Varaico: Literature-Extracted Genetic Variants

Gene:CDKN2A
Variant:p.I49T
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CDKN2A

NM_000077.5:p.I49T

Associated Papers

From Diagnosis, Therapy Decision-Making to Genetic Risk Assessment: The Impact of ctDNA Testing on Comprehensive Cancer Management-A Case Report.

Kanwar N et al.

Journal of the National Comprehensive Cancer Network : Jnccn, 2025

Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric central nervous system tumors.

Corbett RJ et al.

Nature Communications, 2025

41271695 (PubMed )
Supplement: 41467_2025_65190_MOESM13_ESM.xlsx › germline_snv_indel

Cancer spectrum in Mexican patients with the CHEK2 p.(Leu236Pro) variant: a retrospective study.

Flores-Lagunes LL et al.

Familial Cancer, 2025

40960710 (PubMed )
Supplement: 10689_2025_490_MOESM1_ESM.xlsx › Table_S2

Genetic evaluation of pediatric pituitary adenomas and USP8-related genotype-phenotype correlations in Cushing's disease.

Zainab R et al.

Pituitary, 2025

Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric CNS tumors.

Corbett RJ et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

39974082 (PubMed )
Supplement: media-12.xlsx › TableS11A-germline_snv_indel

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

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

Germline Genetic Variants in Cancer Predisposition Genes in Patients From Latin America and the Caribbean.

Wegman-Ostrosky T et al.

Jco Global Oncology, 2025

Comparative analysis of RNA expression in a single institution cohort of pediatric cancer patients.

Vasquez YA et al.

Npj Precision Oncology, 2025

40119139 (PubMed )
Supplement: 41698_2025_852_MOESM8_ESM.xlsx › Supplementary_Data_6

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

Los olvidados: Non-BRCA variants associated with Hereditary breast cancer in Mexican population.

Aguilar D et al.

Breast Cancer Research : Bcr, 2025

Pathogenic Variants in Cancer Susceptibility Genes Predispose to Ductal Carcinoma In Situ of the Breast.

Huang H et al.

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

Landscape of Multilocus Inherited Neoplasia Allele Syndrome in Mexican Population.

Aguilar D et al.

Jco Global Oncology, 2025

Characterizing the Mutational Landscape of Diffuse Large B-Cell Lymphoma in a Prospective Cohort of Mexican Patients.

Candelaria M et al.

International Journal of Molecular Sciences, 2024

39273276 (PubMed )
Supplement: ijms-25-09328-s001.zip › ijms-3114367-supplementary.pdf

Germline mutations in pediatric cancer cohort with mixed-ancestry Mexicans.

Alonso-Luna O et al.

Molecular Genetics & Genomic Medicine, 2024

IKZF1plus is a frequent biomarker of adverse prognosis in Mexican pediatric patients with B-acute lymphoblastic leukemia.

Garcia-Solorio J et al.

Frontiers in Oncology, 2024

Population screening shows risk of inherited cancer and familial hypercholesterolemia in Oregon.

O'Brien TD et al.

American Journal of Human Genetics, 2023

Clinical implications of conflicting variant interpretations in the cancer genetics clinic.

Zukin E et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2023

Molecular Tumor Boards: The Next Step towards Precision Therapy in Cancer Care.

Liu A et al.

Hematology Reports, 2023

37092519 (PubMed )
Supplement: hematolrep-15-00025-s001.zip › hematolrep-2176609-supplementary.pdf

Utilization of cytologic cell blocks for targeted sequencing of solid tumors.

Vormittag-Nocito E et al.

Cancer Medicine, 2023

36125633 (PubMed )
Supplement: CAM4-12-4042-s001.xlsx › Sheet1

RUNX1 mutations contribute to the progression of MDS due to disruption of antitumor cellular defense: a study on patients with lower-risk MDS.

Kaisrlikova M et al.

Leukemia, 2022

35505182 (PubMed )
Supplement: 41375_2022_1584_MOESM2_ESM.xlsx › Mutations_214_LR-MDS

Integrated Genomic Analysis Identifies UBTF Tandem Duplications as a Recurrent Lesion in Pediatric Acute Myeloid Leukemia.

Umeda M et al.

Blood Cancer Discovery, 2022

35176137 (PubMed )
Supplement: bcd-21-0160_supplemental_tables_supp1-32.xlsx › Table_S18_SNV-RNA

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

Kimura H et al.

Elife, 2022

Sequence and Structure-Based Analyses of Human Ankyrin Repeats.

Chakrabarty B et al.

Molecules (basel, Switzerland), 2022

35056738 (PubMed )
Supplement: molecules-27-00423-s001.zip › SupplementaryFileS4.xlsx › Sheet1

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 › S9._Germline_VUS

The LOVD3 platform: efficient genome-wide sharing of genetic variants.

Fokkema IFAC et al.

European Journal of Human Genetics : Ejhg, 2021

34521998 (PubMed )
Supplement: 41431_2021_959_MOESM3_ESM.pdf

Predictive Biomarkers for Immune Checkpoint Inhibitors in Metastatic Breast Cancer.

Sivapiragasam A et al.

Cancer Medicine, 2021

33314633 (PubMed )
Supplement: CAM4-10-53-s002.xlsx › Sheet1

Latin American Study of Hereditary Breast and Ovarian Cancer LACAM: A Genomic Epidemiology Approach.

Oliver J et al.

Frontiers in Oncology, 2019

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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."