN (Titin)
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TP53 mutation • ALK fusion • ALK mutation • TTN mutation • ALK fusion + TP53 mutation
over2years
Identification of novel stemness-based subtypes and construction of a prognostic risk model for patients with lung squamous cell carcinoma. (PubMed, Curr Stem Cell Res Ther)
The stemness-based subtypes shed novel insights into the potential roles of LUSC-stemness in tumor heterogeneity, and our prognostic signatures offer a promising tool for prognosis prediction and guide therapeutic decisions in LUSC.
Journal • IO biomarker
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TP53 (Tumor protein P53) • TTN (Titin) • BMI1 (BMI1 proto-oncogene, polycomb ring finger) • EIF1AX (Eukaryotic Translation Initiation Factor 1A X-Linked) • FAM43A (Family With Sequence Similarity 43 Member A)
|
TP53 mutation • TTN mutation
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dasatinib • paclitaxel • imatinib • sunitinib • saracatinib (AZD0530)
over2years
Joint analysis of WES and RNA-Seq identify signature genes related to metastasis in prostate cancer. (PubMed, J Cell Mol Med)
Our study provides new molecular perspectives on PCa metastasis. The signature genes and pathways could be served as potential therapeutic targets for metastasis or cancer progression.
Journal • BRCA Biomarker
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BRCA2 (Breast cancer 2, early onset) • TTN (Titin) • CD34 (CD34 molecule) • FOXA1 (Forkhead Box A1) • AGR3 (Anterior Gradient 3, Protein Disulphide Isomerase Family Member) • SOX4 (SRY-Box Transcription Factor 4) • NCOA1 (Nuclear Receptor Coactivator 1) • SOX14 (SRY-Box Transcription Factor 14) • UBL4A (Ubiquitin Like 4A)
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TTN mutation