Varaico: Literature-Extracted Genetic Variants

Gene:CDKN2A
Variant:p.S56fs
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CDKN2A

NM_000077.5:p.S56fs

Associated Papers

Identification of genomic biomarkers of disease progression and survival in primary CNS lymphoma.

Geng H et al.

Blood Advances, 2025

Navigating uncharted territory: a case report and literature review on the remarkable response to personalized crizotinib containing combinational therapy in a pazopanib refractory patient with novel alterations.

Aydın E et al.

Therapeutic Advances in Medical Oncology, 2024

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

Design and Testing of a Custom Melanoma Next Generation Sequencing Panel for Analysis of Circulating Tumor DNA.

Diefenbach RJ et al.

Cancers, 2020

32785074 (PubMed )
Supplement: cancers-12-02228-s001.zip › TableS5PatientMutationsIdentified.xlsx › Sheet1

Unique molecular features and clinical outcomes in young patients with non-small cell lung cancer harboring ALK fusion genes.

Tian P et al.

Journal of Cancer Research and Clinical Oncology, 2020

Association of MC1R variants and host phenotypes with melanoma risk in CDKN2A mutation carriers: a GenoMEL study.

Demenais F et al.

Journal of the National Cancer Institute, 2010

20876876 (PubMed )
Supplement: supp_djq363_JNCI-09-1449R-Suppl_tables.pdf

Familial melanoma, pancreatic cancer and germline CDKN2A mutations.

Goldstein AM

Human Mutation, 2004

Prospective risk of cancer in CDKN2A germline mutation carriers.

Goldstein AM et al.

Journal of Medical Genetics, 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."