Varaico: Literature-Extracted Genetic Variants

Gene:KMT2C
Variant:p.G315S
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KMT2C

NM_170606.3:p.G315S

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 › B_Tissue_as_normal

Enhanced mutanome analysis towards the induction of neoepitope-reactive T-cell responses for personalized immunotherapy of pancreatic cancer.

Volkmar M et al.

Journal for Immunotherapy of Cancer, 2025

40461160 (PubMed )
Supplement: jitc-13-6-s002.xlsx › Tabelle1

Synergic activity of FGFR2 and MEK inhibitors in the treatment of FGFR2-amplified cancers of unknown primary.

Cavazzoni A et al.

Molecular Therapy : the Journal of the American Society of Gene Therapy, 2024

SPTLC2 variants are associated with early-onset ALS and FTD due to aberrant sphingolipid synthesis.

Naruse H et al.

Annals of Clinical and Translational Neurology, 2024

38316966 (PubMed )
Supplement: ACN3-11-946-s001.pdf

Base-Excision Repair Mutational Signature in Two Sebaceous Carcinomas of the Eyelid.

Sangiorgi E et al.

Genes, 2023

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

Sun B et al.

The Journal of Pathology. Clinical Research, 2023

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

Clonal germinal center B cells function as a niche for T-cell lymphoma.

Fujisawa M et al.

Blood, 2022

35921527 (PubMed )
Supplement: BLOOD_BLD-2022-015451-mmc1.xlsx › supplemental_Table_6

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

Monitoring of Leukemia Clones in B-cell Acute Lymphoblastic Leukemia at Diagnosis and During Treatment by Single-cell DNA Amplicon Sequencing.

Meyers S et al.

Hemasphere, 2022

35291210 (PubMed )
Supplement: hs9-6-e700-s004.xlsx › XF104

Multifocal Organoid Capturing of Colon Cancer Reveals Pervasive Intratumoral Heterogenous Drug Responses.

Kim SC et al.

Advanced Science (weinheim, Baden-wurttemberg, Germany), 2022

34918496 (PubMed )
Supplement: ADVS-9-2103360-s007.xlsx › Table_S3B

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

Exome sequencing identifies novel somatic variants in African American esophageal squamous cell carcinoma.

Erkizan HV et al.

Scientific Reports, 2021

ARID2 deficiency promotes tumor progression and is associated with higher sensitivity to chemotherapy in lung cancer.

Moreno T et al.

Oncogene, 2021

33742126 (PubMed )
Supplement: EMS118565-supplement-Suppl__Table_3.xlsx › Original_screenig

Genetic Characterization of Cancer of Unknown Primary Using Liquid Biopsy Approaches.

Laprovitera N et al.

Frontiers in Cell and Developmental Biology, 2021

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

Does breast carcinoma belong to the Lynch syndrome tumor spectrum? - Somatic mutational profiles vs. ovarian and colorectal carcinomas.

Porkka NK et al.

Oncotarget, 2020

32292574 (PubMed )
Supplement: oncotarget-11-1244-s005.xlsx › Sheet1

Genetic Variants Detected Using Cell-Free DNA from Blood and Tumor Samples in Patients with Inflammatory Breast Cancer.

Winn JS et al.

International Journal of Molecular Sciences, 2020

32075053 (PubMed )
Supplement: ijms-21-01290-s001.zip › ijms-703397_SI › Supplementary_Table_3.xlsx › Supplementary_Table_2_final

MiR-509-3 augments the synthetic lethality of PARPi by regulating HR repair in PDX model of HGSOC.

Sun C et al.

Journal of Hematology & Oncology, 2020

32005272 (PubMed )
Supplement: 13045_2020_844_MOESM10_ESM.xlsx › All.OvarianDriveGene

Mutation heterogeneity between primary gastric cancers and their matched lymph node metastases.

Lee HH et al.

Gastric Cancer : Official Journal of the International Gastric Cancer Association and the Japanese Gastric Cancer Association, 2019

Targeted mutation detection in breast cancer using MammaSeq™.

Smith NG et al.

Breast Cancer Research : Bcr, 2019

30736836 (PubMed )
Supplement: 13058_2019_1102_MOESM2_ESM.xlsx › Sheet1

Tumor mutational profile of triple negative breast cancer patients in Thailand revealed distinctive genetic alteration in chromatin remodeling gene.

Niyomnaitham S et al.

Peerj, 2019

30828495 (PubMed )
Supplement: peerj-07-6501-s001.xlsx › KMT2C

appreci8: a pipeline for precise variant calling integrating 8 tools.

Sandmann S et al.

Bioinformatics (oxford, England), 2018

29945233 (PubMed )
Supplement: bty518_supplementary_data_s7.xlsx › TN_Mutations_Filter_2

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

Genomic and Transcriptomic Characterization Links Cell Lines with Aggressive Head and Neck Cancers.

Cheng H et al.

Cell Reports, 2018

30380422 (PubMed )
Supplement: NIHMS1511993-supplement-6.xlsx › Table_S5

Whole-exome analysis in osteosarcoma to identify a personalized therapy.

Chiappetta C et al.

Oncotarget, 2017

Novel compound heterozygous MYO7A mutations in Moroccan families with autosomal recessive non-syndromic hearing loss.

Bakhchane A et al.

Plos One, 2017

28472130 (PubMed )
Supplement: pone.0176516.s002.xlsx › Feuil1

Tumor Evolution in Two Patients with Basal-like Breast Cancer: A Retrospective Genomics Study of Multiple Metastases.

Hoadley KA et al.

Plos Medicine, 2016

27923045 (PubMed )
Supplement: pmed.1002174.s018.xlsx › SuppTable6_A7_Tier1_SNVs

Co-existence of BRAF and NRAS driver mutations in the same melanoma cells results in heterogeneity of targeted therapy resistance.

Raaijmakers MI et al.

Oncotarget, 2016

27791198 (PubMed )
Supplement: oncotarget-07-77163-s002.xlsx › Patient_2_late_met_1

Search for the potential "second-hit" mechanism underlying the onset of familial hemophagocytic lymphohistiocytosis type 2 by whole-exome sequencing analysis.

Gao L et al.

Translational Research : the Journal of Laboratory and Clinical Medicine, 2016

BRAF alteration status and the histone H3F3A gene K27M mutation segregate spinal cord astrocytoma histology.

Shankar GM et al.

Acta Neuropathologica, 2016

26487540 (PubMed )
Supplement: 401_2015_1492_MOESM2_ESM.xlsx › Shankar_STable2

Colorectal Cancer Genetic Heterogeneity Delineated by Multi-Region Sequencing.

Lu YW et al.

Plos One, 2016

27023146 (PubMed )
Supplement: pone.0152673.s002.xlsx › p1-1

Integrative Clinical Sequencing in the Management of Refractory or Relapsed Cancer in Youth.

Mody RJ et al.

Jama, 2015

Colorectal adenomas contain multiple somatic mutations that do not coincide with synchronous adenocarcinoma specimens.

Vaqué JP et al.

Plos One, 2015

25775023 (PubMed )
Supplement: pone.0119946.s007.xls › Hoja5

Mutation Screening of 1,237 Cancer Genes across Six Model Cell Lines of Basal-Like Breast Cancer.

Olsson E et al.

Plos One, 2015

26670335 (PubMed )
Supplement: pone.0144528.s005.xlsx › TableS3
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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."