Varaico: Literature-Extracted Genetic Variants

Gene:CDKN2A
Variant:p.Q50_V51Splc
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CDKN2A

NM_000077.5:p.Q50_V51Splc

Associated Papers

PRIME: an interpretable artificial intelligence model based on liquid biopsy improves prediction of progression risk in non-small cell lung cancer.

Wang Y et al.

Military Medical Research, 2026

41491583 (PubMed )
Supplement: 40779_2025_679_MOESM1_ESM.xlsx › Table_S9

Comprehensive Evaluation of a 1021-Gene Panel in FFPE and Liquid Biopsy for Analytical and Clinical Use.

Meintani A et al.

International Journal of Molecular Sciences, 2025

The complexity of tobacco smoke-induced mutagenesis in head and neck cancer.

Torrens L et al.

Nature Genetics, 2025

40164736 (PubMed )
Supplement: 41588_2025_2134_MOESM4_ESM.xlsx › Supplementary_Table_15

Tumor DNA from tumor in situ fluid was used to track evolution of glioma under first-line treatment.

Yu J et al.

Frontiers in Oncology, 2025

41179686 (PubMed )
Supplement: Table3.xls › Mutations_in_35d_TISF

SMARCA4-deficient central nervous system metastases: A case series and systematic review.

Morris M et al.

Journal of Neuropathology and Experimental Neurology, 2024

Genomic profiling of NSCLC tumors with the TruSight oncology 500 assay provides broad coverage of clinically actionable genomic alterations and detection of known and novel associations between genomic alterations, TMB, and PD-L1.

Wallen ZD et al.

Frontiers in Oncology, 2024

39664186 (PubMed )
Supplement: Table2.xlsx › Supplementary_Table_2

Digging into the NGS Information from a Large-Scale South European Population with Metastatic/Unresectable Pancreatic Ductal Adenocarcinoma: A Real-World Genomic Depiction.

Ziogas DC et al.

Cancers, 2023

38201431 (PubMed )
Supplement: cancers-16-00002-s001.zip › Supplementary_Tables.pdf

Circulating Tumor DNA Analysis on Metastatic Prostate Cancer with Disease Progression.

Bang S et al.

Cancers, 2023

37568814 (PubMed )
Supplement: cancers-15-03998-s001.zip › Supplementary_Table_S1_Patient_demographics.xlsx › Sheet1

Integrated analysis of genomic and transcriptomic data for the discovery of splice-associated variants in cancer.

Cotto KC et al.

Nature Communications, 2023

36949070 (PubMed )
Supplement: 41467_2023_37266_MOESM8_ESM.xlsx › supplemental_file_6

Molecular profiling of solid tumors by next-generation sequencing: an experience from a clinical laboratory.

Bhai P et al.

Frontiers in Oncology, 2023

37483495 (PubMed )
Supplement: Table_6.xlsx › Comprehensive_panel

Tracking tumor evolution during the first-line treatment in brain glioma via serial profiling of cell-free tumor DNA from tumor in situ fluid.

Sheng Z et al.

Frontiers in Oncology, 2023

37920153 (PubMed )
Supplement: Table_1.xlsx › Table_S4.__Targetable_variants

Molecular Analysis of HPV-independent Primary Endometrial Squamous Cell Carcinoma Reveals TP53 and CDKN2A Comutations : A Clinicopathologic Analysis With Re-evaluation of Diagnostic Criteria.

Hopkins MR et al.

The American Journal of Surgical Pathology, 2022

Analysis of Mutational Profile of Hypopharyngeal and Laryngeal Head and Neck Squamous Cell Carcinomas Identifies KMT2C as a Potential Tumor Suppressor.

Machnicki MM et al.

Frontiers in Oncology, 2022

35664801 (PubMed )
Supplement: Table_3.xlsx › S3.4-FaDu_mutation_summary

The LOVD3 platform: efficient genome-wide sharing of genetic variants.

Fokkema IFAC et al.

European Journal of Human Genetics : Ejhg, 2021

34521998 (PubMed )
Supplement: 41431_2021_959_MOESM4_ESM.pdf

Mutation profile and immunoscore signature in thymic carcinomas: An exploratory study and review of the literature.

