Varaico: Literature-Extracted Genetic Variants

Gene:CDKN2A
Variant:p.E61*
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CDKN2A

NM_000077.5:p.E61*

Associated Papers

Genomic Profiling of Cardiac Angiosarcoma Reveals Novel Targetable KDR Variants, Recurrent MED12 Mutations, and a High Burden of Germline POT1 Alterations.

Odintsov I et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2025

39820259 (PubMed )
Supplement: ccr-24-3277_supplementary_table_s1_suppts1.xlsx › SNV_INDEL

Clinicogenomic landscape of pancreatic adenocarcinoma identifies KRAS mutant dosage as prognostic of overall survival.

Varghese AM et al.

Nature Medicine, 2025

39753968 (PubMed )
Supplement: 41591_2024_3362_MOESM2_ESM.xlsx › SupplementaryTable2_IMPACT_Alts

PIK3CA Mutations and Co-Mutations in Operated Non-Small Cell Lung Carcinoma.

Cokpinar S et al.

Journal of Clinical Medicine, 2024

39685930 (PubMed )
Supplement: jcm-13-07472-s001.zip › jcm-3207376-supplementary.pdf

miR-876-3p is a tumor suppressor on 9p21 that is inactivated in melanoma and targets ERK.

Bezrookove V et al.

Journal of Translational Medicine, 2024

Targeted DNA Sequencing of Cutaneous Melanoma Identifies Prognostic and Predictive Alterations.

Haugh AM et al.

Cancers, 2024

38611025 (PubMed )
Supplement: cancers-16-01347-s001.zip › cancers-2874995-supplementary.xlsx › TableS1

Case Report: Dostarlimab for treatment of aggressive cutaneous squamous cell carcinoma.

Gandarillas S et al.

Frontiers in Medicine, 2024

Enhancing oral squamous cell carcinoma prediction: the prognostic power of the worst pattern of invasion and the limited impact of molecular resection margins.

Hurník P et al.

Frontiers in Oncology, 2023

38188288 (PubMed )
Supplement: Table_5.xlsx › S5

NOTCH1 mutation associates with impaired immune response and decreased relapse-free survival in patients with resected T1-2N0 laryngeal cancer.

Gong XY et al.

Frontiers in Immunology, 2022

35911687 (PubMed )
Supplement: DataSheet_1.zip › onco500_qc_pass_20211125-42.xlsx › somatic

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

Validation of a liquid biopsy assay with molecular and clinical profiling of circulating tumor DNA.

Finkle JD et al.

Npj Precision Oncology, 2021

34215841 (PubMed )
Supplement: 41698_2021_202_MOESM1_ESM.pdf

Clinical Validation of Whole Genome Sequencing for Cancer Diagnostics.

Roepman P et al.

The Journal of Molecular Diagnostics : Jmd, 2021

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

Predictive Biomarkers for Immune Checkpoint Inhibitors in Metastatic Breast Cancer.

Sivapiragasam A et al.

Cancer Medicine, 2021

33314633 (PubMed )
Supplement: CAM4-10-53-s004.xlsx › Sheet1

Plasma Circulating Tumor DNA Sequencing Predicts Minimal Residual Disease in Resectable Esophageal Squamous Cell Carcinoma.

Liu T et al.

Frontiers in Oncology, 2021

34094900 (PubMed )
Supplement: DataSheet_1.xlsx › Table_S3

Genomic Landscape of Head and Neck Squamous Cell Carcinoma Across Different Anatomic Sites in Chinese Population.

Ju Y et al.

Frontiers in Genetics, 2021

34194478 (PubMed )
Supplement: Data_Sheet_1.xlsx › Table_S6

Proteogenomics Reveals Perturbed Signaling Networks in Malignant Melanoma Cells Resistant to BRAF Inhibition.

Schmitt M et al.

Molecular & Cellular Proteomics : Mcp, 2021

Loss of Both CDKN2A and CDKN2B Allows for Centrosome Overduplication in Melanoma.

