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CDKN2A Gene Mutations: Implications for Hereditary Cancer Syndromes

18 Dec 2023

Abstract excerpt

Malignant neoplasms, including pancreatic cancer and melanoma, are major global health challenges. This study investigates melanoma pancreatic syndrome, a rare hereditary tumor syndrome associated with CDKN2A gene mutations. CDKN2A mutations contribute to a lifetime risk of melanoma ranging from 28% to 67%. This study reports the clinical features of six individuals with CDKN2A mutations and identifies recurrent...

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PMID: 38137564
DOI: 10.3390/biomedicines11123343

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