Varaico: Literature-Extracted Genetic Variants

Gene:CDKN2A
Variant:p.E69*
Back to variants list

CDKN2A

NM_000077.5:p.E69*

Associated Papers

A base editing platform for the correction of cancer driver mutations unmasks conserved p53 transcription programs.

Wang P et al.

Genome Biology, 2025

40696461 (PubMed )
Supplement: 13059_2025_3667_MOESM1_ESM.xlsx › Overlap_between_lines

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

Decoding the molecular landscape: HER2 and PD-L1 in advanced gastric cancer.

Yao J et al.

Frontiers in Immunology, 2025

40519936 (PubMed )
Supplement: Table1.xlsx › SNV

The mutational landscape and actionable targets of gallbladder cancer: an ancestry-informed and comparative analysis of a Chilean population.

Erices JI et al.

Frontiers in Oncology, 2025

Implementing Massive Parallel Sequencing into Biliary Samples Obtained through Endoscopic Retrograde Cholangiopancreatography for Diagnosing Malignant Bile Duct Strictures.

Park W et al.

International Journal of Molecular Sciences, 2024

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

Genomic progression for local invasion of cutaneous squamous cell carcinoma from the superficial to the deep portion.

Hwang HW et al.

International Journal of Cancer, 2024

Genomic profiling informs therapies and prognosis for patients with hepatocellular carcinoma in clinical practice.

Song M et al.

Bmc Cancer, 2024

38825709 (PubMed )
Supplement: 12885_2024_12407_MOESM2_ESM.xlsx › Table_S3

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

Expanding Broad Molecular Reflex Testing in Non-Small Cell Lung Cancer to Squamous Histology.

Zacharias M et al.

Cancers, 2024

38473263 (PubMed )
Supplement: cancers-16-00903-s001.zip › TableS2.xlsx › Tabelle

The Utility of NGS Analysis in Homologous Recombination Deficiency Tracking.

Tsantikidi A et al.

Diagnostics (basel, Switzerland), 2023

37761329 (PubMed )
Supplement: diagnostics-13-02962-s001.zip › supplementary__Table_S2.xlsx › Table_S2_Samples_analyzed

Mutation Analysis of Pancreatic Juice and Plasma for the Detection of Pancreatic Cancer.

Levink IJM et al.

International Journal of Molecular Sciences, 2023

Targeted deep sequencing reveals genomic alterations of actinic keratosis/cutaneous squamous cell carcinoma in situ and cutaneous squamous cell carcinoma.

Kim YS et al.

Experimental Dermatology, 2023

Clear cell variant of atypical fibroxanthoma and pleomorphic dermal sarcoma: Molecular characterization and review of the literature.

Coelho-Lima J et al.

Journal of Cutaneous Pathology, 2022

NF1 loss of function as an alternative initiating event in pancreatic ductal adenocarcinoma.

Ramakrishnan G et al.

Cell Reports, 2022

36351408 (PubMed )
Supplement: NIHMS1848910-supplement-2.xlsx › NF1-TP53-pi16INK4A-Smad4

Targeting de novo lipogenesis and the Lands cycle induces ferroptosis in KRAS-mutant lung cancer.

Bartolacci C et al.

Nature Communications, 2022

35882862 (PubMed )
Supplement: 41467_2022_31963_MOESM13_ESM.xlsx › Sheet1

Deregulation of JAK2 signaling underlies primary cutaneous CD8+ aggressive epidermotropic cytotoxic T-cell lymphoma.

Bastidas Torres AN et al.

Haematologica, 2022

33792220 (PubMed )
Supplement: 2020_274506_TORRES_SUPPL.pdf

RNA-SSNV: A Reliable Somatic Single Nucleotide Variant Identification Framework for Bulk RNA-Seq Data.

Long Q et al.

Frontiers in Genetics, 2022

35846154 (PubMed )
Supplement: Table3.XLSX › LUSC_RNA_DNA_overlap

Whole genome analysis reveals the genomic complexity in metastatic cutaneous squamous cell carcinoma.

Thind AS et al.

Frontiers in Oncology, 2022

35982973 (PubMed )
Supplement: Table_4.xls › Variant_details_of_coding_drive

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

TERT gene rearrangement in chordomas and comparison to other TERT-rearranged solid tumors.

Yoon JY et al.

Cancer Genetics, 2021

Comprehensive functional evaluation of variants of fibroblast growth factor receptor genes in cancer.

Nakamura IT et al.

Npj Precision Oncology, 2021

34272467 (PubMed )
Supplement: 41698_2021_204_MOESM6_ESM.xlsx › Supplementary_Data_4

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

Circulating Tumor DNA Analyses Predict Disease Recurrence in Non-Muscle-Invasive Bladder Cancer.

