News - TTN mutation - LARVOL VERI

3ms

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.

3 months ago

Retrospective data • Journal

MUC16 (Mucin 16, Cell Surface Associated) • TTN (Titin)

MUC16 mutation • TTN mutation

7ms

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.

7 months ago

Clinical data • Journal • Tumor mutational burden • IO biomarker

TMB (Tumor Mutational Burden)

TMB-H • TTN mutation

7ms

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.

7 months ago

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)

BAP1 mutation • MTOR mutation • TTN mutation • SETD2 mutation

10ms

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.

10 months ago

Journal • Tumor mutational burden

TMB (Tumor Mutational Burden) • CA9 (Carbonic anhydrase 9) • PTPRZ1 (Protein Tyrosine Phosphatase Receptor Type Z1)

TMB-L • TTN mutation

12ms

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.

12 months ago

Journal • Tumor mutational burden • MSi-H Biomarker • Metastases

TMB (Tumor Mutational Burden) • MSI (Microsatellite instability) • KMT2D (Lysine Methyltransferase 2D) • ALDOA (Aldolase Fructose-Bisphosphate A) • THEMIS2 (Thymocyte Selection Associated Family Member 2)

KMT2D mutation • TTN mutation • PTPN2 mutation

Oncorine (recombinant human adenovirus type 5)

12ms

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.

12 months ago

Journal

TP53 (Tumor protein P53) • CTNNB1 (Catenin (cadherin-associated protein), beta 1) • TTN (Titin)

TP53 mutation • TTN mutation • TP53 mutation + TTN mutation

over1year

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.

over 1 year ago

Clinical

BRAF (B-raf proto-oncogene) • NRAS (Neuroblastoma RAS viral oncogene homolog) • HRAS (Harvey rat sarcoma viral oncogene homolog) • TTN (Titin)

BRAF mutation • TTN mutation

over1year

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.

over 1 year ago

Whole exome sequencing

ALK (Anaplastic lymphoma kinase) • TP53 (Tumor protein P53) • TTN (Titin)

TP53 mutation • ALK fusion • ALK mutation • TTN mutation • ALK fusion + TP53 mutation

over1year

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.

over 1 year ago

Journal • IO biomarker

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

dasatinib • paclitaxel • imatinib • sunitinib • saracatinib (AZD0530)

over1year

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.

over 1 year ago

Journal • BRCA Biomarker

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)

TTN mutation

over1year

Social, Genetics and Histopathological Factors Related to Titin (TTN) Gene Mutation and Survival in Women with Ovarian Serous Cystadenocarcinoma: Bioinformatics Analysis. (PubMed, Genes (Basel))

The number of mutations (p < 0.0001) and winter hypoxia score (p = 0.008) were positively associated with TTN mutations, and nonsynonymous TMB (p < 0.0001) proved to be a predictor. Mutated TTN affects the score of genetic variables involved in cancer cell metabolism in ovarian cystadenocarcinoma.

over 1 year ago

Journal • Tumor mutational burden

TMB (Tumor Mutational Burden) • MSI (Microsatellite instability) • TTN (Titin)

TTN mutation

over1year

Heterogeneous pattern of gene expression driven by TTN mutation is involved in the construction of a prognosis model of lung squamous cell carcinoma. (PubMed, Front Oncol)

The independent prognostic factor H2BC9 for TTN mutation-driven gene heterogeneity expression was screened through multi-factor COX regression analysis. Our data showed that the gene heterogeneity expression, which was driven by TTN mutations, prolonged the survival of lung adenocarcinoma patients and provided valuable clues for the prognosis of TTN gene mutations in lung adenocarcinoma.

over 1 year ago

Journal

TTN (Titin)

TTN mutation

over1year

Prognostic prediction and multidimensional dissections of a macrophages M0-related gene signature in liver cancer. (PubMed, Front Endocrinol (Lausanne))

What's more important, single-cell analysis verified the expression of MRGs in the tumor microenvironment of LIHC. Multidimensional evaluations verified the clinical utility of the macrophages M0-related gene signature to predict prognosis, assist risk decision and guide treatment strategy for patients with LIHC.

over 1 year ago

Journal • Gene Signature

TP53 (Tumor protein P53)

TP53 mutation • TTN mutation

over1year

Construction of a TTN Mutation-Based Prognostic Model for Evaluating Immune Microenvironment, Cancer Stemness, and Outcomes of Colorectal Cancer Patients. (PubMed, Stem Cells Int)

