Varaico: Literature-Extracted Genetic Variants

Gene:CDKN2A
Variant:p.A68P
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CDKN2A

NM_000077.5:p.A68P

Associated Papers

Paired tumor-normal sequencing provides insights into the CDKN2A-associated tumor spectrum.

Breen KE et al.

Npj Precision Oncology, 2025

41258420 (PubMed )
Supplement: 41698_2025_1155_MOESM2_ESM.xlsx › Table_S1-Clinical_Information

Germline CDKN2A Variant Cascade Testing Across Four Generations Reveals Familial Melanoma-Breast Cancer Genotype-Phenotype Correlation.

Berkman J et al.

Pigment Cell & Melanoma Research, 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-supp9.xlsx › Appendix_1-table_9

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

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

Impact of Transcript (p16/p14ARF) Alteration on Cancer Risk in CDKN2A Germline Pathogenic Variant Carriers.

Sargen MR et al.

Jnci Cancer Spectrum, 2022

36269225 (PubMed )
Supplement: pkac074_supplementary_data.pdf

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

CDKN2A germline alterations and the relevance of genotype-phenotype associations in cancer predisposition.

Chan SH et al.

Hereditary Cancer in Clinical Practice, 2021

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

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

Constitutive mitochondrial DNA copy number in peripheral blood of melanoma families with and without CDKN2A mutations.

Hyland PL et al.

Journal of Carcinogenesis & Mutagenesis, 2014

Prevalence and predictors of germline CDKN2A mutations for melanoma cases from Australia, Spain and the United Kingdom.

Harland M et al.

Hereditary Cancer in Clinical Practice, 2014

Next-generation sequencing reveals high concordance of recurrent somatic alterations between primary tumor and metastases from patients with non-small-cell lung cancer.

Vignot S et al.

Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology, 2013

Melanoma risk for CDKN2A mutation carriers who are relatives of population-based case carriers in Australia and the UK.

Cust AE et al.

Journal of Medical Genetics, 2011

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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."