Varaico: Literature-Extracted Genetic Variants

Gene:CDKN2A
Variant:p.Y44fs
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CDKN2A

NM_000077.5:p.Y44fs

Associated Papers

17.6% of patients in a German cohort with exocrine pancreatic cancer were diagnosed with a genetic tumor syndrome-a case for universal genetic testing?

William D et al.

Esmo Gastrointestinal Oncology, 2025

41647972 (PubMed )
Supplement: mmc1.xlsx › Suppl._Table_1

A neomorphic protein interface catalyzes covalent inhibition of RASG12D aspartic acid in tumors.

Weller C et al.

Science (new York, N.y.), 2025

40705880 (PubMed )
Supplement: science.ads0239_data_s1_to_s6.zip › science.ads0239_data_s4.xlsx › Sheet1

A Pilot Study: Contrasting Genomic Profiles of Lung Adenocarcinoma Between Patients of European and Latin American Ancestry.

Rueda-Zarazua B et al.

International Journal of Molecular Sciences, 2025

40430005 (PubMed )
Supplement: ijms-26-04865-s001.zip › ijms-3565226-supplementary › Table_S1.pdf

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

Comprehensive molecular analysis of 26 newly established human pancreatic ductal adenocarcinoma cell lines reveals two clusters with variating drug sensitivities.

Maeng JE et al.

Cancer Cell International, 2025

39972450 (PubMed )
Supplement: 12935_2025_3671_MOESM10_ESM.xlsx › Table_S2A.

Utilizing Patient-Derived Xenografts to Model Precision Oncology for Biliary Tract Cancer.

DiPeri TP et al.

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

39513959 (PubMed )
Supplement: ccr-24-1233_supplementary_tables_1_-_8_suppts1.xlsx › Table_S3

The molecular tumor board as a step in cancer patient management: a southern Italian experience.

Tommasi S et al.

Frontiers in Medicine, 2024

39323465 (PubMed )
Supplement: Table_1.xlsx › Foglio1

Compliance with the Current NCCN Guidelines and Its Critical Role in Pancreatic Adenocarcinoma.

Petersen JM et al.

Laboratory Medicine, 2023

A Comparative Study of Patient-Derived Tumor Models of Pancreatic Ductal Adenocarcinoma Involving Orthotopic Implantation.

Yanagihara K et al.

Pathobiology : Journal of Immunopathology, Molecular and Cellular Biology, 2022

Integrative analysis reveals clinically relevant molecular fingerprints in pancreatic cancer.

Song L et al.

Molecular Therapy. Nucleic Acids, 2021

34513290 (PubMed )
Supplement: mmc3.xlsx › Table_S3

TP53 mutations and CDKN2A mutations/deletions are highly recurrent molecular alterations in the malignant progression of sinonasal papillomas.

Brown NA et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2021

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

Clinical benefit for clinical sequencing using cancer panel testing.

Nishimura S et al.

Plos One, 2021

33635883 (PubMed )
Supplement: pone.0247090.s006.xlsx › Supplemental_table_S5

Genomic profiling reveals high frequency of DNA repair genetic aberrations in gallbladder cancer.

Abdel-Wahab R et al.

Scientific Reports, 2020

33328484 (PubMed )
Supplement: 41598_2020_77939_MOESM1_ESM.xlsx › Sheet1

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-S2-Organoid-response.xlsx › ___1

Genetic features and application value of next generation sequencing in the diagnosis of synchronous multifocal lung adenocarcinoma.

Chen X et al.

Oncology Letters, 2020

Interrogating Mutant Allele Expression via Customized Reference Genomes to Define Influential Cancer Mutations.

Grant AD et al.

Scientific Reports, 2019

31484939 (PubMed )
Supplement: 41598_2019_48967_MOESM2_ESM.xls › Supplementary_Variant_File

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

Next-generation sequencing in patients with advanced cancer: are we ready for widespread clinical use? A single institute's experience.

Grenader T et al.

Anti-cancer Drugs, 2016

Unique molecular signatures as a hallmark of patients with metastatic breast cancer: implications for current treatment paradigms.

Wheler JJ et al.

Oncotarget, 2014

24811890 (PubMed )
Supplement: oncotarget-05-2349-s001.pdf

Exome and whole-genome sequencing of esophageal adenocarcinoma identifies recurrent driver events and mutational complexity.

Dulak AM et al.

Nature Genetics, 2013

23525077 (PubMed )
Supplement: NIHMS474888-supplement-1.pdf

Comprehensive genomic characterization of squamous cell lung cancers.

Unknown Author

Nature, 2012

22960745 (PubMed )
Supplement: NIHMS392594-supplement-2.zip › data.file.S7.1.p16.alterations.xlsx › Sheet1
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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."