TTN-mutant and TTN-wild-type CRC demonstrated different microenvironment features and prognosis. Our model provides a robust immune-related gene prognostic tool and a series of gene signatures for evaluating the immune features, cancer stemness, and prognosis of CRC.

over 1 year ago

Journal • IO biomarker

TTN (Titin)

TTN mutation

over1year

Apatinib combined with camrelizumab in advanced acral melanoma patients: An open-label, single-arm phase 2 trial. (PubMed, Eur J Cancer)

Apatinib combined with camrelizumab showed manageable safety profile and reasonable anti-tumour activity in advanced acral melanoma patients as first-line therapy.

over 1 year ago

P2 data • Clinical Trial,Phase II • Journal • PD(L)-1 Biomarker • Metastases

MUC16 (Mucin 16, Cell Surface Associated) • ALPK2 (Alpha Kinase 2) • SCUBE1 (Signal Peptide, CUB Domain And EGF Like Domain Containing 1) • VPS13D (Vacuolar Protein Sorting 13 Homolog D)

MUC16 mutation • TTN mutation

AiRuiKa (camrelizumab) • AiTan (rivoceranib)

almost2years

Identification and validation of a TTN-associated immune prognostic model for skin cutaneous melanoma. (PubMed, Front Genet)

Additionally, the response to chemotherapeutic agents was higher in the low-risk group than in the high-risk group, which may be related to the long survival in the low-risk group. Collectively, we constructed and validated a TM-IPM using four immune-related genes and analyzed the potential mechanisms of TM-IPM to predict patient prognosis and response to immunotherapy from an immunological perspective.

almost 2 years ago

Journal • Tumor mutational burden • IO biomarker

PD-L1 (Programmed death ligand 1) • TMB (Tumor Mutational Burden) • CD8 (cluster of differentiation 8) • TTN (Titin) • CXCL9 (Chemokine (C-X-C motif) ligand 9) • FCGR2A (Fc fragment of IgG receptor IIa)

TMB-H • TTN mutation

almost2years

Analyzing TCGA Data to Identify Gene Mutations Linked to Hepatocellular Carcinoma in Asians. (PubMed, Gastrointest Tumors)

We also found that the TP53 mutation predicts worse outcomes within the non-Asian cohort but not within the Asian cohort. Our findings can improve cancer care in the Asian population through better disease prognostication, evaluations for potential targeted therapy, and a deeper understanding of liver cancer pathogenesis.

almost 2 years ago

Journal

TP53 (Tumor protein P53) • TTN (Titin) • MUC5B (Mucin 5B, Oligomeric Mucus/Gel-Forming) • CSMD1 (CUB And Sushi Multiple Domains 1)

TP53 mutation • TTN mutation

almost2years

A pyroptosis expression pattern score predicts prognosis and immune microenvironment of lung squamous cell carcinoma. (PubMed, Front Genet)

Compared with the high-PEPScore subgroup, the low-PEPScore subgroup had significantly better OS, higher TP53 and TTN mutation rate, higher infiltration of T follicular helper cells and CD8 T cells, and may benefit more from chemotherapeutic drugs, immunotherapy and radiotherapy. PEPScore is a prospective prognostic model to differentiate prognosis, molecular and immune microenvironmental features, as well as provide significant guidance for selecting clinical therapies.

almost 2 years ago

Journal • IO biomarker

TP53 (Tumor protein P53) • CD8 (cluster of differentiation 8) • TTN (Titin) • CSF2 (Colony stimulating factor 2) • TSLP (Thymic Stromal Lymphopoietin) • AKAP12 (A-Kinase Anchoring Protein 12)

TP53 mutation • TTN mutation

over2years

Driver Gene Alterations in Malignant Progression of Gastric Cancer. (PubMed, Front Oncol)

Further research identified six GC-related driver genes associated with the levels of immune infiltration of different immune cells and the majority of immune markers. Our mutation-based study of driver oncogenes identified potential drug targets in GC.

over 2 years ago

Journal

TP53 (Tumor protein P53) • LRP1B (LDL Receptor Related Protein 1B) • MUC16 (Mucin 16, Cell Surface Associated)

TP53 mutation • LRP1B mutation • TTN mutation

over2years

TTN Mutations Predict a Poor Prognosis in Patients with Thyroid Cancer. (PubMed, Biosci Rep)

Nomograms also confirmed the prognostic values of the TTN gene in THCA.Conclusions In summary, our results demonstrated that TTN gene mutations predict poor prognosis in patients with THCA. This is the first study to research TTN gene mutations in THCA and to investigate their prognostic value in THCA.

