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Article

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

Journal of medical genetics - 1 Apr 2021

Overbeek Kasper A, Rodríguez-Girondo Mar Dm, Wagner Anja, van der Stoep Nienke, van den Akker Peter C, Oosterwijk Jan C, van Os Theo A, van der Kolk Lizet E, Vasen Hans F A, Hes Frederik J, Cahen Djuna L, Bruno Marco J, Potjer Thomas P

Abstract excerpt

BACKGROUND: Pathogenic variants in the CDKN2A gene are generally associated with the development of melanoma and pancreatic ductal adenocarcinoma (PDAC), but specific genotype-phenotype correlations might exist and the extent of PDAC risk is not well established for many variants. METHODS: Using the Dutch national familial melanoma database, we identified all families with a pathogenic CDKN2A variant and...

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Identifiers

PMID: 32482799
DOI: 10.1136/jmedgenet-2019-106562
PMCID: PMC8005797

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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