Varaico: Literature-Extracted Genetic Variants

Gene:CDKN2A
Variant:p.A4A
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CDKN2A

NM_000077.5:p.A4A

Associated Papers

Oral Melanocytic Neoplasms: A Narrative Review.

Maldonado-Mendoza J

Journal of Oral Pathology & Medicine : Official Publication of the International Association of Oral Pathologists and the American Academy of Oral Pathology, 2025

Molecular analysis of lung adenocarcinomas from the SAFIR02-Lung cohort reveals new metastasis-associated copy-number alterations including frequent mutant-specific KRAS-allelic imbalance and identifies CDKN2A homozygous deletions as an independent biomarker of poor prognosis.

Hamza A et al.

British Journal of Cancer, 2025

40931129 (PubMed )
Supplement: 41416_2025_3183_MOESM4_ESM.xlsx › S4B_Amino-acid_substitions

Prognostic and predictive implications of tumor suppressor gene alterations in non-small cell lung cancer.

Sposito M et al.

Scientific Reports, 2025

41053251 (PubMed )
Supplement: 41598_2025_18662_MOESM1_ESM.docx

Genomic alterations in pancreatic cystic neoplasms: from molecular characterization to precision clinical management.

Yang S et al.

International Journal of Surgery (london, England), 2025

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

Somatic Genomic Profiling of Pancreatic Ductal Adenocarcinomas From a Diverse Cohort of Patients.

Riner AN et al.

Pancreas, 2025

Decoding the functional impact of the cancer genome through protein-protein interactions.

Fu H et al.

Nature Reviews. Cancer, 2025

Identification of TPI1 As a potential therapeutic target in pancreatic cancer with dependency of TP53 mutation using multi-omics analysis.

Toyoda T et al.

Cancer Science, 2024

39259678 (PubMed )
Supplement: CAS-115-3622-s005.xlsx › Supplementary_table8

Inflammatory Giant Cell Carcinoma of the Lung: Clinicopathologic, Immunohistochemical, and Next-generation Sequencing Study of 14 Cases.

Suster DI et al.

The American Journal of Surgical Pathology, 2024

Clinicopathological, molecular, and prognostic features of colorectal carcinomas with KRAS c.34G>T (p.G12C) mutation.

Ugai S et al.

Cancer Science, 2024

Molecular characterization of Chinese patients with small bowel adenocarcinoma.

Jin B et al.

Clinical & Translational Oncology : Official Publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico, 2024

Pan-Cancer Comparative and Integrative Analyses of Driver Alterations Using Japanese and International Genomic Databases.

Horie S et al.

Cancer Discovery, 2024

Incidental pathogenic germline alterations detected through liquid biopsy in patients with solid tumors: prevalence, clinical utility and implications.

Laguna JC et al.

British Journal of Cancer, 2024

The deleterious variants of N-acetylgalactosamine-6-sulfatase (GalN6S) enzyme trigger Morquio a syndrome by disrupting protein foldings.

Li J et al.

Journal of Biomolecular Structure & Dynamics, 2024

A cellular and spatial atlas of TP53 -associated tissue remodeling in lung adenocarcinoma.

Zhao W et al.

Biorxiv : the Preprint Server for Biology, 2024

Fetal Type Morphologies Suggest the Presence of DICER1 Hotspot Mutations in Non-small Cell Lung Cancer.

Chong AL et al.

The American Journal of Surgical Pathology, 2024

Baseline mutational profiles of patients with carcinoma of unknown primary origin enrolled in the CUPISCO study.

Westphalen CB et al.

Esmo Open, 2023

Molecular and Sociodemographic Colorectal Cancer Disparities in Latinos Living in Puerto Rico.

Perez-Mayoral J et al.

Genes, 2023

Genomic-transcriptomic evolution in lung cancer and metastasis.

Martínez-Ruiz C et al.

Nature, 2023

Loss of HES1 Expression is Associated with Extracellular Matrix Remodeling and Tumor Immune Suppression in KRAS Mutant Colon Adenocarcinomas.

Wang L et al.

Research Square, 2023

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

de Bitter TJJ et al.

Npj Precision Oncology, 2022

Clinicopathologic Characteristics and Outcomes for Patients With KRAS G12D-Mutant NSCLC.

Cooper AJ et al.

Jto Clinical and Research Reports, 2022

36118132 (PubMed )
Supplement: mmc2.docx

Effects of TP53 Mutations and miRs on Immune Responses in the Tumor Microenvironment Important in Pancreatic Cancer Progression.

McCubrey JA et al.

Cells, 2022

Potential genetic biomarker of Saudi Arabian patients with colorectal cancer.

