Exploring the Melanoma and Pancreatic Cancer Phenotype of a Potential CDKN2A Founder Variant, I49T (c.146T>C; p.Ile49Thr), in Individuals of Predominantly Mexican Ancestry.

doi:10.1200/PO-26-00083

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Exploring the Melanoma and Pancreatic Cancer Phenotype of a Potential CDKN2A Founder Variant, I49T (c.146T>C; p.Ile49Thr), in Individuals of Predominantly Mexican Ancestry.

JCO precision oncology - 1 Sept 2026

Hernandez Daisy, Browning Ashlie, Gemmell Amber, Lara-Otero Karlena, Niell-Swiller Mariana, Mersch Jacqueline, Mraz Kathryn A, Kamara Daniella, Blanco Amie, Cardona Yvonne, Chang Emmeline, Comeaux Jacob G, Culver Julie O, Ford James M, Gutierrez Natalia, Lester Jenny, Karlan Beth Y, Li Ming, Nie Qi, Resendiz Jesus, Wei Maria L, Ricker Charité N

Abstract excerpt

PURPOSE: Pathogenic/likely pathogenic variants (P/LPVs) in the CDKN2A gene cause an increased risk of melanoma (MEL) and pancreatic cancer (PANC). The CDKN2A variant I49T (c.146T>C), reported to be recurrent in Hispanics, has conflicting pathogenicity classifications at laboratories, affecting clinical care. Multiple genetics clinics collaborated to explore cancers associated with I49T. METHODS: Institutional...

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Topics

Humans
Pancreatic Neoplasms
Cyclin-Dependent Kinase Inhibitor p16

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Melanoma

Female

Male

Phenotype

Middle Aged

Mexican Americans

Aged

Adult

Source

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Identifiers

PMID: 42753217
DOI: 10.1200/PO-26-00083
PMCID: PMC13600356

Genes

CDKN2A

Variants

Provenance

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