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High Prevalence of Non-BRCA Pathogenic Variants and a Recurrent PALB2 Variant in an Argentine Hereditary Breast and Ovarian Cancer Cohort.

Cancer medicine - 1 Apr 2026

Martin Claudia Alejandra, Bono Catalina, Mandrile Juliana, Kunst Christine Susana Mercedes, Borello Adriana Elizabeth, Ávila Rodolfo, Salazar Florencia Celeste, Miretti Virginia, Pabletich Florencia, Andreoli Verónica, Ceschin Danilo Guillermo

Abstract excerpt

Hereditary breast and ovarian cancer (HBOC) syndromes are strongly associated with germline pathogenic variants. While genetic testing historically focused on BRCA1/2, multigene panels have revealed clinically relevant variants in numerous non-BRCA genes. However, data on the spectrum and prevalence of these variants remain limited in Argentina, particularly in regions with distinctive admixture patterns. This...

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Source

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Identifiers

PMID: 42011088
DOI: 10.1002/cam4.71846
PMCID: PMC13096714

Genes

PALB2
ATM
BRCA1
CHEK2
MUTYH
TP53

Variants

Provenance

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

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