Varaico: Literature-Extracted Genetic Variants

Gene:CDKN2A
Variant:p.L113L
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CDKN2A

NM_000077.5:p.L113L

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

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

Genotype-phenotype correlations for pancreatic cancer risk in Dutch melanoma families with pathogenic CDKN2A variants.

Overbeek KA et al.

Journal of Medical Genetics, 2021

32482799 (PubMed )
Supplement: jmedgenet-2019-106562supp001.pdf

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

Chan SH et al.

Hereditary Cancer in Clinical Practice, 2021

Germline gene polymorphisms predisposing domestic mammals to carcinogenesis.

Flisikowski K et al.

Veterinary and Comparative Oncology, 2017

New founder germline mutations of CDKN2A in melanoma-prone families and multiple primary melanoma development in a patient receiving levodopa treatment.

Kannengiesser C et al.

Genes, Chromosomes & Cancer, 2007

Familial melanoma, pancreatic cancer and germline CDKN2A mutations.

Goldstein AM

Human Mutation, 2004

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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."