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MUTYH (MutY homolog)
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3d
MUTYH: Possibly another important gene in ovarian cancer? (PubMed, Gynecol Oncol)
No abstract available
Journal
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MUTYH (MutY homolog)
8d
Precision genome editing and in-cell measurements of oxidative DNA damage repair enable functional and mechanistic characterization of cancer-associated MUTYH variants. (PubMed, Nucleic Acids Res)
Using a MUTYH-specific lesion reporter in which we site-specifically incorporate an 8-oxoG·A lesion in a fluorescent protein gene, we measure endogenous MUTYH enzymatic activity and classify them as pathogenic or benign. Further, we modify this reporter to incorporate the MUTYH repair intermediate (8-oxoG across from an abasic site) and validate it with co-immunoprecipitation experiments to demonstrate its ability to characterize the mechanism by which MUTYH mutants are defective at DNA repair.
Journal
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MUTYH (MutY homolog)
14d
Molecular profiling of basal cell carcinoma of the prostate: A case report and literature review. (PubMed, Urol Case Rep)
Upon literature review, we found that prostate BCC mutations disrupt cell growth, epigenetic regulation, and cell fate determination. With no consensus guidelines available, experimental targeted therapies have shown promise for prostate BCC management.
Journal
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NOTCH1 (Notch 1) • KMT2D (Lysine Methyltransferase 2D) • PIK3R1 (Phosphoinositide-3-Kinase Regulatory Subunit 1) • MSH3 (MutS Homolog 3) • NBN (Nibrin Nijmegen Breakage Syndrome 1 (Nibrin)) • MUTYH (MutY homolog)
20d
Pathogenic germline variants in patients with early-onset colorectal cancer according to phenotype. (PubMed, Eur J Hum Genet)
Phenotypic features should be taken into account for testing decision. Evaluating the cost-effectiveness of testing all CRC cases < 41 years, as well as how it aligns with the constraints of various healthcare systems, is warranted.
Journal
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TP53 (Tumor protein P53) • PTEN (Phosphatase and tensin homolog) • STK11 (Serine/threonine kinase 11) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • SMAD4 (SMAD family member 4) • PMS2 (PMS1 protein homolog 2) • CDH1 (Cadherin 1) • POLD1 (DNA Polymerase Delta 1) • EPCAM (Epithelial cell adhesion molecule) • MSH3 (MutS Homolog 3) • MUTYH (MutY homolog) • BMPR1A (Bone Morphogenetic Protein Receptor Type 1A)
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MSI-H/dMMR
21d
Clinical and Endoscopic Characteristics of Patients with Oligopolyposis. (PubMed, J Clin Med)
No significant differences in the rates of colorectal cancer or death were observed between carriers and non-carriers. Only a small proportion of patients with oligopolyposis were found to be mutation carriers, with significant ethnic differences in mutation frequency but no notable differences in clinical features, colorectal cancer rates, or mortality.
Journal
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APC (APC Regulator Of WNT Signaling Pathway) • MUTYH (MutY homolog)
21d
Saturation mapping of MUTYH variant effects using DNA repair reporters. (PubMed, bioRxiv)
We recapitulate known functional differences between pathogenic founder alleles, and highlight sites of complete missense intolerance, including residues that intercalate DNA and coordinate essential Zn 2+ or Fe-S clusters. This map provides a resource to resolve the 1,032 existing missense VUS and 90 variants with conflicting interpretations in MUTYH , and demonstrates a scalable strategy to interrogate other clinically relevant DNA repair factors.
Journal
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MUTYH (MutY homolog)
1m
Genetic Landscape of Mucosal Melanoma: Identifying Pathogenic Germline Variants. (PubMed, Pigment Cell Melanoma Res)
Our findings reveal a high prevalence (50%) of pathogenic germline variants among MM patients, with CHEK2 and APC variants identified in 12.5% of cases each, and individual variants detected in MUTYH, ATM, RB1, and RECQL4. These results suggest a germline-driven cancer susceptibility in MM, exceeding the 15% prevalence observed in cutaneous melanoma using the same inclusion criteria.
