Varaico: Literature-Extracted Genetic Variants

Gene:CDKN2A
Variant:p.L16_A17delFs
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CDKN2A

NM_000077.5:p.L16_A17delFs

Associated Papers

Paired tumor-normal sequencing provides insights into the CDKN2A-associated tumor spectrum.

Breen KE et al.

Npj Precision Oncology, 2025

41258420 (PubMed )
Supplement: 41698_2025_1155_MOESM2_ESM.xlsx › Table_S4-Somatic_Variants

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

40649709 (PubMed )
Supplement: ijms-26-05930-s001.zip › Supplementary_Table_2_and_Figure_S1.xlsx › Table_S3

Mutational profiling using liquid biopsy to guide targeted therapy in patients with metastatic cancer.

Mazouji O et al.

Scientific Reports, 2025

40169620 (PubMed )
Supplement: 41598_2025_88094_MOESM1_ESM.xlsx › Feuil1

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_relapse_TISF

Genomic alterations in two patients with esophageal carcinosarcoma identified by whole genome sequencing: a case report.

Inoue M et al.

Surgical Case Reports, 2024

39158654 (PubMed )
Supplement: 40792_2024_1978_MOESM1_ESM.xlsx › Supplementary_Table1

Chemotherapy-free treatment targeting fusions and driver mutations in KRAS wild-type pancreatic ductal adenocarcinoma, a case series.

Mehdi M et al.

Therapeutic Advances in Medical Oncology, 2024

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

Comprehensive clinicopathological and genomic profiling of gallbladder cancer reveals actionable targets in half of patients.

de Bitter TJJ et al.

Npj Precision Oncology, 2022

36335173 (PubMed )
Supplement: 41698_2022_327_MOESM2_ESM.xlsx › Supplementary_Data_3

IDH-wild type glioblastomas featuring at least 30% giant cells are characterized by frequent RB1 and NF1 alterations and hypermutation.

Barresi V et al.

Acta Neuropathologica Communications, 2021

34952640 (PubMed )
Supplement: 40478_2021_1304_MOESM3_ESM.xlsx › Supplementary_Table_2

Genomic Alterations in Human Papillomavirus-Positive and -Negative Conjunctival Squamous Cell Carcinomas.

Ramberg I et al.

Investigative Ophthalmology & Visual Science, 2021

34779821 (PubMed )
Supplement: iovs-62-14-11_s001.pdf

CDKN2A loss-of-function predicts immunotherapy resistance in non-small cell lung cancer.

Gutiontov SI et al.

Scientific Reports, 2021

34625620 (PubMed )
Supplement: 41598_2021_99524_MOESM2_ESM.xlsx › Mutations

Using Exome Sequencing to Improve Prediction of FOLFIRINOX First Efficacy for Pancreatic Adenocarcinoma.

Lecuelle J et al.

Cancers, 2021

33924443 (PubMed )
Supplement: cancers-13-01851-s001.zip › Supplementary_files › Supplementary_Table_1.pdf

A genetically defined signature of responsiveness to erlotinib in early-stage pancreatic cancer patients: Results from the CONKO-005 trial.

Hoyer K et al.

Ebiomedicine, 2021

33862582 (PubMed )
Supplement: mmc3.xlsx › S5

Genetic aberrations in Chinese pancreatic cancer patients and their association with anatomic location and disease outcomes.

Lu J et al.

Cancer Medicine, 2021

33350171 (PubMed )
Supplement: CAM4-10-933-s001.xlsx › SNV

Interpreting Sequence Variation in PDAC-Predisposing Genes Using a Multi-Tier Annotation Approach Performed at the Gene, Patient, and Cohort Level.

Zimmermann MT et al.

Frontiers in Oncology, 2021

33747920 (PubMed )
Supplement: DataSheet_2.xlsx › Table_S5

A scalable high-throughput targeted next-generation sequencing assay for comprehensive genomic profiling of solid tumors.

Conroy JM et al.

Plos One, 2021

34855780 (PubMed )
Supplement: pone.0260089.s001.xlsx › ST12

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_2.xlsx › Sheet1

Next-Generation Sequencing at High Sequencing Depth as a Tool to Study the Evolution of Metastasis Driven by Genetic Change Events of Lung Squamous Cell Carcinoma.

Mansour H et al.

Frontiers in Oncology, 2020

Recurrent PTPRT/JAK2 mutations in lung adenocarcinoma among African Americans.

Mitchell KA et al.

Nature Communications, 2019

31844068 (PubMed )
Supplement: 41467_2019_13732_MOESM12_ESM.xlsx › Sheet1

Development of a high risk pancreatic screening clinic using 3.0 T MRI.

Barnes CA et al.

Familial Cancer, 2018

Molecular characterization of melanoma cases in Denmark suspected of genetic predisposition.

Wadt KA et al.

Plos One, 2015

Mutational analysis of CDKN2A gene in a group of 390 larynx cancer patients.

Kiwerska K et al.

Molecular Biology Reports, 2010

Frequent p16-independent inactivation of p14ARF in human melanoma.

Freedberg DE et al.

Journal of the National Cancer Institute, 2008

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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."