Varaico: Literature-Extracted Genetic Variants

Gene:CDKN2A
Variant:p.A36delFs
Back to variants list

CDKN2A

NM_000077.5:p.A36delFs

Associated Papers

PRIME: an interpretable artificial intelligence model based on liquid biopsy improves prediction of progression risk in non-small cell lung cancer.

Wang Y et al.

Military Medical Research, 2026

41491583 (PubMed )
Supplement: 40779_2025_679_MOESM1_ESM.xlsx › Table_S9

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

MSH2, MSH6, MLH1, and PMS2 immunohistochemistry as highly sensitive screening method for DNA mismatch repair deficiency syndromes in pediatric high-grade glioma.

Friker LL et al.

Acta Neuropathologica, 2025

39894875 (PubMed )
Supplement: 401_2025_2846_MOESM1_ESM.xlsx › Sheet1

Retrospective study of germline variants in patients with hereditary melanoma study criteria in a real clinical practice setting.

Villa-Gonzalez JM et al.

Clinical and Experimental Dermatology, 2024

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

Next-Generation Sequencing of Vitreoretinal Lymphoma by Vitreous Liquid Biopsy: Diagnostic Potential and Genotype/Phenotype Correlation.

Kwak JJ et al.

Investigative Ophthalmology & Visual Science, 2023

37975847 (PubMed )
Supplement: iovs-64-14-27_s003.pdf

NGS-based targeted gene mutational profiles in Korean patients with pancreatic cancer.

Jung K et al.

Scientific Reports, 2022

36463295 (PubMed )
Supplement: 41598_2022_24732_MOESM1_ESM.xlsx › S4._Overall_mutation_profile

Cancer predisposing syndrome: a retrospective cohort analysis in a pediatric and multidisciplinary genetic cancer counseling unit.

Escudero A et al.

International Journal of Clinical Oncology, 2022

Hereditary oral squamous cell carcinoma associated with CDKN2A germline mutation: a case report.

Jeong AR et al.

Journal of Otolaryngology - Head & Neck Surgery = Le Journal D'oto-rhino-laryngologie Et De Chirurgie Cervico-faciale, 2022

Sporadic and Lynch syndrome-associated mismatch repair-deficient brain tumors.

Kim H et al.

Laboratory Investigation; a Journal of Technical Methods and Pathology, 2022

Efficacy of BRAF and MEK Inhibition in Patients with BRAF-Mutant Advanced Melanoma and Germline CDKN2A Pathogenic Variants.

Spagnolo F et al.

Cancers, 2021

34069952 (PubMed )
Supplement: cancers-13-02440-s001.zip › cancers-1207401-supplementary.pdf

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

Chan SH et al.

Hereditary Cancer in Clinical Practice, 2021

Still diagnosed too late and under-recognized? The first comprehensive report on primary hyperoxaluria in Poland.

Sikora P et al.

Polish Archives of Internal Medicine, 2020

Comprehensive review of genetic factors contributing to head and neck squamous cell carcinoma development in low-risk, nontraditional patients.

Gingerich MA et al.

Head & Neck, 2018

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

Novel germline CDKN2A mutation associated with head and neck squamous cell carcinomas and melanomas.

Cabanillas R et al.

Head & Neck, 2013

[Pancreatic cancer screening in a clinical practice setting: it is the moment of Prevention].

Adán-Merino L et al.

Revista De Gastroenterologia Del Peru : Organo Oficial De La Sociedad De Gastroenterologia Del Peru, 0

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."