Journal
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RB1 (RB Transcriptional Corepressor 1) • CHEK2 (Checkpoint kinase 2) • MUTYH (MutY homolog) • RECQL4( RecQ Like Helicase 4)
1m
Prolonged Low-Dose Chromium (VI) Exposure Induces Oxidative Stress, Apoptotic Genes and Epigenetic Modification of DNA Repair Genes in the Brain and Kidney of Swiss Albino Mice. (PubMed, J Appl Toxicol)
Methylation-specific PCR revealed DNA hypermethylation as a factor in the transcriptional reduction of specific DNA repair genes in these tissues. This study denotes that long-term low-dose Cr (VI) exposure not only surges oxidative stress and changes histoarchitecture and gene expression but also results in epigenetic modifications via DNA hypermethylation, impacting organs like the brain and kidney.
Preclinical • Journal
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MLH1 (MutL homolog 1) • RAD51 (RAD51 Homolog A) • DNMT1 (DNA methyltransferase 1) • MUTYH (MutY homolog) • SIRT1 (Sirtuin 1) • CAT (Catalase)
1m
Germline Mutations in Renal Neoplasms and Their Clinicopathological Correlations. (PubMed, Int J Surg Pathol)
Although they cannot be used to determine a definite renal entity, they may also contribute to the pathogenesis of renal neoplasms. Tumors need to be diagnosed based on morphology, immunohistochemistry, and other molecular evidence.
Journal
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SDHB (Succinate Dehydrogenase Complex Iron Sulfur Subunit B) • TSC1 (TSC complex subunit 1) • BARD1 (BRCA1 Associated RING Domain 1) • MUTYH (MutY homolog) • FLCN (Folliculin)
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BARD1 mutation
1m
Late Recurrent Spitz Melanoma With a TMEM106B::BRAF Fusion. (PubMed, Am J Dermatopathol)
The BRAF fusion supports the diagnosis of Spitz melanoma, a genetically defined subset of Spitzoid melanoma. This case represents the first report of a TMEM106B::BRAF fusion in melanoma, emphasizing the critical role of molecular profiling in diagnosing and managing this malignancy, and suggesting a potential avenue for future therapeutic exploration.
Journal
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BRAF (B-raf proto-oncogene) • CHEK2 (Checkpoint kinase 2) • MUTYH (MutY homolog)
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BRAF mutation • BRAF fusion
1m
CRISPR/Cas9-Targeted Myostatin Deletion Improves the Myogenic Differentiation Parameters for Muscle-Derived Stem Cells in Mice. (PubMed, J Dev Biol)
In addition, targeting myostatin could be a beneficial therapeutic strategy to promote MD and to restore muscle loss. In conclusion, the data suggest that myostatin editing using CRISPR/Cas9 could be a potential therapeutic manipulation to improve the regenerative capacity of muscle stem cells before in vivo application.
Preclinical • Journal
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mTOR (Mechanistic target of rapamycin kinase) • MUTYH (MutY homolog) • DCN (Decorin) • ACVR2A (Activin A Receptor Type 2A)
2ms
Pathogenic MUYTH and Novel H3F3A Variants in Glioblastoma: A Case Report and Literature Review (P4-5.005). (PubMed, Neurology)
Dr. Dhawan has nothing to disclose.
Review • Journal
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MGMT (6-O-methylguanine-DNA methyltransferase) • MUTYH (MutY homolog) • H3-3A (H3.3 Histone A)
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IDH wild-type
2ms
Exome Sequencing for Head and Neck Cancer Predisposition Genes. (PubMed, medRxiv)
Potential interactions between these genes and tobacco smoking were also identified. Our study utilized targeted gene sequencing and whole-exome sequencing approaches to identify cancer susceptibility genes, while further studies are needed to confirm the associations observed with HNC risk.
Journal • BRCA Biomarker
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BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • BAP1 (BRCA1 Associated Protein 1) • RAD51B (RAD51 Paralog B) • MUTYH (MutY homolog)
2ms
MYH knockdown in pancreatic cancer cells creates an exploitable DNA repair vulnerability. (PubMed, Neoplasia)
Finally, we showed that MYH knockdown in PDAC cells sensitised them to the anti-proliferative and anti-clonogenic effects of oxaliplatin and olaparib. Our findings identify a potential novel therapeutic approach for PDAC that induces a therapeutically exploitable DNA repair vulnerability.
