Varaico: Literature-Extracted Genetic Variants

Gene:CDKN2A
Variant:p.E120delFs
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CDKN2A

NM_000077.5:p.E120delFs

Associated Papers

Prevalence and characteristics of lung cancer in families harboring Pathogenic Germline Variants in cancer predisposing genes: A 20-year retrospective analysis.

Laguna JC et al.

European Journal of Cancer (oxford, England : 1990), 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

Germline cancer-related mutations detected by routine targeted NGS for tumour analysis: A series of 357 melanoma patients.

Garcia-Casado Z et al.

Journal of the European Academy of Dermatology and Venereology : Jeadv, 2023

High- and intermediate-risk susceptibility variants in melanoma families from the Mediterranean area: A multicentre cohort from the MelaNostrum Consortium.

Pellegrini C et al.

Journal of the European Academy of Dermatology and Venereology : Jeadv, 2023

Pancreatic Cancer Surveillance in Carriers of a Germline Pathogenic Variant in CDKN2A.

Llach J et al.

Cancers, 2023

Genomic landscape of lung cancer in the young.

Ruiz R et al.

Frontiers in Oncology, 2022

36263208 (PubMed )
Supplement: DataSheet_2.pdf

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

Chan SH et al.

Hereditary Cancer in Clinical Practice, 2021

Characterization of individuals at high risk of developing melanoma in Latin America: bases for genetic counseling in melanoma.

Puig S et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2016

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

Lack of germline PALB2 mutations in melanoma-prone families with CDKN2A mutations and pancreatic cancer.

Yang XR et al.

Familial Cancer, 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

Novel CDKN2A mutation detected in Spanish melanoma pedigree.

de Torre C et al.

Experimental Dermatology, 2010

Dermoscopic features of melanomas associated with MC1R variants in Spanish CDKN2A mutation carriers.

Cuéllar F et al.

The British Journal of Dermatology, 2009

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

Age does not appear to be a major indicator of CDKN2A or CDK4 mutations in melanoma patients in Spain.

Nagore E et al.

Melanoma Research, 2005

Familial melanoma, pancreatic cancer and germline CDKN2A mutations.

Goldstein AM

Human Mutation, 2004

Analysis of mutations in the p16/CDKN2A gene in sporadic and familial melanoma in the Polish population.

Lamperska K et al.

Acta Biochimica Polonica, 2002

CDKN2A mutations in Spanish cutaneous malignant melanoma families and patients with multiple melanomas and other neoplasia.

Ruiz A et al.

Journal of Medical Genetics, 1999

Inherited susceptibility to several cancers but absence of linkage between dysplastic nevus syndrome and CDKN2A in a melanoma family with a mutation in the CDKN2A (P16INK4A) gene.

Puig S et al.

Human Genetics, 1997

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