Varaico: Literature-Extracted Genetic Variants

Gene:CDKN2A
Variant:p.A148T
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CDKN2A

NM_000077.5:p.A148T

Associated Papers

Role of common host genome variants in Childhood Acute Lymphoblastic Leukemia.

Mikkelsen T et al.

Leukemia, 2026

Genomic Profiling of Highly Aggressive Musculoskeletal Sarcomas Identifies Potential Therapeutic Targets: A Single-Center Experience.

Parra A et al.

Cancers, 2025

41514647 (PubMed )
Supplement: cancers-18-00139-s001.zip › cancers-4026395-supplementary-Table_S2.pdf

Pathogenic CDKN2A germline variants are rare in a cohort of unselected pancreatic cancer patients from Pakistan.

Arif S et al.

Familial Cancer, 2025

Structural analysis of the impact of germline mutations of p16 in melanoma prone families.

Arun D et al.

Molecular Diversity, 2025

Genetic variants linked to type 2 diabetes in CDKN1B and TCF7L2 influence survival outcomes in metastatic colorectal cancer.

Ruggiero R et al.

International Journal of Cancer, 2025

Genetic Insights into Hemiplegic Migraine: Whole Exome Sequencing Highlights Vascular Pathway Involvement via Association Analysis.

Molaee Z et al.

Genes, 2025

Allelic expression imbalance of CDKN2A variants in childhood acute lymphoblastic leukemia.

Tang Z et al.

Cellular Oncology (dordrecht, Netherlands), 2025

Polygenic Risk Score Analysis of 37 SNPs Associated with Melanoma Risk in Colombian Population.

Tovar-Parra D et al.

International Journal of Molecular Sciences, 2025

40429816 (PubMed )
Supplement: ijms-26-04674-s001.zip › ijms-3524919-supplementary.xlsx › Table_S2

Germline variants in CDKN2A wild-type melanoma prone families.

Iversen GT et al.

Molecular Oncology, 2025

Functional characterization of all CDKN2A missense variants and comparison to in silico models of pathogenicity.

Kimura H et al.

Elife, 2025

40238651 (PubMed )
Supplement: elife-95347-fig2-data1.xlsx › Raw_data_in_Figure_2B

The Application of Liquid Biopsy for the Development and Validation of a Non-Invasive Screening and Diagnosis Test for Endometrial Premalignant and Malignant Lesions: A Prospective Innovative Pilot Study.

Esposito G et al.

Cancers, 2025

40227624 (PubMed )
Supplement: cancers-17-01078-s001.zip › cancers-3453291-supplementary.xlsx › Foglio1

Functional characterization of all CDKN2A missense variants and comparison to in silico models of pathogenicity.

Kimura H et al.

Biorxiv : the Preprint Server for Biology, 2025

38234851 (PubMed )
Supplement: media-2.pdf

A comprehensive consolidation of data on the connection between CDKN2A polymorphisms and the susceptibility to childhood acute lymphoblastic leukemia.

Aghasipour M et al.

Hematology, Transfusion and Cell Therapy, 2024

Duodenal Fluid Analysis as a Rewarding Approach to Detect Low-Abundance Mutations in Biliopancreatic Cancers.

Tavano F et al.

International Journal of Molecular Sciences, 2024

39126005 (PubMed )
Supplement: ijms-25-08436-s001.zip › ijms-3092029-supplementary.xlsx › S3_List_of_variants

Subungual melanoma with cartilaginous differentiation: Molecular insights.

Shaikh U et al.

Journal of Cutaneous Pathology, 2024

Targeted sequencing for hereditary breast and ovarian cancer in BRCA1/2-negative families reveals complex genetic architecture and phenocopies.

Plowman JN et al.

Hgg Advances, 2024

38734904 (PubMed )
Supplement: mmc2.xlsx › Table_S5

Targeted sequencing analysis of loci implicated in familial melanoma in a Greek cohort.

Kypreou K et al.

Journal of the European Academy of Dermatology and Venereology : Jeadv, 2024

Combining germline, tissue and liquid biopsy analysis by comprehensive genomic profiling to improve the yield of actionable variants in a real-world cancer cohort.

Vanni I et al.

Journal of Translational Medicine, 2024

38750555 (PubMed )
Supplement: 12967_2024_5227_MOESM15_ESM.xlsx › S15

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

Functional Homologous Recombination (HR) Screening Shows the Majority of BRCA1/2-Mutant Breast and Ovarian Cancer Cell Lines Are HR-Proficient.

Meijer TG et al.