Journal
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MUTYH (MutY homolog)
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Lynparza (olaparib) • oxaliplatin
2ms
FROM ONCOLOGIST TO SURGEON - GENETICS IN COLORECTAL METASTASIS FOR SURGEONS. (PubMed, Arq Bras Cir Dig)
These diseases are linked to a high risk of developing cancer. With the development of treatments in metastatic disease and the use of targeted therapies and their biomarkers, it was possible to evaluate them within clinical studies both in the primary tumor and in the correspondence of metastases.
Review • Journal
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PTEN (Phosphatase and tensin homolog) • MSH2 (MutS Homolog 2) • MUTYH (MutY homolog)
2ms
Malignant melanoma arising in a sebaceous naevus leading to the discovery of a pathogenic germline MUTYH mutation: a case report. (PubMed, Clin Exp Dermatol)
No abstract available
Journal
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MUTYH (MutY homolog)
2ms
Digenic Inheritance of Monoallelic MUTYH and POLE Germline Variants in Adrenocortical Carcinoma: Implications for Tumorigenesis and Immunotherapy. (PubMed, Clin Genet)
Collision of monoallelic MUTYH and POLE germline variants in a patient with adrenocortical carcinoma who achieved a strong response to immunotherapy.
Journal • IO biomarker
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MUTYH (MutY homolog)
2ms
The Diagnostic Yield of Panel Versus Exome Sequencing to Identify Hereditary Cancer Disorders in Pediatric Cancer. (PubMed, J Pediatr Hematol Oncol)
Despite identifying variants in candidate CPS genes (MC1R, EXT2) not included on common NGS panels and known CPS genes (MUTYH, BLM) absent from this study's panels, the diagnostic yield of clinically actionable CPS variants did not substantially increase with TES compared with standard NGS panels in pediatric cancer patients. In conclusion, for most cases, panel testing remains appropriate for CPS diagnosis in pediatric cancer within typical clinical settings.
Journal
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RB1 (RB Transcriptional Corepressor 1) • MUTYH (MutY homolog)
2ms
Association of Germline Pathogenic Variants in MUTYH and Other DNA Damage Response Genes With Lung Cancer Risk Among Non-Hispanic Whites and African Americans. (PubMed, JCO Precis Oncol)
Germline variants in DDR genes appear to be associated with lung cancer, particularly when examined by gene subtype and morphologic subtype. MUTYH, a gene historically associated with colorectal and other GI malignancies, emerged as a candidate gene that should be examined in individuals who do not have a significant smoking history.
Journal
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MUTYH (MutY homolog)
3ms
Los olvidados: Non-BRCA variants associated with Hereditary breast cancer in Mexican population. (PubMed, Breast Cancer Res)
Multi-gene testing implementation improves the detection of often overlooked genes related to HBOC pathogenesis and treatment. Non-BRCA GPVs in Northern Mexico correspond to one-third of the HBOC cases, including HR and DDR pathways genes that would be misdiagnosed if not tested. HR patient carriers are potential targets of iPARP therapies. The optimal approach to cancer treatment for non-BRCA mutation carriers warrants further investigation to develop newer therapies.
Journal • BRCA Biomarker
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TP53 (Tumor protein P53) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • PALB2 (Partner and localizer of BRCA2) • BRCA (Breast cancer early onset) • CHEK2 (Checkpoint kinase 2) • MUTYH (MutY homolog)
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PALB2 mutation
3ms
Adenomas from individuals with pathogenic biallelic variants in the MUTYH and NTHL1 genes demonstrate base excision repair tumour mutational signature profiles similar to colorectal cancers, expanding potential diagnostic and variant classification applications. (PubMed, Transl Oncol)
SBS18+SBS36 and SBS30 were enriched in adenomas at comparable proportions to those observed in CRCs from biallelic MUTYH and biallelic NTHL1 cases, respectively. Therefore, testing adenomas may improve the identification of biallelic cases and facilitate variant classification, ultimately enabling opportunities for CRC prevention.
Journal
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MUTYH (MutY homolog)
3ms
Landscape of Multilocus Inherited Neoplasia Allele Syndrome in Mexican Population. (PubMed, JCO Glob Oncol)
This is the first Mexican MINAS report and the largest Latin American cohort. We detected a higher prevalence of MINAS than other populations (5.9%). We found a tendency for additive phenotypical effect and, in some MINAS combinations, a modification in the age of diagnosis.