Younis NS et al.

European Review for Medical and Pharmacological Sciences, 2022

An In Vivo Inflammatory Loop Potentiates KRAS Blockade.

Arendt KAM et al.

Biomedicines, 2022

35327394 (PubMed )
Supplement: biomedicines-10-00592-s001.zip › biomedicines-1596404-supplementary.pdf

Early-onset pancreatic cancer: a review of molecular mechanisms, management, and survival.

Ulanja MB et al.

Oncotarget, 2022

Genomic Features of Organ-Specific Metastases in Lung Adenocarcinoma.

Feng A et al.

Frontiers in Oncology, 2022

Papillary renal neoplasm with reverse polarity: A clinicopathological and molecular genetic characterization of 16 cases with expanding the morphologic spectrum and further support for a novel entity.

Shen M et al.

Frontiers in Oncology, 2022

Genomic landscape of lung cancer in the young.

Ruiz R et al.

Frontiers in Oncology, 2022

36263208 (PubMed )
Supplement: DataSheet_2.pdf

Molecular Characterization of Biliary Tract Cancer Predicts Chemotherapy and Programmed Death 1/Programmed Death-Ligand 1 Blockade Responses.

Yoon JG et al.

Hepatology (baltimore, Md.), 2021

Integrated genomics point to immune vulnerabilities in pleural mesothelioma.

Nastase A et al.

Scientific Reports, 2021

Clinical Validation of Whole Genome Sequencing for Cancer Diagnostics.

Roepman P et al.

The Journal of Molecular Diagnostics : Jmd, 2021

Genomic Characterization of Concurrent Alterations in Non-Small Cell Lung Cancer (NSCLC) Harboring Actionable Mutations.

Passaro A et al.

Cancers, 2021

Targeted exome sequencing identifies mutational landscape in a cohort of 1500 Chinese patients with non-small cell lung carcinoma (NSCLC).

Zhou YJ et al.

Human Genomics, 2021

Multiomics Characterization of Low-Grade Serous Ovarian Carcinoma Identifies Potential Biomarkers of MEK Inhibitor Sensitivity and Therapeutic Vulnerability.

Shrestha R et al.

Cancer Research, 2021

Profiling of conditionally reprogrammed cell lines for in vitro chemotherapy response prediction of pancreatic cancer.

Lee HS et al.

Ebiomedicine, 2021

33639403 (PubMed )
Supplement: mmc3.pdf

Genomic origin and intratumor heterogeneity revealed by sequencing on carcinomatous and sarcomatous components of pulmonary sarcomatoid carcinoma.

Liu X et al.

Oncogene, 2021

Clinical Impact of Molecular Subtyping of Pancreatic Cancer.

Zhou X et al.

Frontiers in Cell and Developmental Biology, 2021

Clinical utility of circulating tumor DNA sequencing in advanced gastrointestinal cancer: SCRUM-Japan GI-SCREEN and GOZILA studies.

Nakamura Y et al.

Nature Medicine, 2020

Long-read sequencing for non-small-cell lung cancer genomes.

Sakamoto Y et al.

Genome Research, 2020

32887687 (PubMed )
Supplement: supp_gr.261941.120_Supplemental_material.docx

Clinical Implication of Concordant or Discordant Genomic Profiling between Primary and Matched Metastatic Tissues in Patients with Colorectal Cancer.

Choi JY et al.

Cancer Research and Treatment, 2020

Blood-Based Next-Generation Sequencing Analysis of Appendiceal Cancers.

Shaib WL et al.

The Oncologist, 2020

Genomic profiling of primary histiocytic sarcoma reveals two molecular subgroups.

Egan C et al.

Haematologica, 2020

Comprehensive genomic profile of cholangiocarcinomas in China.

Tian W et al.

Oncology Letters, 2020

Mutation profile of high-grade appendiceal mucinous neoplasm.

Liao X et al.

Histopathology, 2020

Comprehensive Analysis of PTEN in Primary Cutaneous Melanoma.

Němejcová K et al.

Folia Biologica, 2020

A comprehensive evaluation of pathogenic mutations in primary cutaneous melanomas, including the identification of novel loss-of-function variants.

Ticha I et al.

Scientific Reports, 2019

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

Newell F et al.

Nature Communications, 2019

The correlations of tumor mutational burden among single-region tissue, multi-region tissues and blood in non-small cell lung cancer.

Zhang Y et al.

Journal for Immunotherapy of Cancer, 2019

30944026 (PubMed )
Supplement: 40425_2019_581_MOESM3_ESM.pdf
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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."