Varaico: Literature-Extracted Genetic Variants

Gene:KMT2C
Variant:p.R380L
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KMT2C

NM_170606.3:p.R380L

Associated Papers

Circulating cell-free DNA profiling reveals ancestry-dependent genetic variation in metastatic prostate cancer.

Maleknia S et al.

Molecular Biomedicine, 2026

41673362 (PubMed )
Supplement: 43556_2026_405_MOESM2_ESM.xlsx › cfDNA_Variants

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

Tumor microenvironment-preserving gliosarcoma organoids as an in vitro preclinical platform: a comparative analysis with glioblastoma models.

Park J et al.

Journal of Translational Medicine, 2025

40813987 (PubMed )
Supplement: 12967_2025_6952_MOESM2_ESM.xlsx › GS21-01

Genomic and transcriptomic landscapes of metastatic neuroendocrine neoplasms from distinct primary sites and their clinical implications.

Wee K et al.

Scientific Reports, 2025

40328872 (PubMed )
Supplement: 41598_2025_549_MOESM4_ESM.xlsx › Sheet_1

Steroid hormone receptors, exome sequencing and treatment responsiveness of breast cancer patient-derived xenografts originated in a South American country.

Pataccini G et al.

Scientific Reports, 2025

39827242 (PubMed )
Supplement: 41598_2025_86389_MOESM2_ESM.xlsx › Sheet1

Diagnostic yield and clinical impact of germline sequencing in children with CNS and extracranial solid tumors-a nationwide, prospective Swedish study.

Tesi B et al.

The Lancet Regional Health. Europe, 2024

38803632 (PubMed )
Supplement: mmc1.xlsx › Supplementary_table_4

Real-world performance analysis of a novel computational method in the precision oncology of pediatric tumors.

Vodicska B et al.

World Journal of Pediatrics : Wjp, 2023

36914906 (PubMed )
Supplement: 12519_2023_700_MOESM1_ESM.xlsx › Driver_list

The epigenetic modifier lysine methyltransferase 2C is frequently mutated in gastric remnant carcinoma.

Sun B et al.

The Journal of Pathology. Clinical Research, 2023

Novel MSH6 mutation predicted metastasis in eyelid and periocular squamous cell carcinoma.

Luo Y et al.

Journal of the European Academy of Dermatology and Venereology : Jeadv, 2022

Cell-Free DNA Sequencing Reveals Gene Variants in DNA Damage Repair Genes Associated with Prognosis of Prostate Cancer Patients.

Lieb V et al.

Cells, 2022

36429046 (PubMed )
Supplement: cells-11-03618-s001.zip › Suppl._files › Suppl._Table_S2_.xlsx › All

Whole-Exome Sequencing Reveals Clinical Potential of Circulating Tumor DNA from Peritoneal Fluid and Plasma in Endometrial Cancer.

Ju HY et al.

Cancers, 2022

35626111 (PubMed )
Supplement: cancers-14-02506-s001.zip › Supplementary_Tables.xlsx › Supplementary_Table_S2

Effective Menin inhibitor-based combinations against AML with MLL rearrangement or NPM1 mutation (NPM1c).

Fiskus W et al.

Blood Cancer Journal, 2022

35017466 (PubMed )
Supplement: 41408_2021_603_MOESM1_ESM.pdf

Cell-Free DNA Variant Sequencing Using Plasma and AR-V7 Testing of Circulating Tumor Cells in Prostate Cancer Patients.

Lieb V et al.

Cells, 2021

34831445 (PubMed )
Supplement: cells-10-03223-s001.zip › Suppl._Table_S1.xlsx › All

Investigation of PALB2 Mutation and Correlation With Immunotherapy Biomarker in Chinese Non-Small Cell Lung Cancer Patients.

Zhang J et al.

Frontiers in Oncology, 2021

35087742 (PubMed )
Supplement: Table_1.xlsx › Table3_mut_frequency_v3

Molecular-Clinical Correlation in Pediatric Medulloblastoma: A Cohort Series Study of 52 Cases in Taiwan.

Wu KS et al.

Cancers, 2020

32168907 (PubMed )
Supplement: cancers-12-00653-s001.zip › cancers-720756-suppl-XML › cancers-720756-Table_S2.xlsx › ___1

Identification of predictors of drug sensitivity using patient-derived models of esophageal squamous cell carcinoma.

Su D et al.

Nature Communications, 2019

31700061 (PubMed )
Supplement: 41467_2019_12846_MOESM6_ESM.xlsx › Sheet1

Enrichment of short mutant cell-free DNA fragments enhanced detection of pancreatic cancer.

Liu X et al.

Ebiomedicine, 2019

30857943 (PubMed )
Supplement: mmc3.xlsx › mutations_detected_in_cfDNA

RETRACTED: KMT2C Mutations in Diffuse-Type Gastric Adenocarcinoma Promote Epithelial-to-Mesenchymal Transition.

Cho SJ et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2018

Detection of circulating tumour cell clusters in human glioblastoma.

Krol I et al.

British Journal of Cancer, 2018

30065256 (PubMed )
Supplement: 41416_2018_186_MOESM9_ESM.xlsx › Supplementary_Table_S3

The genomic dynamics during progression of lung adenocarcinomas.

Yang B et al.

Journal of Human Genetics, 2017

Ability to Generate Patient-Derived Breast Cancer Xenografts Is Enhanced in Chemoresistant Disease and Predicts Poor Patient Outcomes.

McAuliffe PF et al.

Plos One, 2015

26325287 (PubMed )
Supplement: pone.0136851.s005.xlsx › all

Sporadic hemangioblastomas are characterized by cryptic VHL inactivation.

Shankar GM et al.

Acta Neuropathologica Communications, 2014

25589003 (PubMed )
Supplement: 40478_2014_167_MOESM1_ESM.xlsx › Supplementary_Table_6

Angiomatous meningiomas have a distinct genetic profile with multiple chromosomal polysomies including polysomy of chromosome 5.

Abedalthagafi MS et al.

Oncotarget, 2014

25347344 (PubMed )
Supplement: oncotarget-05-10596-s002.xlsx › Table_S4
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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."