Varaico: Literature-Extracted Genetic Variants

Gene:CDKN2A
Variant:p.A76fs
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CDKN2A

NM_000077.5:p.A76fs

Associated Papers

Abnormal nuclear and nucleolar immunoreactivity of p16INK4a represents a frameshift alteration in CDKN2A: the E6H4 clone recognizes the "p14ARF::p16INK4a" chimeric protein.

Mitsui A et al.

Virchows Archiv : an International Journal of Pathology, 2025

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

Hallmarks of a genomically distinct subclass of head and neck cancer.

Muijlwijk T et al.

Nature Communications, 2024

39428388 (PubMed )
Supplement: 41467_2024_53390_MOESM4_ESM.xlsx › 3._List_of_all_somatic_variants

Expanding Broad Molecular Reflex Testing in Non-Small Cell Lung Cancer to Squamous Histology.

Zacharias M et al.

Cancers, 2024

38473263 (PubMed )
Supplement: cancers-16-00903-s001.zip › TableS2.xlsx › Tabelle

Exploration of the immunogenetic landscape of hyperprogressive disease after combined immunotherapy in cancer patients.

Gong C et al.

Iscience, 2023

Adult Low-Hypodiploid Acute Lymphoblastic Leukemia Emerges from Preleukemic TP53-Mutant Clonal Hematopoiesis.

Kim R et al.

Blood Cancer Discovery, 2023

36630200 (PubMed )
Supplement: bcd-22-0154_supplementary_tables_s1-s11_suppst1-st11.xlsx › TableS2

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

Technical Performance of a 430-Gene Preventative Genomics Assay to Identify Multiple Variant Types Associated with Adult-Onset Monogenic Conditions, Susceptibility Loci, and Pharmacogenetic Insights.

Silver A et al.

Journal of Personalized Medicine, 2022

35629091 (PubMed )
Supplement: jpm-12-00667-s001.zip › jpm-1646052-supplementary.xlsx › Table_S1__Samples_

Lessons learned from unsolicited findings in clinical exome sequencing of 16,482 individuals.

van der Schoot V et al.

European Journal of Human Genetics : Ejhg, 2022

34697415 (PubMed )
Supplement: 41431_2021_964_MOESM3_ESM.xlsx › Table_S1

The Role of Inherited Pathogenic CDKN2A Variants in Susceptibility to Pancreatic Cancer.

Kimura H et al.

Pancreas, 2021

Mutation profile and immunoscore signature in thymic carcinomas: An exploratory study and review of the literature.

Asselta R et al.

Thoracic Cancer, 2021

33704917 (PubMed )
Supplement: TCA-12-1271-s003.xls › Foglio1

Comprehensive Custom NGS Panel Validation for the Improvement of the Stratification of B-Acute Lymphoblastic Leukemia Patients.

Montaño A et al.

Journal of Personalized Medicine, 2020

32967112 (PubMed )
Supplement: jpm-10-00137-s001.pdf

Study of Caspase 8 mutation in oral cancer and adjacent precancer tissues and implication in progression.

Singh R et al.

Plos One, 2020

32492030 (PubMed )
Supplement: pone.0233058.s001.xlsx › RADS10

Identification of Circulating Genomic and Metabolic Biomarkers in Intrahepatic Cholangiocarcinoma.

Winter H et al.

Cancers, 2019

31795195 (PubMed )
Supplement: cancers-11-01895-s001.zip › ICC_ctDNA_Cancers_Supplementary_Table_5._50_cancer_gene_panel_information.xlsx › cms_106003

PRIMA-1MET-induced neuroblastoma cell death is modulated by p53 and mycn through glutathione level.

Mlakar V et al.

Journal of Experimental & Clinical Cancer Research : Cr, 2019

30755224 (PubMed )
Supplement: 13046_2019_1066_MOESM1_ESM.xlsx › BE-2C

Evaluating Susceptibility to Pancreatic Cancer: ASCO Provisional Clinical Opinion.

Stoffel EM et al.

Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology, 2019

30457921 (PubMed )
Supplement: ds_JCO.18.01489.pdf

CDKN2A/P16INK4A variants association with breast cancer and their in-silico analysis.

Aftab A et al.

Breast Cancer (tokyo, Japan), 2019

CDKN2A founder mutation in pancreatic ductal adenocarcinoma patients without cutaneous features of Familial Atypical Multiple Mole Melanoma (FAMMM) syndrome.

Cremin C et al.

Hereditary Cancer in Clinical Practice, 2018

Germline CDKN2A/P16INK4A mutations contribute to genetic determinism of sarcoma.

Jouenne F et al.

Journal of Medical Genetics, 2017

RET Aberrations in Diverse Cancers: Next-Generation Sequencing of 4,871 Patients.

Kato S et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2017

27683183 (PubMed )
Supplement: 10780432ccr161679-sup-168576_1_supp_3636667_wcc1ns.docx

Targeted next-generation sequencing of FNA-derived DNA in pancreatic cancer.

Sibinga Mulder BG et al.

Journal of Clinical Pathology, 2017

Comprehensive Genomic Profiling of Advanced Penile Carcinoma Suggests a High Frequency of Clinically Relevant Genomic Alterations.

Ali SM et al.

The Oncologist, 2016

Genetic predisposition to pancreatic cancer.

Ghiorzo P

World Journal of Gastroenterology, 2014

Exome and whole-genome sequencing of esophageal adenocarcinoma identifies recurrent driver events and mutational complexity.

Dulak AM et al.

Nature Genetics, 2013

23525077 (PubMed )
Supplement: NIHMS474888-supplement-1.pdf

Familial melanoma: clinical factors associated with germline CDKN2A mutations according to the number of patients affected by melanoma in a family.

Maubec E et al.

Journal of the American Academy of Dermatology, 2012

Indication for CDKN2A-mutation analysis in familial pancreatic cancer families without melanomas.

Harinck F et al.

Journal of Medical Genetics, 2012

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

Atypical familial presentation of FAMMM syndrome with a high incidence of pancreatic cancer: case finding of asymptomatic individuals by EUS surveillance.

Kluijt I et al.

Journal of Clinical Gastroenterology, 2009

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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."