Journal • BRCA Biomarker
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BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • CHEK2 (Checkpoint kinase 2) • MUTYH (MutY homolog)
3ms
Contributing factors to the oxidation-induced mutational landscape in human cells. (PubMed, Nat Commun)
Transcriptional asymmetry of KBrO3-induced mutations in OGG1- and Pol η-deficient cells also demonstrates transcription-coupled repair can prevent 8-oxoG-induced mutation. Thus, oxidant chemistry, chromatin structures, and DNA repair processes combine to dictate the oxidative mutational landscape in human genomes.
Journal
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MUTYH (MutY homolog) • OGG1 (8-Oxoguanine DNA glycosylase) • DRD (DNA Repair Deficiency)
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DDR
4ms
High- and Moderate-Risk Variants Among Breast Cancer Patients and Healthy Donors Enrolled in Multigene Panel Testing in a Population of Central Russia. (PubMed, Int J Mol Sci)
The BLM, NBN, and MUTYH genes did not demonstrate associations with BC risk. Finding deleterious mutations in BC patients is important for diagnosis and management; in controls, it opens up the possibility of prevention and early diagnostics.
Journal • BRCA Biomarker
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BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • PALB2 (Partner and localizer of BRCA2) • RAD51C (RAD51 paralog C) • RAD50 (RAD50 Double Strand Break Repair Protein) • BARD1 (BRCA1 Associated RING Domain 1) • NBN (Nibrin Nijmegen Breakage Syndrome 1 (Nibrin)) • MUTYH (MutY homolog) • XRCC2 (X-Ray Repair Cross Complementing 2)
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PALB2 mutation • RAD51C mutation • RAD50 mutation • BARD1 mutation • BLM mutation • NBN mutation
4ms
Increased frequency of CHEK2 germline pathogenic variants among individuals with dermatofibrosarcoma protuberans. (PubMed, Genet Med Open)
This study of multiple cohorts identifies CHEK2 as a candidate susceptibility gene for DFSP. Additional epidemiologic and functional studies are needed to further characterize this potential gene-tumor relationship.
Journal
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TP53 (Tumor protein P53) • ERCC1 (Excision repair cross-complementation group 1) • CHEK2 (Checkpoint kinase 2) • ERCC5 (ERCC Excision Repair 5 Endonuclease 2) • MUTYH (MutY homolog) • DOCK8 (Dedicator Of Cytokinesis 8) • RECQL4( RecQ Like Helicase 4)
4ms
Four pathogenic variants co-occurring in a MINAS early-onset breast cancer. (PubMed, Tumori)
Currently, there are no predictive tools available to determine organ-specific cancer risk in MINAS patients. Given the uncertainty in predicting the phenotypic effect of multiple variants in CSGs, ongoing clinical surveillance and sharing data from complex cases are crucial for improving risk stratification in this condition.
Journal
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PALB2 (Partner and localizer of BRCA2) • PMS2 (PMS1 protein homolog 2) • MUTYH (MutY homolog)
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PALB2 mutation
4ms
Homologous recombination deficiency in pancreatic neuroendocrine tumors. (PubMed, Future Oncol)
However, thanks to the SNP analysis, a consistent number of partial or complete single-copy deletions or duplications in several chromosomes. The AmoyDX HRD focus assay performed well on pancreatic samples, despite being originally designed for ovarian cancer and used on samples stored for over a year. Larger studies are needed to further assess the role of HRD assays in pNETs research.
Journal • BRCA Biomarker
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BRCA2 (Breast cancer 2, early onset) • HRD (Homologous Recombination Deficiency) • BRCA (Breast cancer early onset) • CHEK2 (Checkpoint kinase 2) • MUTYH (MutY homolog)
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HRD • CHEK2 mutation
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AmoyDx® HRD Focus Panel
5ms
Malignant Epithelioid Angiomyolipoma (eAML)/PEComa of the Kidney: A Comprehensive Genomic Profiling (CGP) Study (SUO 2024)
Renal malignant eAML also known as malignant PEComa of the kidney is an exceedingly rare tumor with propensity for malignant behavior that frequently displays a variety of germline mutations as well as GA indicative of potential efficacy of MTOR pathway inhibitors.