Cancers, 2024

38398132 (PubMed )
Supplement: cancers-16-00741-s001.zip › Table_S1-2_WES_results.xlsx › Table_S1

Increased Frequency of Clonal Hematopoiesis of Indeterminate Potential in Bloom Syndrome Probands and Carriers.

Lin I et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

38370823 (PubMed )
Supplement: media-1.xlsx › Table_S5_CHIPVAFlt03

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

Establishment and Thorough Characterization of Xenograft (PDX) Models Derived from Patients with Pancreatic Cancer for Molecular Analyses and Chemosensitivity Testing.

Behrens D et al.

Cancers, 2023

38136299 (PubMed )
Supplement: cancers-15-05753-s001.zip › Behrens_Cancers2023_SuppTables.xlsx › Table_S1

High- and intermediate-risk susceptibility variants in melanoma families from the Mediterranean area: A multicentre cohort from the MelaNostrum Consortium.

Pellegrini C et al.

Journal of the European Academy of Dermatology and Venereology : Jeadv, 2023

Protocol optimization of a targeted sequencing panel for genomic profiling of bronchoalveolar lavage fluid in lung cancer.

Sather CL et al.

Cancer Medicine, 2023

37587851 (PubMed )
Supplement: CAM4-12-17632-s002.xlsx › S11.HighCovVariantsSurvPanel

Report on the Effect of the Implementation of an Early Detection and Prevention of Cancer Program on Families at High Hereditary Risk-Concentrating on Patients Undergoing Genetic Diagnostics and Counseling in Central Poland.

Kałużewski T et al.

International Journal of Molecular Sciences, 2023

CDKN2A/CDK4 status in Brazilian patients meeting clinical criteria for hereditary melanoma: a cross-sectional descriptive trial.

Arnaut JRMB et al.

International Journal of Dermatology, 2023

Genomic Landscape of Normal and Breast Cancer Tissues in a Hungarian Pilot Cohort.

Pipek O et al.

International Journal of Molecular Sciences, 2023

37239898 (PubMed )
Supplement: ijms-24-08553-s001.zip › Supp_Fig_1_new.pdf

Multiple primary melanomas: Is there a correlation between dermoscopic features and germline mutations?

Lambertini M et al.

The Australasian Journal of Dermatology, 2023

Response prediction in patients with gastric and esophagogastric adenocarcinoma under neoadjuvant chemotherapy using targeted gene expression analysis and next-generation sequencing in pre-therapeutic biopsies.

Kleo K et al.

Journal of Cancer Research and Clinical Oncology, 2023

35246724 (PubMed )
Supplement: 432_2022_3944_MOESM1_ESM.xlsx › variant-list

Brain Invasion and Trends in Molecular Research on Meningioma.

Go KO et al.

Brain Tumor Research and Treatment, 2023

The clinical relevance of broad mutational screening of myeloproliferative neoplasms at diagnosis.

Pettersson H et al.

Frontiers in Oncology, 2023

Whole-exome sequencing of calcitonin-producing pancreatic neuroendocrine neoplasms indicates a unique molecular signature.

Döring C et al.

Frontiers in Oncology, 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

37964967 (PubMed )
Supplement: Table_1.xlsx › Table_S3

Defining novel causal SNPs and linked phenotypes at melanoma-associated loci.

Castaneda-Garcia C et al.

Human Molecular Genetics, 2022

35357426 (PubMed )
Supplement: supplementary_table_5_ddac074.xlsx › Supplementary_table_5

Association of IKZF1 and CDKN2A gene polymorphisms with childhood acute lymphoblastic leukemia: a high-resolution melting analysis.

Sattarzadeh Bardsiri M et al.

Bmc Medical Genomics, 2022

Molecular Targets in Lung Cancer: Study of the Evolution of Biomarkers Associated with Treatment with Tyrosine Kinase Inhibitors-Has NF1 Tumor Suppressor a Key Role in Acquired Resistance?

Alen BO et al.

Cancers, 2022

35884384 (PubMed )
Supplement: cancers-14-03323-s001.zip › SUPPLEMENTARY_MATERIAL.xlsx › S5

The functional role of inherited CDKN2A variants in childhood acute lymphoblastic leukemia.

Li C et al.

Pharmacogenetics and Genomics, 2022

Germline variant screening with targeted next generation sequencing in prostate cancer: phenotype-genotype correlation.

Çakır AY et al.

Turkish Journal of Medical Sciences, 2022

Functional CDKN2A assay identifies frequent deleterious alleles misclassified as variants of uncertain significance.

Kimura H et al.

Elife, 2022

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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."