over 2 years ago

Journal

TTN (Titin)

TTN mutation

over2years

Gene Mutations Related to Glucocorticoid Resistance in Pediatric Acute Lymphoblastic Leukemia. (PubMed, Front Pediatr)

Upon statistical analysis, TTN and NOTCH1 mutations were found to be associated with prednisone resistance...Our study is the first to demonstrate the association between TTN mutation and glucocorticoid resistance in ALL. Our findings could guide strategies for overcoming drug resistance and aid in the development of drug targets.

over 2 years ago

Journal

TP53 (Tumor protein P53) • FLT3 (Fms-related tyrosine kinase 3) • NOTCH1 (Notch 1) • FBXW7 (F-Box And WD Repeat Domain Containing 7) • MUC16 (Mucin 16, Cell Surface Associated) • PHF6 (PHD Finger Protein 6)

TP53 mutation • NOTCH1 mutation • MUC16 mutation • PHF6 mutation • TTN mutation

prednisone

over2years

A Novel Immune-Prognosis Index Predicts the Benefit of Lung Adenocarcinoma Patients. (PubMed, Front Pharmacol)

In contrast, patients in the IPI-low subgroup were exhibited characters as p53 signaling pathways activation, higher TP53 and TTN mutation rate, more infiltrations of resting memory CD4 T cells, macrophages M2, immune-suppressive response and less benefit from ICB treatment. IPI is a potentially valuable prognostic evaluation method for LUAD, which works well in the benefit predicting of LUAD patients within ICB treatment.

over 2 years ago

Journal

CD8 (cluster of differentiation 8) • TTN (Titin) • CD4 (CD4 Molecule) • ADRB2 (Adrenoceptor Beta 2)

TP53 mutation • TTN mutation

over2years

Identification of Tumor Microenvironment and DNA Methylation-Related Prognostic Signature for Predicting Clinical Outcomes and Therapeutic Responses in Cervical Cancer. (PubMed, Front Mol Biosci)

Finally, four drugs (panobinostat, lenvatinib, everolimus, and temsirolimus) were found to have potential therapeutic implications for patients with a high-risk score. Our findings highlight that the TME and DNA methylation-related prognostic signature can accurately predict the prognosis of CC and may be important for stratified management of patients and precision targeted therapy.

over 2 years ago

Clinical data • Journal • Tumor Mutational Burden • IO biomarker • Epigenetic controller

TMB (Tumor Mutational Burden)

TTN mutation

everolimus • Lenvima (lenvatinib) • Torisel (temsirolimus) • Farydak (panobinostat)

almost3years

Genomic heterogeneity contributed to different prognosis between adult and pediatric acute lymphoblastic. (PubMed, J Leukoc Biol)

The overall survival and relapse-free survival of adult patients with ALL were poorer than those of pediatric patients with ALL (p = 0.002 and p < 0.001, respectively). This genomic landscape enhances the understanding of the biologic differences in ALL between the 2 populations and provides insight for developing therapeutic approaches.

almost 3 years ago

Journal

KRAS (KRAS proto-oncogene GTPase) • IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • ARID1A (AT-rich interaction domain 1A) • IKZF1 (IKAROS Family Zinc Finger 1) • CREBBP (CREB binding protein)

KRAS mutation • ARID1A mutation • CREBBP mutation • TTN mutation

almost3years

TTN/TP53 mutation might act as the predictor for chemotherapy response in lung adenocarcinoma and lung squamous carcinoma patients. (PubMed, Transl Cancer Res)

Additionally, TTN/TP53 double mutation-initiated high rate of chemotherapy response were largely concentrated within LUAD and LUSC patients whose anatomic neoplasm subdivision were located in the upper lung. Collectively, TTN/TP53 co-mutation is possibly served as an effective predictor for OS and chemotherapy response in lung cancer.

almost 3 years ago

Journal

TP53 (Tumor protein P53) • TTN (Titin)

TP53 mutation • TTN mutation

almost3years

Mutations in the TTN Gene are a Prognostic Factor for Patients with Lung Squamous Cell Carcinomas. (PubMed, Int J Gen Med)

TTN mutation is associated with TMB, and is positively correlated with prognosis of LUSC. Therefore, this mutation may serve as a potential prognostic indicator of LUSC.

almost 3 years ago

Clinical • Journal • Tumor Mutational Burden

TMB (Tumor Mutational Burden) • TTN (Titin)

TMB-H • TTN mutation

almost3years

Differences in genetics and microenvironment of lung adenocarcinoma patients with or without TP53 mutation. (PubMed, BMC Pulm Med)

