Varaico: Literature-Extracted Genetic Variants

Gene:CDKN2A
Variant:p.A76fs
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CDKN2A

NM_000077.5:p.A76fs

Associated Papers

Clinical features, mutational landscape and their prognostic impact in Chinese paediatric patients with T-cell lymphoblastic lymphoma.

Li Y et al.

British Journal of Haematology, 2025

40958529 (PubMed )
Supplement: supplement_1.zip › Table_S3.xlsx › Sheet1

Clinicogenomic landscape of pancreatic adenocarcinoma identifies KRAS mutant dosage as prognostic of overall survival.

Varghese AM et al.

Nature Medicine, 2025

39753968 (PubMed )
Supplement: 41591_2024_3362_MOESM2_ESM.xlsx › SupplementaryTable2_IMPACT_Alts

Psychological Distress and Quality of Life in Families With a Germline CDKN2A Pathogenic Variant.

Onnekink AM et al.

Molecular Genetics & Genomic Medicine, 2025

Psychosocial issues of individuals undergoing surveillance for increased risk of melanoma and pancreatic cancer due to a germline CDKN2A variant: A focus group study.

Klatte DCF et al.

Journal of Genetic Counseling, 2024

Functional Homologous Recombination (HR) Screening Shows the Majority of BRCA1/2-Mutant Breast and Ovarian Cancer Cell Lines Are HR-Proficient.

Meijer TG et al.

Cancers, 2024

38398132 (PubMed )
Supplement: cancers-16-00741-s001.zip › Table_S1-2_WES_results.xlsx › Table_S1

Understanding the Genetic Landscape of Pancreatic Ductal Adenocarcinoma to Support Personalized Medicine: A Systematic Review.

Pantaleo A et al.

Cancers, 2023

Oncogenic activation revealed by FGFR2 genetic alterations in intrahepatic cholangiocarcinomas.

Pu X et al.

Cell & Bioscience, 2023

37964396 (PubMed )
Supplement: 13578_2023_1156_MOESM12_ESM.xls › ____

Clinical utility of Todai OncoPanel in the setting of approved comprehensive cancer genomic profiling tests in Japan.

Kage H et al.

Cancer Science, 2023

36601953 (PubMed )
Supplement: CAS-114-1710-s001.xlsx › Sup_Table_3

Whole exome sequencing in Chinese mucinous pulmonary adenocarcinoma uncovers specific genetic variations different from lung adenocarcinoma.

Zhang C et al.

Frontiers in Oncology, 2022

Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study.

Haverfield EV et al.

Bmc Medicine, 2021

34404389 (PubMed )
Supplement: 12916_2021_1999_MOESM2_ESM.pdf

Genotype-phenotype correlations for pancreatic cancer risk in Dutch melanoma families with pathogenic CDKN2A variants.

Overbeek KA et al.

Journal of Medical Genetics, 2021

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

Chan SH et al.

Hereditary Cancer in Clinical Practice, 2021

Analysis of Sequence and Copy Number Variants in Canadian Patient Cohort With Familial Cancer Syndromes Using a Unique Next Generation Sequencing Based Approach.

Bhai P et al.

Frontiers in Genetics, 2021

34326862 (PubMed )
Supplement: Data_Sheet_1.zip › Supplementary_files › Supplementary_Table_S4.xlsx › Every_test

CDKN2A-Inactivated Pancreatic Ductal Adenocarcinoma Exhibits Therapeutic Sensitivity to Paclitaxel: A Bioinformatics Study.

Lin JC et al.

Journal of Clinical Medicine, 2020

33322698 (PubMed )
Supplement: jcm-09-04019-s001.zip › jcm-1006906supple › Table-S1-TCGA-data.xlsx › _c__HNSC

Loss of Wild-Type CDKN2A Is an Early Event in the Development of Melanoma in FAMMM Syndrome.

Christodoulou E et al.

The Journal of Investigative Dermatology, 2020

Assessing a single SNP located at TERT/CLPTM1L multi-cancer risk region as a genetic modifier for risk of pancreatic cancer and melanoma in Dutch CDKN2A mutation carriers.

Christodoulou E et al.

Familial Cancer, 2019

Multigene panel sequencing of established and candidate melanoma susceptibility genes in a large cohort of Dutch non-CDKN2A/CDK4 melanoma families.

Potjer TP et al.

International Journal of Cancer, 2019

Germline cancer susceptibility gene variants, somatic second hits, and survival outcomes in patients with resected pancreatic cancer.

Yurgelun MB et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

CM-Score: a validated scoring system to predict CDKN2A germline mutations in melanoma families from Northern Europe.

Potjer TP et al.

Journal of Medical Genetics, 2018

Risk of multiple pancreatic cancers in CDKN2A-p16-Leiden mutation carriers.

Ibrahim I et al.

European Journal of Human Genetics : Ejhg, 2018

Germline hemizygous deletion of CDKN2A-CDKN2B locus in a patient presenting with Li-Fraumeni syndrome.

Chan SH et al.

Npj Genomic Medicine, 2016

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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."