Tumor mutational burden • BRCA Biomarker • MSi-H Biomarker • PARP Biomarker • PD(L)-1 Biomarker • IO biomarker
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EGFR (Epidermal growth factor receptor) • PD-L1 (Programmed death ligand 1) • TP53 (Tumor protein P53) • BRCA2 (Breast cancer 2, early onset) • MSI (Microsatellite instability) • PTEN (Phosphatase and tensin homolog) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • RB1 (RB Transcriptional Corepressor 1) • ARID1A (AT-rich interaction domain 1A) • CDKN2B (Cyclin Dependent Kinase Inhibitor 2B) • ATRX (ATRX Chromatin Remodeler) • TSC2 (TSC complex subunit 2) • CHEK2 (Checkpoint kinase 2) • CD36 (thrombospondin receptor) • MUTYH (MutY homolog) • FLCN (Folliculin) • MLANA (Melan-A) • FANCC (FA Complementation Group C)
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PD-L1 expression • TP53 mutation • MSI-H/dMMR • CHEK2 mutation • TSC2 mutation • MTOR mutation • PD-L1-L
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PD-L1 IHC 22C3 pharmDx
5ms
Mismatch Repair (MMR) and Homologous Recombination (HR) Deficiency: Real-Life Applications of biomarkers for complementary approaches in Epithelial Ovarian Cancer (AIOM 2024)
HRD genomic instability tests and multigene panel assessments serve as synergistic tools in EOC clinical settings, proving essential for identifying patients likely to benefit from PARPi therapy. These tools also enhance the detection of HRR and MMR gene variants, aiding in preventive care. Further investigations into the genetic profiles of HRD-negative tumors are crucial for advancing cancer risk management and developing novel therapeutic avenues.
Clinical • Mismatch repair • BRCA Biomarker • PARP Biomarker
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BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • MLH1 (MutL homolog 1) • PMS2 (PMS1 protein homolog 2) • BRCA (Breast cancer early onset) • CHEK2 (Checkpoint kinase 2) • RAD51C (RAD51 paralog C) • RAD51D (RAD51 paralog D) • MUTYH (MutY homolog)
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BRCA2 mutation • BRCA1 mutation • HRD • BRCA wild-type
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Myriad myChoice® CDx
5ms
Germline pathogenic variants in prostate cancer. (PubMed, Pathol Res Pract)
Individuals with a family history of cancer were significantly more likely to have a pathogenic or likely pathogenic variant than those without one (p = 0.002). Overall, our results show the necessity for future research with a larger sample size to better explain the relationship between clinicopathologic data and genetic variants.
Journal • BRCA Biomarker
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TP53 (Tumor protein P53) • BRCA2 (Breast cancer 2, early onset) • PALB2 (Partner and localizer of BRCA2) • CHEK2 (Checkpoint kinase 2) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • NBN (Nibrin Nijmegen Breakage Syndrome 1 (Nibrin)) • MUTYH (MutY homolog) • HOXB13 (Homeobox B13) • LZTR1 (Leucine Zipper Like Transcription Regulator 1)
5ms
APEX1 Polymorphisms Affect Acute Myeloid Leukemia Risk, and Its Expression Is Involved in Cell Proliferation and Differentiation. (PubMed, Int J Lab Hematol)
In the GSE48558 dataset, AML cells and normal CD34+ cells expressed APEX1 at higher levels than did granulocytes (p < 0.01). Functional experiments revealed that APEX1 knockdown led to a reduction in AML cell proliferation. These findings indicated that APEX1 polymorphisms were a potential risk factor for AML and highlighted the important role of APEX1 in regulating AML cell differentiation and proliferation.
Journal
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CD34 (CD34 molecule) • MUTYH (MutY homolog) • XRCC1 (X-Ray Repair Cross Complementing 1) • APEX1 (Apurinic/Apyrimidinic Endodeoxyribonuclease 1)
5ms
Clinical Assessment and Genetic Testing for Hereditary Polyposis Syndromes in an Italian Cohort of Patients with Colorectal Polyps. (PubMed, Cancers (Basel))
Our findings indicate that stringent NCCN eligibility criteria for molecular screening may lead to missing some of the patients affected by hereditary polyposis syndromes. This highlights the need for a careful evaluation of patients' clinical manifestations, polyp number, age of polyp onset, and family history to select appropriate candidates for molecular diagnosis of these conditions.