Taking the mutant group as a reference, LUAD patients in the mutant group had significant differences in somatic mutations, mRNA-seq, miRNA-seq, immune infiltration, and immunomodulators, indicating that TP53 mutation plays a crucial role in the occurrence and development of LUAD.

almost 3 years ago

Clinical • Journal

TP53 (Tumor protein P53) • AFP (Alpha-fetoprotein) • TTN (Titin) • CD4 (CD4 Molecule) • PPARG (Peroxisome Proliferator Activated Receptor Gamma) • CSMD3 (CUB And Sushi Multiple Domains 3)

TP53 mutation • TTN mutation

3years

Genome Instability-Related miRNAs Predict Survival, Immune Landscape, and Immunotherapy Responses in Gastric Cancer. (PubMed, J Immunol Res)

In summary, we constructed a novel GIMiSig that could stratify GC patients into distinct risk groups that have different survival outcomes and immunotherapy efficacy. The results may provide new clues for improving GC outcomes.

3 years ago

Journal • IO biomarker

TTN (Titin) • UBQLN4 (Ubiquilin 4)

TTN mutation • UBQLN4 overexpression

3years

Titin Mutation Is Associated With Tumor Mutation Burden and Promotes Antitumor Immunity in Lung Squamous Cell Carcinoma. (PubMed, Front Cell Dev Biol)

Moreover, according to the CIBERSORT algorithm, we revealed that TTN mutation enhanced the antitumor immune response. In conclusion, TTN may have important clinical implications for relevant immune therapy of lung squamous carcinoma.

3 years ago

Journal • Tumor Mutational Burden

TP53 (Tumor protein P53) • TMB (Tumor Mutational Burden) • LRP1B (LDL Receptor Related Protein 1B) • MUC16 (Mucin 16, Cell Surface Associated) • TTN (Titin) • COL1A1 (Collagen Type I Alpha 1 Chain) • USH2A (Usherin) • CSMD3 (CUB And Sushi Multiple Domains 3) • SYNE1 (Spectrin Repeat Containing Nuclear Envelope Protein 1) • RYR3 (Ryanodine Receptor 3)

TP53 mutation • TMB-H • TTN mutation

3years

Molecular classification reveals the diverse genetic and prognostic features of gastric cancer: A multi-omics consensus ensemble clustering. (PubMed, Biomed Pharmacother)

The findings provided novel insights into the GC subtypes through integrative analysis of five -omics data by ten clustering algorithms. These could provide potential clinical therapeutic targets based on the specific molecular features.

3 years ago

Journal • Tumor Mutational Burden • IO biomarker

TMB (Tumor Mutational Burden) • ARID1A (AT-rich interaction domain 1A) • MUC16 (Mucin 16, Cell Surface Associated)

ARID1A mutation • MUC16 mutation • TTN mutation

cisplatin • paclitaxel • 5-fluorouracil

3years

Effect of TTN Mutations on Immune Microenvironment and Efficacy of Immunotherapy in Lung Adenocarcinoma Patients. (PubMed, Front Oncol)

TTN-MT is associated with significantly prolonged OS in LUAD patients. Additionally, TTN-MT is related to high immunogenicity and inflammatory TIME, suggesting that TTN-MT may be a potential predictive marker for patients with LUAD to accept ICIs.

3 years ago

Clinical • Journal • Tumor Mutational Burden • IO biomarker

TMB (Tumor Mutational Burden) • TTN (Titin)

TTN mutation

over3years

Molecular Pathways Associated with Kallikrein 6 Overexpression in Colorectal Cancer. (PubMed, Genes (Basel))

Expression of selected KLK6-associated genes was validated in a subset of paired normal and tumor CRC patient-derived organoid cultures. The performed analyses identified KLK6 itself and a set of genes, which are co-expressed with KLK6, as potential clinical biomarkers for the management of the CRC disease.

over 3 years ago

Journal

KRAS (KRAS proto-oncogene GTPase) • MUC16 (Mucin 16, Cell Surface Associated) • TTN (Titin) • TGFB1 (Transforming Growth Factor Beta 1)

KRAS mutation • TTN mutation

over3years

Cell-Free DNA Analysis by Whole-Exome Sequencing for Hepatocellular Carcinoma: A Pilot Study in Thailand. (PubMed, Cancers (Basel))