Patel S et al.

The Journal of Investigative Dermatology, 2020

Targeted next-generation sequencing of matched localized and metastatic primary high-risk SCCs identifies driver and co-occurring mutations and novel therapeutic targets.

Lobl MB et al.

Journal of Dermatological Science, 2020

Dissecting Mechanisms of Melanoma Resistance to BRAF and MEK Inhibitors Revealed Genetic and Non-Genetic Patient- and Drug-Specific Alterations and Remarkable Phenotypic Plasticity.

Hartman ML et al.

Cells, 2020

31936151 (PubMed )
Supplement: cells-09-00142-s001.pdf

Analytical Evaluation of an NGS Testing Method for Routine Molecular Diagnostics on Melanoma Formalin-Fixed, Paraffin-Embedded Tumor-Derived DNA.

Mancini I et al.

Diagnostics (basel, Switzerland), 2019

Combining ERBB family and MET inhibitors is an effective therapeutic strategy in cutaneous malignant melanoma independent of BRAF/NRAS mutation status.

Das I et al.

Cell Death & Disease, 2019

31506424 (PubMed )
Supplement: 41419_2019_1875_MOESM2_ESM.pdf

Mutational Analysis of 472 Urothelial Carcinoma Across Grades and Anatomic Sites.

Nassar AH et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2019

30593515 (PubMed )
Supplement: 10780432ccr183147-sup-209386_2_supp_5192871_ptz639.xlsx › S1.3_Raw_SNV_and_small_indels

A targeted genomic alteration analysis predicts survival of melanoma patients under BRAF inhibitors.

Louveau B et al.

Oncotarget, 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

Targeted next-generation sequencing reveals recurrence-associated genomic alterations in early-stage non-small cell lung cancer.

Cho WCS et al.

Oncotarget, 2018

Cancer gene profiling in non-small cell lung cancers reveals activating mutations in JAK2 and JAK3 with therapeutic implications.

Li SD et al.

Genome Medicine, 2017

29082853 (PubMed )
Supplement: 13073_2017_478_MOESM1_ESM.xlsx › Table_S2

APOBEC3A is an oral cancer prognostic biomarker in Taiwanese carriers of an APOBEC deletion polymorphism.

Chen TW et al.

Nature Communications, 2017

28878238 (PubMed )
Supplement: 41467_2017_493_MOESM5_ESM.xlsx › CCP_MAF_TS6

Ultra-deep targeted sequencing of advanced oral squamous cell carcinoma identifies a mutation-based prognostic gene signature.

Chen SJ et al.

Oncotarget, 2015

25980437 (PubMed )
Supplement: oncotarget-06-18066-s004.xlsx › Sheet1

Mutational Status of CDKN2A and TP53 Genes in Laryngeal Squamous Cell Carcinoma.

Todorova TA et al.

Pathology Oncology Research : Por, 2015

Beyond BRAF(V600): clinical mutation panel testing by next-generation sequencing in advanced melanoma.

Siroy AE et al.

The Journal of Investigative Dermatology, 2015

25148578 (PubMed )
Supplement: NIHMS622327-supplement-supplement_1.pdf

Intratumoral heterogeneity in a minority of ovarian low-grade serous carcinomas.

Tone AA et al.

Bmc Cancer, 2014

25523272 (PubMed )
Supplement: 12885_2014_5198_MOESM14_ESM.xlsx › Sheet1__2_

Differential mechanisms of CDKN2A (p16) alteration in oral tongue squamous cell carcinomas and correlation with patient outcome.

Lim AM et al.

International Journal of Cancer, 2014

p16 mutation spectrum in the premalignant condition Barrett's esophagus.

Paulson TG et al.

Plos One, 2008

Recurrent patterns of dual RB and p53 pathway inactivation in melanoma.

Yang G et al.

The Journal of Investigative Dermatology, 2005

The CDKN2A (p16) gene and human cancer.

Foulkes WD et al.

Molecular Medicine (cambridge, Mass.), 1997

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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."