Varaico: Literature-Extracted Genetic Variants

Gene:CDKN2A
Variant:p.Q50*
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CDKN2A

NM_000077.5:p.Q50*

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_S8

Genetic evolution of keratinocytes to cutaneous squamous cell carcinoma.

Tandukar B et al.

Nature Communications, 2025

41309580 (PubMed )
Supplement: 41467_2025_65687_MOESM1_ESM.pdf

Genomic landscape of hormone therapy-resistant HR-positive, HER2-negative breast cancer.

Chaubal R et al.

Breast Cancer Research and Treatment, 2025

40652157 (PubMed )
Supplement: 10549_2025_7759_MOESM5_ESM.xlsx › stable9

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

A Phase III Randomized Trial of Integrated Genomics and Avatar Models for Personalized Treatment of Pancreatic Cancer: The AVATAR Trial.

Sarno F et al.

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

39540844 (PubMed )
Supplement: ccr-23-4026_supplementary_table_s3_suppts3.xlsx › Table

Genetic evolution of keratinocytes to cutaneous squamous cell carcinoma.

Tandukar B et al.

Biorxiv : the Preprint Server for Biology, 2024

39091884 (PubMed )
Supplement: media-6.xlsx › Data_Points

Whole-Genome DNA Methylation Profiling of Intrahepatic Cholangiocarcinoma Reveals Prognostic Subtypes with Distinct Biological Drivers.

Liao H et al.

Cancer Research, 2024

38471085 (PubMed )
Supplement: can-23-3298_supplementary_tables_suppst1-11.xlsx › Supplementary_Table_S8

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

Understanding the Genetic Landscape of Pancreatic Ductal Adenocarcinoma to Support Personalized Medicine: A Systematic Review.

Pantaleo A et al.

Cancers, 2023

38201484 (PubMed )
Supplement: cancers-16-00056-s001.zip › Table_S3_Proof_final_version.xlsx › CDKN2A

TP53 missense mutation reveals gain-of-function properties in small-sized KRAS transformed pancreatic ductal adenocarcinoma.

Zhou Y et al.

Journal of Translational Medicine, 2023

38037073 (PubMed )
Supplement: 12967_2023_4742_MOESM1_ESM.xlsx › Sheet1

Standing in the canine precision medicine knowledge gap: Improving annotation of canine cancer genomic biomarkers through systematic comparative analysis of human cancer mutations in COSMIC.

Sakthikumar S et al.

Veterinary and Comparative Oncology, 2023

37248814 (PubMed )
Supplement: supplement_1.xlsx › Supp._Table_5

Dynamic ctDNA Mutational Complexity in Patients with Melanoma Receiving Immunotherapy.

Fitzgerald S et al.

Molecular Diagnosis & Therapy, 2023

37099071 (PubMed )
Supplement: 40291_2023_651_MOESM1_ESM.xlsx › Suppl._Table_2

Clinical Features Associated with Outcomes and Biomarker Analysis of Dabrafenib plus Trametinib Treatment in Patients with BRAF-Mutant Melanoma Brain Metastases.

Wilmott JS et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2023

Rare presentations can suggest more than one rare condition: Striking personal and family cancer history in a patient with both CDKN2A and BRCA1 pathogenic variants.

Trupiano N et al.

Jaad Case Reports, 2023

CDK4 phosphorylation status and rational use for combining CDK4/6 and BRAF/MEK inhibition in advanced thyroid carcinomas.

Pita JM et al.

Frontiers in Endocrinology, 2023

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

Base editing sensor libraries for high-throughput engineering and functional analysis of cancer-associated single nucleotide variants.

Sánchez-Rivera FJ et al.

Nature Biotechnology, 2022

35165384 (PubMed )
Supplement: NIHMS1760571-supplement-Supplementary_Table_S2.xlsx › Table_S2D

Clinically actionable cancer somatic variants (CACSV): a tumor interpreted dataset for analytical workflows.

Sobahy TM et al.

Bmc Medical Genomics, 2022

35468810 (PubMed )
Supplement: 12920_2022_1235_MOESM3_ESM.xlsx › OncoKB_unspecified-alterations.

Genomic Progression of Precancerous Actinic Keratosis to Squamous Cell Carcinoma.

Kim YS et al.

The Journal of Investigative Dermatology, 2022

The clinical significance of adenomatous polyposis coli (APC) and catenin Beta 1 (CTNNB1) genetic aberrations in patients with melanoma.

Karachaliou GS et al.

Bmc Cancer, 2022

34986841 (PubMed )
Supplement: 12885_2021_8908_MOESM2_ESM.xlsx › APC_CTNNB1_wild_type

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

Identification of Molecular Alterations Challenging Initial Pathologic Classification in Cases of Clinician-Initiated Next-Generation Sequencing Testing.

Cho JH et al.

American Journal of Clinical Pathology, 2021

Clinical Validation of Whole Genome Sequencing for Cancer Diagnostics.