These findings indicate that the mutational profile of cfDNA accurately reflected that of HCC tissue and suggest that cfDNA could serve as a useful biomarker for diagnosis and prognosis in Thai HCC patients. In addition, we demonstrated the use of the pocket-sized sequencer of Oxford Nanopore Technology to detect copy-number variants in HCC tissues that could be applied for onsite clinical detection/monitoring of HCC.

over 3 years ago

Clinical • Journal

TP53 (Tumor protein P53)

TTN mutation

over3years

[VIRTUAL] GENOMIC HETEROGENEITY CONTRIBUTED TO THE DIFFERENT PROGNOSIS OF ADULT AND PEDIATRIC ACUTE LYMPHOBLASTIC LEUKEMIA (EHA 2021)

The overall survival(OS) and relapse free survival (RFS) of adult ALL were poorer than pediatric ALL(P=0.003, P<0.001, respectively). Conclusion This genomic landscape enhanced the understanding of the biological differences of ALL between the two populations and provided a clue for novel therapeutic approaches.

over 3 years ago

Clinical • BRCA Biomarker • IO biomarker

KRAS (KRAS proto-oncogene GTPase) • TP53 (Tumor protein P53) • FLT3 (Fms-related tyrosine kinase 3) • NRAS (Neuroblastoma RAS viral oncogene homolog) • BRCA1 (Breast cancer 1, early onset) • IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • DNMT3A (DNA methyltransferase 1) • ARID1A (AT-rich interaction domain 1A) • NOTCH1 (Notch 1) • NF1 (Neurofibromin 1) • ASXL1 (ASXL Transcriptional Regulator 1) • SMARCA4 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily A, member 4) • PTPN11 (Protein Tyrosine Phosphatase Non-Receptor Type 11) • WT1 (WT1 Transcription Factor) • ATRX (ATRX Chromatin Remodeler) • CREBBP (CREB binding protein) • SETD2 (SET Domain Containing 2, Histone Lysine Methyltransferase) • CEBPA (CCAAT Enhancer Binding Protein Alpha) • EP300 (E1A binding protein p300)

KRAS mutation • ARID1A mutation • CREBBP mutation • TTN mutation • SETD2 mutation

over3years

Titin mutation in circulatory tumor DNA is associated with efficacy to immune checkpoint blockade in advanced non-small cell lung cancer. (PubMed, Transl Lung Cancer Res)

The presence of mutated TTN in pre-treatment peripheral blood was associated with favorable objective response and survival with ICB administration. Therefore, circulatory TTN mutation may be applicable for guiding ICB immunotherapy in patients with NSCLC.

over 3 years ago

Clinical • Journal • Checkpoint inhibition • IO biomarker

TTN (Titin)

TTN mutation

over3years

TTN/OBSCN 'Double-Hit' predicts favourable prognosis, 'immune-hot' subtype and potentially better immunotherapeutic efficacy in colorectal cancer. (PubMed, J Cell Mol Med)

Bioinformatic algorithm assessment of immunotherapy responses also confirmed this conclusion, and the 'Double-Hit' phenotype was found to be a better predictor of immunotherapy than PD-L1, PD-1, CTLA-4, TMB and microsatellite status. This study revealed CRC patients with TTN/OBSCN 'Double-Hit' was significantly associated favourable prognosis, 'immune-hot' subtype and potentially better immunotherapeutic efficacy.

over 3 years ago

Clinical • Journal • Tumor Mutational Burden • PD(L)-1 Biomarker • IO biomarker

TMB (Tumor Mutational Burden) • MSI (Microsatellite instability) • POLE (DNA Polymerase Epsilon)

POLE mutation • TTN mutation

almost4years

Increased Expression of UBE2T Predicting Poor Survival of Epithelial Ovarian Cancer: Based on Comprehensive Analysis of UBE2s, Clinical Samples, and the GEO Database. (PubMed, DNA Cell Biol)

(IRB Approval No. 2020PS533K).

almost 4 years ago

Clinical • Journal

TP53 (Tumor protein P53) • UBE2C (Ubiquitin Conjugating Enzyme E2 C)

TP53 mutation • TTN mutation

almost4years

Spontaneous mutations in the single TTN gene represent high tumor mutation burden. (PubMed, NPJ Genom Med)

TTN mutation was enriched in samples possessing high immunostimulatory signatures. We suggest that the mutation load within TTN represents high TMB status.

almost 4 years ago

Journal • Tumor Mutational Burden • MSi-H Biomarker

TMB (Tumor Mutational Burden) • MSI (Microsatellite instability) • TTN (Titin)

TMB-H • MSI-H/dMMR • TTN mutation