Asselta R et al.

Thoracic Cancer, 2021

33704917 (PubMed )
Supplement: TCA-12-1271-s003.xls › Foglio1

Genotyping and Characterization of HPV Status, Hypoxia, and Radiosensitivity in 22 Head and Neck Cancer Cell Lines.

Göttgens EL et al.

Cancers, 2021

33802339 (PubMed )
Supplement: cancers-13-01069-s001.pdf

Longitudinal detection of somatic mutations in saliva and plasma for the surveillance of oral squamous cell carcinomas.

Cui Y et al.

Plos One, 2021

34478472 (PubMed )
Supplement: pone.0256979.s005.xlsx › Sheet1

Genomic Landscape in Neoplasm-Like Stroma Reveals Distinct Prognostic Subtypes of Pancreatic Ductal Adenocarcinoma.

Jiang J et al.

Frontiers in Oncology, 2021

34733795 (PubMed )
Supplement: Table_1.xlsx › Sheet1

Exome sequencing identifies somatic mutations in novel driver genes in non-small cell lung cancer.

Zhang M et al.

Aging, 2020

32629428 (PubMed )
Supplement: aging-12-103500-s002..xlsx › Sheet1

Identification of Circulating Genomic and Metabolic Biomarkers in Intrahepatic Cholangiocarcinoma.

Winter H et al.

Cancers, 2019

31795195 (PubMed )
Supplement: cancers-11-01895-s001.zip › ICC_ctDNA_Cancers_Supplementary_Table_5._50_cancer_gene_panel_information.xlsx › cms_106003

Resectable lung lesions malignancy assessment and cancer detection by ultra-deep sequencing of targeted gene mutations in plasma cell-free DNA.

Peng M et al.

Journal of Medical Genetics, 2019

30981987 (PubMed )
Supplement: jmedgenet-2018-105825supp001.xlsx › Table_S3

Analytical Validation of a Hybrid Capture-Based Next-Generation Sequencing Clinical Assay for Genomic Profiling of Cell-Free Circulating Tumor DNA.

Clark TA et al.

The Journal of Molecular Diagnostics : Jmd, 2018

29936259 (PubMed )
Supplement: mmc12.xlsx › Table_S12

Drug-Sensitivity Screening and Genomic Characterization of 45 HPV-Negative Head and Neck Carcinoma Cell Lines for Novel Biomarkers of Drug Efficacy.

Lepikhova T et al.

Molecular Cancer Therapeutics, 2018

29970484 (PubMed )
Supplement: 15357163mct170733-sup-187271_3_supp_4755361_p8plbf.xlsx › Table_S5

Whole genome and whole transcriptome genomic profiling of a metastatic eccrine porocarcinoma.

Thibodeau ML et al.

Npj Precision Oncology, 2018

Analysis of 100,000 human cancer genomes reveals the landscape of tumor mutational burden.

Chalmers ZR et al.

Genome Medicine, 2017

28420421 (PubMed )
Supplement: 13073_2017_424_MOESM7_ESM.xlsx › Sheet1

A variant by any name: quantifying annotation discordance across tools and clinical databases.

Yen JL et al.

Genome Medicine, 2017

28122645 (PubMed )
Supplement: 13073_2016_396_MOESM1_ESM.xlsx › Table_S1

Integration of genomics and histology revises diagnosis and enables effective therapy of refractory cancer of unknown primary with PDL1 amplification.

Gröschel S et al.

Cold Spring Harbor Molecular Case Studies, 2016

27900363 (PubMed )
Supplement: supp_mcs.a001180_SuppTabS1.xls › snvs

Recurrent PTPRB and PLCG1 mutations in angiosarcoma.

Behjati S et al.

Nature Genetics, 2014

24633157 (PubMed )
Supplement: NIHMS57096-supplement-2.xlsx › Suppl_Table_1

Frequent mutations in TP53 and CDKN2A found by next-generation sequencing of head and neck cancer cell lines.

Nichols AC et al.

Archives of Otolaryngology--head & Neck Surgery, 2012

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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."