Varaico: Literature-Extracted Genetic Variants

Gene:CTCF
Variant:p.T204fs
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CTCF

NM_006565.4:p.T204fs

Associated Papers

Molecular analysis of the evolutionary history of endometrial and ovarian carcinoma in Lynch syndrome.

Kauppinen AK et al.

International Journal of Cancer, 2025

40772756 (PubMed )
Supplement: IJC-157-2294-s002.xlsx › A_Blood_as_normal

Immunohistochemical "null" pattern of all four mismatch repair proteins in Lynch syndrome-associated small bowel adenocarcinoma: a case report and comprehensive genomic profiling.

Kageyama S et al.

Virchows Archiv : an International Journal of Pathology, 2025

A neomorphic protein interface catalyzes covalent inhibition of RASG12D aspartic acid in tumors.

Weller C et al.

Science (new York, N.y.), 2025

40705880 (PubMed )
Supplement: science.ads0239_data_s1_to_s6.zip › science.ads0239_data_s4.xlsx › Sheet1

Shared chromatin remodeling mutations drive concurrent rhabdomyosarcoma and leukemia in a pediatric patient.

Zhao J et al.

Discover Oncology, 2025

40522594 (PubMed )
Supplement: 12672_2025_2967_MOESM1_ESM.pdf

Decoding the molecular landscape: HER2 and PD-L1 in advanced gastric cancer.

Yao J et al.

Frontiers in Immunology, 2025

40519936 (PubMed )
Supplement: Table1.xlsx › SNV

ASXL1 inactivation and reduced H3K27me3 across central nervous system tumors.

Zhang KY et al.

Acta Neuropathologica, 2024

39141113 (PubMed )
Supplement: 401_2024_2785_MOESM2_ESM.xlsx › STab2

An updated catalog of CTCF variants associated with neurodevelopmental disorder phenotypes.

Price E et al.

Frontiers in Molecular Neuroscience, 2023

37324587 (PubMed )
Supplement: Table_2.xlsx › snvs_all

Histo-molecular characterization of pancreatic cancer with microsatellite instability: intra-tumor heterogeneity, B2M inactivation, and the importance of metastatic sites.

Luchini C et al.

Virchows Archiv : an International Journal of Pathology, 2022

Mutational landscape of normal epithelial cells in Lynch Syndrome patients.

Lee BCH et al.

Nature Communications, 2022

35581206 (PubMed )
Supplement: 41467_2022_29920_MOESM3_ESM.xlsx › SD7

Investigation of discrepant mismatch repair immunohistochemistry and microsatellite instability polymerase chain reaction test results for gynecologic cancers using next-generation sequencing.

Smithgall MC et al.

Human Pathology, 2022

MicroSEC filters sequence errors for formalin-fixed and paraffin-embedded samples.

Ikegami M et al.

Communications Biology, 2021

34912045 (PubMed )
Supplement: 42003_2021_2930_MOESM4_ESM.xlsx › Target_sequencing_clinical

Structure-function relationships explain CTCF zinc finger mutation phenotypes in cancer.

Bailey CG et al.

Cellular and Molecular Life Sciences : Cmls, 2021

Combined DNA repair defects in testicular metastasis from prostate cancer sensitize to immune checkpoint blockade.

Vlachostergios PJ

Current Urology, 2021

Integrative Genomic Analysis of Pediatric Myeloid-Related Acute Leukemias Identifies Novel Subtypes and Prognostic Indicators.

Fornerod M et al.

Blood Cancer Discovery, 2021

34778799 (PubMed )
Supplement: bloodcandisc-2-586-s001.xlsx › Supplementary_Table_12

Serial genomic analysis of endometrium supports the existence of histologically indistinct endometrial cancer precursors.

Aguilar M et al.

The Journal of Pathology, 2021

33506979 (PubMed )
Supplement: PATH-254-20-s006.zip › path5628-sup-0002-FiguresS1-S2 › path5628-sup-FigureS1.pdf

Somatic mutations in lymphocytes in patients with immune-mediated aplastic anemia.

Lundgren S et al.

Leukemia, 2021

33785863 (PubMed )
Supplement: 41375_2021_1231_MOESM3_ESM.xlsx › Book1

Clinical implications of plasma circulating tumor DNA in gynecologic cancer patients.

Charo LM et al.

Molecular Oncology, 2021

32881280 (PubMed )
Supplement: MOL2-15-67-s001.docx

Precision Oncology in Metastatic Uterine Cancer; Croatian First-Year Experience of the Comprehensive Genomic Profiling in Everyday Clinical Practice.

Čerina D et al.

Pathology Oncology Research : Por, 2021

34646088 (PubMed )
Supplement: DataSheet3.xlsx › Sheet1

Genomic profiling reveals high frequency of DNA repair genetic aberrations in gallbladder cancer.

Abdel-Wahab R et al.

Scientific Reports, 2020

33328484 (PubMed )
Supplement: 41598_2020_77939_MOESM1_ESM.xlsx › Sheet1

Invasive apocrine carcinoma of the breast: clinicopathologic features and comprehensive genomic profiling of 18 pure triple-negative apocrine carcinomas.

Sun X et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2020

Mutation analysis in Korean patients with T-cell acute lymphoblastic leukemia.

Park KJ et al.

Pediatric Hematology and Oncology, 2020

Stage IV Colorectal Cancer Patients with High Risk Mutation Profiles Survived 16 Months Longer with Individualized Therapies.

Hendricks A et al.

Cancers, 2020

32046290 (PubMed )
Supplement: cancers-12-00393-s001.zip › cancers-698395-2.revision.supplementary_materials › SuppTables_S1-S7_.xlsx › S5_American_patients_mutations

Classification of gastric cancer by EBV status combined with molecular profiling predicts patient prognosis.

He CY et al.

Clinical and Translational Medicine, 2020

32508039 (PubMed )
Supplement: CTM2-10-353-s003.xlsx › Table_S3

CTCF genetic alterations in endometrial carcinoma are pro-tumorigenic.

Marshall AD et al.

Oncogene, 2017

Next-Generation Sequencing.

Le Gallo M et al.

Advances in Experimental Medicine and Biology, 2017

MonoSeq Variant Caller Reveals Novel Mononucleotide Run Indel Mutations in Tumors with Defective DNA Mismatch Repair.

Walker CJ et al.

Human Mutation, 2016

Patterns of CTCF and ZFHX3 Mutation and Associated Outcomes in Endometrial Cancer.

Walker CJ et al.

Journal of the National Cancer Institute, 2015

Absence of DICER1, CTCF, RPL22, DNMT3A, TRRAP, IDH1 and IDH2 hotspot mutations in patients with various subtypes of ovarian carcinomas.

Zou Y et al.

Biomedical Reports, 2015

Hypomethylation of the CTCFL/BORIS promoter and aberrant expression during endometrial cancer progression suggests a role as an Epi-driver gene.

Hoivik EA et al.

Oncotarget, 2014

High frequency strand slippage mutations in CTCF in MSI-positive endometrial cancers.

Zighelboim I et al.

Human Mutation, 2014

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."