Varaico: Literature-Extracted Genetic Variants

Gene:KMT2C
Variant:p.C391*
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KMT2C

NM_170606.3:p.C391*

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_MOESM3_ESM.xlsx › Common.Cosmic_Mut

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

Beyond BRCA deficiency: Clinical and molecular predictors of survival in patients with BRCA-deficient tubo-ovarian high-grade serous carcinoma.

Zwimpfer TA et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

41040691 (PubMed )
Supplement: media-2.xlsx › Supplementary_Table_S12

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

Molecular patterns and mechanisms of tumorigenesis in HPV-associated and HPV-independent sinonasal squamous cell carcinoma.

Zamuner FT et al.

Nature Communications, 2025

40500270 (PubMed )
Supplement: 41467_2025_59409_MOESM11_ESM.xlsx › Fig_S4B

Whole exome sequencing of multi-regions reveals tumor heterogeneity in Opisthorchis viverrini-associated cholangiocarcinoma.

Sitthirak S et al.

Scientific Reports, 2025

40157958 (PubMed )
Supplement: 41598_2025_95142_MOESM17_ESM.xlsx › Sheet1

Genetic variation and molecular profiling of congenital malformations of the female genital tract based on whole-genome sequencing.

Qiu JJ et al.

World Journal of Pediatrics : Wjp, 2024

Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes.

Rots D et al.

American Journal of Human Genetics, 2024

Genomic and transcriptomic profiles associated with response to eribulin and nivolumab combination in HER-2-negative metastatic breast cancer.

Park C et al.

Cancer Immunology, Immunotherapy : Cii, 2024

39105849 (PubMed )
Supplement: 262_2024_3782_MOESM1_ESM.pdf

A novel 11 base pair deletion in KMT2C resulting in Kleefstra syndrome 2.

Whitford W et al.

Molecular Genetics & Genomic Medicine, 2024

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

Sun B et al.

The Journal of Pathology. Clinical Research, 2023

37395342 (PubMed )
Supplement: CJP2-9-409-s001.pdf

Resistance to anti-HER2 therapy associated with the TSC2 nonsynonymous variant c.4349 C > G (p.Pro1450Arg) is reversed by CDK4/6 inhibitor in HER2-positive breast cancer.

Yang Z et al.

Npj Breast Cancer, 2023

37160904 (PubMed )
Supplement: 41523_2023_542_MOESM1_ESM.pdf

Association of KMT2C/D loss-of-function variants with response to immune checkpoint blockades in colorectal cancer.

Liu R et al.

Cancer Science, 2023

36601880 (PubMed )
Supplement: CAS-114-1229-s004.xlsx › Mutation_information_

KMT2A-D pathogenicity, prevalence, and variation according to a population database.

Larson JK et al.

Cancer Medicine, 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

Tracking Clonal Evolution of Multiple Myeloma Using Targeted Next-Generation DNA Sequencing.

Salomon-Perzyński A et al.

Biomedicines, 2022

Whole-exome sequencing in eccrine porocarcinoma indicates promising therapeutic strategies.

Denisova E et al.

Cancer Gene Therapy, 2022

34045664 (PubMed )
Supplement: 41417_2021_347_MOESM4_ESM.xls › C000-6KNGDL

Global molecular alterations involving recurrence or progression of pediatric brain tumors.

Chen F et al.

Neoplasia (new York, N.y.), 2022

34864569 (PubMed )
Supplement: mmc2.xlsx › DNA-level_alterations

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

Comprehensive molecular analysis of genomic profiles and PD-L1 expression in lung adenocarcinoma with a high-grade fetal adenocarcinoma component.

Suzuki M et al.

Translational Lung Cancer Research, 2021

33889510 (PubMed )
Supplement: tlcr-10-03-1292-supplementary.pdf

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

A novel hotspot and rare somatic mutation p.A138V, at TP53 is associated with poor survival of pancreatic ductal and periampullary adenocarcinoma patients.

Saha G et al.

Molecular Medicine (cambridge, Mass.), 2020

32552660 (PubMed )
Supplement: 10020_2020_183_MOESM6_ESM.xlsx › Sheet3

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

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

Comprehensive analysis of age-related somatic mutation profiles in Chinese young lung adenocarcinoma patients.

Yang B et al.

Cancer Medicine, 2019

The genomic dynamics during progression of lung adenocarcinomas.

Yang B et al.

Journal of Human Genetics, 2017

Genomic Profiling of Large-Cell Neuroendocrine Carcinoma of the Lung.

Miyoshi T et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2017

27507618 (PubMed )
Supplement: 10780432ccr160355-sup-162074_1_supp_3593422_88n10b.xlsx › Supplementary_Table_7_

Comprehensive mutational analysis of primary and relapse acute promyelocytic leukemia.

Madan V et al.

Leukemia, 2016

27063598 (PubMed )
Supplement: leu201669x7.xls › Sheet_1

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

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."