Zhang J et al.

Frontiers in Oncology, 2021

33996580 (PubMed )
Supplement: Table_1.xlsx › Sheet1

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

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.s002.xlsx › TCGA-HNSC

CDKN2A-Inactivated Pancreatic Ductal Adenocarcinoma Exhibits Therapeutic Sensitivity to Paclitaxel: A Bioinformatics Study.

Lin JC et al.

Journal of Clinical Medicine, 2020

33322698 (PubMed )
Supplement: jcm-09-04019-s001.zip › jcm-1006906supple › Table-S1-TCGA-data.xlsx › _f__LUSC

Characterization of the genomic landscape and actionable mutations in Chinese breast cancers by clinical sequencing.

Lang GT et al.

Nature Communications, 2020

33173047 (PubMed )
Supplement: 41467_2020_19342_MOESM7_ESM.xlsx › PGI_fudan_NC_clnical.oc

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

Clinical and analytical validation of FoundationOne Liquid CDx, a novel 324-Gene cfDNA-based comprehensive genomic profiling assay for cancers of solid tumor origin.

Woodhouse R et al.

Plos One, 2020

32976510 (PubMed )
Supplement: pone.0237802.s009.zip › Table_9_Accuracy_Short_Variant_Line_Data.xlsx › sheet_1

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

Development and validation of a targeted gene sequencing panel for application to disparate cancers.

McCabe MJ et al.

Scientific Reports, 2019

31745186 (PubMed )
Supplement: 41598_2019_52000_MOESM2_ESM.xlsx › Sheet1

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

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

Acquired HER2 mutations in ER+ metastatic breast cancer confer resistance to estrogen receptor-directed therapies.

Nayar U et al.

Nature Genetics, 2019

Fibroblast growth factor receptor 3 (FGFR3) aberrations in muscle-invasive urothelial carcinoma.

Kim YS et al.

Bmc Urology, 2018

30064409 (PubMed )
Supplement: 12894_2018_380_MOESM1_ESM.xlsx › Supplementary_Table_1

Mutant KRAS-driven cancers depend on PTPN11/SHP2 phosphatase.

Ruess DA et al.

Nature Medicine, 2018

Toward an integrated map of genetic interactions in cancer cells.

Rauscher B et al.

Molecular Systems Biology, 2018

29467179 (PubMed )
Supplement: MSB-14-e7656-s003.xlsx › Dataset_EV2

Molecular Characterization of Urothelial Carcinoma of the Bladder and Upper Urinary Tract.

Lee JY et al.

Translational Oncology, 2018

29161613 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_1

Acquired resistance to PI3K/mTOR inhibition is associated with mitochondrial DNA mutation and glycolysis.

Koh KX et al.

Oncotarget, 2017

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

Involvement of Chromatin Remodeling Genes and the Rho GTPases RhoB and CDC42 in Ovarian Clear Cell Carcinoma.

Arildsen NS et al.

Frontiers in Oncology, 2017

Genomic profiling is predictive of response to cisplatin treatment but not to PI3K inhibition in bladder cancer patient-derived xenografts.

Wei L et al.

Oncotarget, 2016

The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine.

Garofalo A et al.

Genome Medicine, 2016

27460824 (PubMed )
Supplement: 13073_2016_333_MOESM4_ESM.xlsx › all_matched_muts.maf

Genetically-defined novel oral squamous cell carcinoma cell lines for the development of molecular therapies.

Fadlullah MZ et al.

Oncotarget, 2016

27050151 (PubMed )
Supplement: oncotarget-07-27802-s001.pdf

Genomic profiling of lung adenocarcinoma patients reveals therapeutic targets and confers clinical benefit when standard molecular testing is negative.

Lim SM et al.

Oncotarget, 2016

26992220 (PubMed )
Supplement: oncotarget-07-24172-s002.xlsx › Sheet1

Mutational profiling of brain metastasis from breast cancer: matched pair analysis of targeted sequencing between brain metastasis and primary breast cancer.

Lee JY et al.

Oncotarget, 2015

26527317 (PubMed )
Supplement: oncotarget-06-43731-s002.xlsx › Table_S1

Molecular characterization of patients with pathologic complete response or early failure after neoadjuvant chemotherapy for locally advanced breast cancer using next generation sequencing and nCounter assay.

Park K et al.

Oncotarget, 2015

26009992 (PubMed )
Supplement: oncotarget-06-24499-s002.xlsx › Supplementary_Table_1
1–50 of 63 papers
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."