Varaico: Literature-Extracted Genetic Variants

Gene:CDKN2A
Variant:p.R80_A85delFs
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CDKN2A

NM_000077.5:p.R80_A85delFs

Associated Papers

Novel susceptibility genes for non-NF2-/LZTR1-/SMARCB1-related hereditary schwannomatosis.

Nogué C et al.

Familial Cancer, 2025

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

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

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

Chan SH et al.

Hereditary Cancer in Clinical Practice, 2021

Erratum: Dudley B, Karloski E, Monzon FA, et al. Germline mutation prevalence in individuals with pancreatic cancer and a history of previous malignancy. Cancer. 2018;124:1691-1700.

Unknown Author

Cancer, 2018

Germline mutation prevalence in individuals with pancreatic cancer and a history of previous malignancy.

Dudley B et al.

Cancer, 2018

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

Multiple neurofibromas as the presenting feature of familial atypical multiple malignant melanoma (FAMMM) syndrome.

Vanneste R et al.

American Journal of Medical Genetics. Part A, 2013

Comprehensive mutational analysis of CDKN2A and CDK4 in Greek patients with cutaneous melanoma.

Nikolaou V et al.

The British Journal of Dermatology, 2011

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

Features associated with germline CDKN2A mutations: a GenoMEL study of melanoma-prone families from three continents.

Goldstein AM et al.

Journal of Medical Genetics, 2007

High-risk melanoma susceptibility genes and pancreatic cancer, neural system tumors, and uveal melanoma across GenoMEL.

Goldstein AM et al.

Cancer Research, 2006

Association of MC1R variants and risk of melanoma in melanoma-prone families with CDKN2A mutations.

Goldstein AM et al.

Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 2005

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."