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Pathogenic CDKN2A germline variants are rare in a cohort of unselected pancreatic cancer patients from Pakistan.

Familial cancer - 6 Dec 2025

Arif Shumaila, Muhammad Noor, Naeemi Humaira, Rashid Muhammad Usman

Abstract excerpt

Pancreatic cancer is a highly aggressive malignancy, with 10%-20% of cases linked to inherited genetic risk factors. Pathogenic variants (PVs) in the cyclin-dependent kinase inhibitor 2A (CDKN2A) gene have been associated with pancreatic cancer among Caucasians. However, data from South Asians are lacking. We investigated the prevalence of CDKN2A germline variants in 200 consecutively and prospectively enrolled,...

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Identifiers

PMID: 41351753
DOI: 10.1007/s10689-025-00515-2

Genes

CDKN2A

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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