Journal
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PTEN (Phosphatase and tensin homolog) • STK11 (Serine/threonine kinase 11) • SMAD4 (SMAD family member 4) • APC (APC Regulator Of WNT Signaling Pathway) • MUTYH (MutY homolog) • BMPR1A (Bone Morphogenetic Protein Receptor Type 1A)
5ms
Prospective germline sequencing of patients with gliomas, glioneuronal or neuronal tumors (SNO 2024)
Clinical germline sequencing identifies a germline mutation in a high proportion of patients with CNS tumors. Biallelic inactivation was most commonly identified in tumors from patients with germline TP53 or NF1 mutations and were less common in patients with a germline MMR alteration.
Clinical • BRCA Biomarker
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TP53 (Tumor protein P53) • BRCA2 (Breast cancer 2, early onset) • IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2) • NF1 (Neurofibromin 1) • CHEK2 (Checkpoint kinase 2) • MUTYH (MutY homolog)
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TP53 mutation • NF1 mutation • CHEK2 mutation • IDH wild-type
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MSK-IMPACT
5ms
Carrier Frequency and Incidence of MUTYH-Associated Polyposis Based on Database Analysis in East Asians and Koreans. (PubMed, Ann Lab Med)
This was the first study to investigate the frequency of carriers of MUTYH-associated polyposis in East Asians, including specific subgroups, utilizing gnomAD and a Korean genome database. Our data provide valuable reference information for future investigations of MUTYH-associated polyposis to understand the genetic diversity and specific variants associated with this condition in East Asian populations.
Journal
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MUTYH (MutY homolog)
5ms
Genomic and Clinicopathologic Profiling of Breast Invasive Lobular Carcinoma in Patients with Germline Predisposition (SABCS 2024)
Despite the similarities between ILCs arising in the germline and sporadic settings, significant differences in their clinicopathologic and genomic features were identified, such as a higher rate of HER2-positivity and an enrichment in somatic genetic alterations in ERBB2 and in chromatin remodeling genes. These findings highlight opportunities for treatment personalization in patients with ILC who have germline predisposition.
Clinical • BRCA Biomarker
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HER-2 (Human epidermal growth factor receptor 2) • ER (Estrogen receptor) • TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • ARID1A (AT-rich interaction domain 1A) • KMT2D (Lysine Methyltransferase 2D) • KMT2C (Lysine Methyltransferase 2C) • PMS2 (PMS1 protein homolog 2) • CDH1 (Cadherin 1) • CHEK2 (Checkpoint kinase 2) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • KDM6A (Lysine Demethylase 6A) • MUTYH (MutY homolog) • KMT2B (Lysine Methyltransferase 2B) • LZTR1 (Leucine Zipper Like Transcription Regulator 1)
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HER-2 positive • HER-2 negative
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MSK-IMPACT
5ms
Two Decades of Progress in Personalized Medicine of Colorectal Cancer in Serbia-Insights from the Institute for Oncology and Radiology of Serbia. (PubMed, Biomedicines)
Although significant improvements in CRC management have occurred globally in recent years, a strategic approach leading to population-based systemic solutions is required. The high incidence of young-onset CRC and the growing elderly population due to a rise in life expectancy will be especially important factors for countries with limited healthcare resources like Serbia.
Journal
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KRAS (KRAS proto-oncogene GTPase) • BRAF (B-raf proto-oncogene) • NRAS (Neuroblastoma RAS viral oncogene homolog) • APC (APC Regulator Of WNT Signaling Pathway) • RAS (Rat Sarcoma Virus) • CHEK2 (Checkpoint kinase 2) • MUTYH (MutY homolog)
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KRAS mutation • BRAF mutation • NRAS mutation • BRAF V600 • RAS mutation • CHEK2 mutation
5ms
Comparative targeted genome profiling between solid and liquid biopsies in gastroenteropancreatic neuroendocrine neoplasms (GEP-NENs): a proof-of-concept pilot study. (PubMed, Neuroendocrinology)
This pilot study explores the applicability of LB in GEP-NETs MP evaluation. Further studies with larger cohorts are needed to validate LB and to define the clinical impact.
