Varaico: Literature-Extracted Genetic Variants

Gene:CDKN2A
Variant:p.Y129*
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CDKN2A

NM_000077.5:p.Y129*

Associated Papers

Leveraging genomic diagnostics for prognostics and therapeutics in pediatric acute leukemia.

Newman H et al.

Hemasphere, 2025

41306327 (PubMed )
Supplement: HEM3-9-e70269-s013.xlsx › Supplemental_Table_5_-_SSVs

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

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

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

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

Identification of potentially actionable genetic variants in epithelial ovarian cancer: a retrospective cohort study.

Fieuws C et al.

Npj Precision Oncology, 2024

38519644 (PubMed )
Supplement: 41698_2024_565_MOESM1_ESM.pdf

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

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

TP53 mutations identify high-risk events for peripheral T-cell lymphoma treated with CHOP-based chemotherapy.

Johnson WT et al.

Blood Advances, 2023

37078708 (PubMed )
Supplement: BLOODA_ADV-2023-009953-mmc1.xlsx › S1B_PTCL-NOS_mutations_

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

RBFOX2 modulates a metastatic signature of alternative splicing in pancreatic cancer.

Jbara A et al.

Nature, 2023

36949200 (PubMed )
Supplement: NIHMS1897967-supplement-1897967_Supp_table_1.xlsx › clin_data_PDA_Patients

Adult Low-Hypodiploid Acute Lymphoblastic Leukemia Emerges from Preleukemic TP53-Mutant Clonal Hematopoiesis.

Kim R et al.

Blood Cancer Discovery, 2023

36630200 (PubMed )
Supplement: bcd-22-0154_supplementary_tables_s1-s11_suppst1-st11.xlsx › TableS2

Integrative genomic analysis of childhood acute lymphoblastic leukaemia lacking a genetic biomarker in the UKALL2003 clinical trial.

Schwab C et al.

Leukemia, 2023

36550215 (PubMed )
Supplement: 41375_2022_1799_MOESM1_ESM.pdf

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

Molecular landscape and therapeutic alterations in Asian soft-tissue sarcoma patients.

Gan M et al.

Cancer Medicine, 2022

35586877 (PubMed )
Supplement: CAM4-11-4070-s004.xlsx › Table_S1

Diagnostic value of genetic mutation analysis and mutation profiling of cell-free DNA in intraocular fluid for vitreoretinal lymphoma.

Chen X et al.

Cancer Communications (london, England), 2022

35920016 (PubMed )
Supplement: CAC2-42-1217-s001.xlsx › Supplementary_Table_S6

Early dynamics of circulating tumor DNA predict clinical response to immune checkpoint inhibitors in metastatic renal cell carcinoma.

Koh Y et al.

International Journal of Urology : Official Journal of the Japanese Urological Association, 2022

35184335 (PubMed )
Supplement: IJU-29-462-s002.xlsx › S1

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.

Phosphoproteomic profiling of T cell acute lymphoblastic leukemia reveals targetable kinases and combination treatment strategies.

Cordo' V et al.

Nature Communications, 2022

35217681 (PubMed )
Supplement: 41467_2022_28682_MOESM4_ESM.xlsx › Supplementary_Data_1

Genomes for Kids: The Scope of Pathogenic Mutations in Pediatric Cancer Revealed by Comprehensive DNA and RNA Sequencing.

Newman S et al.

Cancer Discovery, 2021

34301788 (PubMed )
Supplement: cd-20-1631_supplementary_tables_suppst1.xlsx › S2.Somatic_Findings_Summary

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

33203919 (PubMed )
Supplement: NIHMS1641219-supplement-1.xlsx › Supplemental_Table_1

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

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 › _c__HNSC

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

Novel bioinformatic classification system for genetic signatures identification in diffuse large B-cell lymphoma.

Zhang W et al.

Bmc Cancer, 2020

32736575 (PubMed )
Supplement: 12885_2020_7198_MOESM5_ESM.xlsx › Table_S3

Comprehensive Genomic Profiling of Rare Tumors: Routes to Targeted Therapies.

Wang S et al.

Frontiers in Oncology, 2020

32373528 (PubMed )
Supplement: Table_6.xlsx › Sheet1

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

Analysis of error profiles in deep next-generation sequencing data.

Ma X et al.

Genome Biology, 2019

30867008 (PubMed )
Supplement: 13059_2019_1659_MOESM1_ESM.xlsx › S3_b

H3K27me3 deficiency defines a subset of dedifferentiated chondrosarcomas with characteristic clinicopathological features.

Makise N et al.

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

Tumor-derived DNA from pleural effusion supernatant as a promising alternative to tumor tissue in genomic profiling of advanced lung cancer.

Tong L et al.

Theranostics, 2019

31534501 (PubMed )
Supplement: thnov09p5532s1.pdf

Heterogeneous responses and resistant mechanisms to crizotinib in ALK-positive advanced non-small cell lung cancer.

Kang J et al.

Thoracic Cancer, 2018

29978950 (PubMed )
Supplement: TCA-9-1093-s006.xlsx › Sheet1

Pancreatic intraductal tubulopapillary neoplasm is genetically distinct from intraductal papillary mucinous neoplasm and ductal adenocarcinoma.

Basturk O et al.

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

Profiling cancer-related gene mutations in oral squamous cell carcinoma from Japanese patients by targeted amplicon sequencing.

Nakagaki T et al.

Oncotarget, 2017

28938622 (PubMed )
Supplement: oncotarget-08-59113-s008.xlsx › Table_S7

Paclitaxel is necessary for improved survival in epithelial ovarian cancers with homologous recombination gene mutations.

Jean S et al.

Oncotarget, 2016

27191893 (PubMed )
Supplement: oncotarget-07-48577-s002.xlsx › Sheet1

Circulating Cell-Free Tumor DNA Analysis of 50 Genes by Next-Generation Sequencing in the Prospective MOSCATO Trial.

Jovelet C et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2016

26758560 (PubMed )
Supplement: 10780432ccr152470-sup-156650_1_supp_3254814_ny79rd.xlsx › AF_T-P

Cross-cancer profiling of molecular alterations within the human autophagy interaction network.

Lebovitz CB et al.

Autophagy, 2015

26208877 (PubMed )
Supplement: kaup-11-09-1067362-s001.zip › 1067362_supplemental_files › 2014AUTO0485R1-s03.xlsx › HNSC-mutations

Somatic mutations in exocrine pancreatic tumors: association with patient survival.

Rachakonda PS et al.

Plos One, 2013

Five novel somatic CDKN2/p16 mutations identified in melanoma, glioma and carcinoma of the pancreas. Mutations in brief no. 170. Online.

Gretarsdóttir S et al.

Human Mutation, 1998

Patient-derived glioblastoma organoids reflect tumor heterogeneity and treatment sensitivity.

Verduin M et al.

Neuro-oncology Advances, 0

38130902 (PubMed )
Supplement: vdad152_suppl_supplementary_materials_4.xlsx › Heatmap
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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."