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Beyond 1100delC: distinct CHEK2 variants and unique cancer phenotypes in Northeast Brazil.

Familial cancer - 6 Jan 2026

Noronha Mariana Macambira, Passos Pedro Robson Costa, Filho Valbert Oliveira Costa, Megid Thais Baccili Cury, de Lima Fernanda Teresa, Maia Danielle Calheiros Campelo

Abstract excerpt

The CHEK2 gene confers a moderate risk for breast cancer, but existing knowledge is largely based on the European founder variant, 1100delC. This study aimed to characterize the distinct phenotypes associated with unique CHEK2 variants in Brazilian families. In this cross-sectional study, 1055 patients meeting criteria for Hereditary Breast and Ovarian Cancer syndrome underwent germline multigene panel testing....

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Identifiers

PMID: 41493663
DOI: 10.1007/s10689-025-00526-z

Genes

CHEK2

Provenance

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

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