Journal • Liquid biopsy • Tumor mutational burden • Biopsy
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TMB (Tumor Mutational Burden) • PTEN (Phosphatase and tensin homolog) • ARID1A (AT-rich interaction domain 1A) • mTOR (Mechanistic target of rapamycin kinase) • ATRX (ATRX Chromatin Remodeler) • TSC2 (TSC complex subunit 2) • SETD2 (SET Domain Containing 2, Histone Lysine Methyltransferase) • MUTYH (MutY homolog) • DAXX (Death-domain associated protein) • DEPDC5 (DEP Domain Containing 5, GATOR1 Subcomplex Subunit) • MEN1 (Menin 1)
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PTEN mutation • ARID1A mutation • TSC2 mutation • MTOR mutation
6ms
Germline DNA Damage Repair Gene Alterations in Patients with Metachronous Breast and Colorectal Cancer. (PubMed, Int J Mol Sci)
A significant fraction of BC/CRC patients with a family history of these tumors harbored deleterious germline variants in DNA repair genes. Our findings can lead to strategies to improve the diagnosis, genetic counseling, and treatment of patients and their relatives.
Journal
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MLH1 (MutL homolog 1) • MAP3K1 (Mitogen-Activated Protein Kinase Kinase Kinase 1) • MUTYH (MutY homolog) • MAD1L1 (Mitotic Arrest Deficient 1 Like 1) • NOS3 (Nitric oxide synthase 3) • LAMA1 (Laminin Subunit Alpha 1) • PABPC1 (Poly(A) Binding Protein Cytoplasmic 1)
6ms
A maternal germline mutator phenotype in a family affected by heritable colorectal cancer. (PubMed, Genetics)
Surprisingly, we detect no significant elevation of the C>A mutation rate in children born to a father with the same MUTYH genotype, and we similarly find that the mutator effect of the mouse homolog Mutyh appears to be localized to embryonic development, not the spermatocytes. Our results suggest that maternal MUTYH variants can cause germline mutations by attenuating the repair of oxidative DNA damage in the early embryo.
Journal
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MUTYH (MutY homolog)
6ms
Comparative sequencing study of mismatch repair and homology-directed repair genes in endometrial cancer and breast cancer patients from Kazakhstan. (PubMed, Int J Cancer)
One patient who developed breast cancer first and endometrial cancer later carried a novel frameshift variant in MSH6. Our results indicate that MMR and HDR gene variants with predicted pathogenicity occur at substantial frequencies in both breast and endometrial cancer patients from the Kazakh population.
Journal • Mismatch repair
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BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • BARD1 (BRCA1 Associated RING Domain 1) • MUTYH (MutY homolog) • FANCM (FA Complementation Group M) • SLX4 (SLX4 Structure-Specific Endonuclease Subunit)
6ms
The Adrenal Pheochromocytoma Cell Line PC12 Efficiently Promotes the Regeneration Capability of Adipose Tissue-Derived Mesenchymal Stem Cells in Myogenesis: A Particular Approach to Improving Skeletal Muscle Cell Regeneration. (PubMed, Iran J Med Sci)
Differentiation of ADSCs was induced by using 3 μg/mL 5-azacytidine for 24 hours...Coculturing PC12 cells and ADSCs improves the efficiency of myogenic differentiation. However, the effectiveness of myogenic differentiation depends on the proportions of administered PC12 cells.
Preclinical • Journal
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MUTYH (MutY homolog)
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azacitidine
6ms
Synchronous Seminoma of Testis and Renal Cell Carcinoma: A Rare Case Report. (PubMed, Medicina (Kaunas))
Chemotherapy with a Bleomycin, Etoposide, and Cisplatin (BEP) regimen was carried out...Treatment with targeted therapy with Sunitinib was started because the risk was favourable according to the Heng criteria... According to the authors, the occurrence of synchronous primary tumours is linked to one's genetic predisposition. DNA sequencing of tumour tissue could provide more information on the corresponding aetiopathogenesis.
Journal
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STK11 (Serine/threonine kinase 11) • BAP1 (BRCA1 Associated Protein 1) • CHEK2 (Checkpoint kinase 2) • MUTYH (MutY homolog)
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cisplatin • sunitinib • etoposide IV • bleomycin
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