Roepman P et al.

The Journal of Molecular Diagnostics : Jmd, 2021

CDKN2A germline alterations and the relevance of genotype-phenotype associations in cancer predisposition.

Chan SH et al.

Hereditary Cancer in Clinical Practice, 2021

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

Personalized cancer therapy prioritization based on driver alteration co-occurrence patterns.

Mateo L et al.

Genome Medicine, 2020

32907621 (PubMed )
Supplement: 13073_2020_774_MOESM1_ESM.zip › SupplementaryTables › TableS2.xlsx › Driver_Mutations

Design and Testing of a Custom Melanoma Next Generation Sequencing Panel for Analysis of Circulating Tumor DNA.

Diefenbach RJ et al.

Cancers, 2020

32785074 (PubMed )
Supplement: cancers-12-02228-s001.zip › TableS6SummaryPatientNGS.xlsx › Sample_75

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

ctDNA detected by ddPCR reveals changes in tumour load in metastatic malignant melanoma treated with bevacizumab.

Forthun RB et al.

Scientific Reports, 2019

31767937 (PubMed )
Supplement: 41598_2019_53917_MOESM2_ESM.xlsx › Supplementary_Table_1

Identification of predictors of drug sensitivity using patient-derived models of esophageal squamous cell carcinoma.

Su D et al.

Nature Communications, 2019

31700061 (PubMed )
Supplement: 41467_2019_12846_MOESM6_ESM.xlsx › Sheet1

High Proportion of Potential Candidates for Immunotherapy in a Chilean Cohort of Gastric Cancer Patients: Results of the FORCE1 Study.

Cordova-Delgado M et al.

Cancers, 2019

31480291 (PubMed )
Supplement: cancers-11-01275-s001.zip › Supplementary_Tables_and_Figures.pdf

Whole-genome landscape of mucosal melanoma reveals diverse drivers and therapeutic targets.

Newell F et al.

Nature Communications, 2019

31320640 (PubMed )
Supplement: 41467_2019_11107_MOESM9_ESM.xlsx › Table_S6_Actionable

A Three-dimensional Ex Vivo Viability Assay Reveals a Strong Correlation Between Response to Targeted Inhibitors and Mutation Status in Melanoma Lymph Node Metastases.

Flørenes VA et al.

Translational Oncology, 2019

31096111 (PubMed )
Supplement: mmc1.xlsx › Blad1

Recurrent SMARCB1 Inactivation in Epithelioid Malignant Peripheral Nerve Sheath Tumors.

Schaefer IM et al.

The American Journal of Surgical Pathology, 2019

Effects of ANRIL variants on the risk of ischemic stroke: a meta-analysis.

Tan C et al.

Bioscience Reports, 2019

Profound MEK inhibitor response in a cutaneous melanoma harboring a GOLGA4-RAF1 fusion.

McEvoy CR et al.

The Journal of Clinical Investigation, 2019

Protective autophagy elicited by RAF→MEK→ERK inhibition suggests a treatment strategy for RAS-driven cancers.

Kinsey CG et al.

Nature Medicine, 2019

Germline Variants and Risk for Pancreatic Cancer: A Systematic Review and Emerging Concepts.

Zhan W et al.

Pancreas, 2018

Circulating Tumor DNA Analysis and Functional Imaging Provide Complementary Approaches for Comprehensive Disease Monitoring in Metastatic Melanoma.

Wong SQ et al.

Jco Precision Oncology, 2017

Oncogene and therapeutic target analyses in atypical fibroxanthomas and pleomorphic dermal sarcomas.

Helbig D et al.

Oncotarget, 2016

Multiple primary melanomas (MPMs) and criteria for genetic assessment: MultiMEL, a multicenter study of the Italian Melanoma Intergroup.

Bruno W et al.

Journal of the American Academy of Dermatology, 2016

Germline hemizygous deletion of CDKN2A-CDKN2B locus in a patient presenting with Li-Fraumeni syndrome.

Chan SH et al.

Npj Genomic Medicine, 2016

29263814 (PubMed )
Supplement: npjgenmed201615-s1.doc

Genomic landscape of salivary gland tumors.

Kato S et al.

Oncotarget, 2015

26247885 (PubMed )
Supplement: oncotarget-06-25631-s002.xlsx › Sheet1

BRCA1, BRCA2, PALB2, and CDKN2A mutations in familial pancreatic cancer: a PACGENE study.

Zhen DB et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2015

Genetic predisposition to pancreatic cancer.

Ghiorzo P

World Journal of Gastroenterology, 2014

AXIN2 polymorphism and its association with prostate cancer in a Turkish population.

Pinarbasi E et al.

Medical Oncology (northwood, London, England), 2011

Clinical and genetic analysis of 18 pancreatic carcinoma/melanoma-prone families.

Bartsch DK et al.

Clinical Genetics, 2010

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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."