Associated Papers
Paired tumor-normal sequencing provides insights into the CDKN2A-associated tumor spectrum.
Breen KE et al.
Npj Precision Oncology, 2025
41258420 (PubMed )
Supplement: 41698_2025_1155_MOESM2_ESM.xlsx › Table_S1-Clinical_Information
Germline CDKN2A Variant Cascade Testing Across Four Generations Reveals Familial Melanoma-Breast Cancer Genotype-Phenotype Correlation.
Berkman J et al.
Pigment Cell & Melanoma Research, 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
Discrepancies between tumor genomic profiling and germline genetic testing.
Pauley K et al.
Esmo Open, 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
CDKN2A genetic testing in melanoma-prone families in Sweden in the years 2015-2020: implications for novel national recommendations.
Pissa M et al.
Acta Oncologica (stockholm, Sweden), 2021
CDKN2A germline alterations and the relevance of genotype-phenotype associations in cancer predisposition.
Chan SH et al.
Hereditary Cancer in Clinical Practice, 2021
Interpreting Sequence Variation in PDAC-Predisposing Genes Using a Multi-Tier Annotation Approach Performed at the Gene, Patient, and Cohort Level.
Zimmermann MT et al.
Frontiers in Oncology, 2021
33747920 (PubMed )
Supplement: DataSheet_2.xlsx › Table_S5
Prevalence of pathogenic germline cancer risk variants in high-risk urothelial carcinoma.
Nassar AH et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
31844177 (PubMed )
Supplement: 41436_2019_720_MOESM4_ESM.xlsx › S1.2_Pathogenic_variants
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
Molecular characterization of melanoma cases in Denmark suspected of genetic predisposition.
Wadt KA et al.
Plos One, 2015
High risk of tobacco-related cancers in CDKN2A mutation-positive melanoma families.
Helgadottir H et al.
Journal of Medical Genetics, 2014
Geographical variation in the penetrance of CDKN2A mutations for melanoma.
Bishop DT et al.
Journal of the National Cancer Institute, 2002
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