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Cancer spectrum in Mexican patients with the CHEK2 p.(Leu236Pro) variant: a retrospective study.

Familial cancer - 17 Sept 2025

Flores-Lagunes L Leonardo, Alvarez-Gómez Rosa María, Molina-Garay Carolina, Jimenez-Olivares Marco, Acosta-Mendez Pablo Arturo, García-Solorio Joaquin, Prida-Riba Sebastián, Carillo-Sanchez Karol, Mendoza-Caamal Elvia Cristina, De la Fuente-Hernández Marcela Angélica, Fragoso-Ontiveros Verónica Zoraya, Reyes Casarrubias Rodrigo Estefano, Alaez-Verson Carmen

Abstract excerpt

This study aimed to characterize, for the first time, the cancer spectrum associated with the most frequent pathogenic CHEK2 variant-NM_007194.4(CHEK2):c.707T > C p.(Leu236Pro)-in Mexican individuals. Although this variant is frequently detected through multi-gene panel testing, limited data on its associated cancer risks complicates genetic counseling and surveillance strategies. We retrospectively analyzed...

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Breast Neoplasms
Checkpoint Kinase 2
Genetic Predisposition to Disease

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Genetic Testing

Neoplastic Syndromes, Hereditary

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Identifiers

PMID: 40960710
DOI: 10.1007/s10689-025-00490-8
PMCID: PMC12443877

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CHEK2

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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