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I. Matos

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Open access 2026

Identification of a novel pathogenic germline variant in the BRCA2 gene in patients with hereditary breast and ovarian cancer syndrome

Introduction: Hereditary breast and ovarian cancer (HBOC) syndrome is associated with pathogenic variants in the BRCA1 and BRCA2 genes, which are essential for DNA repair and the maintenance of genomic integrity. Thousands of variants have been described in BRCA2, with more than 5,000 classified as pathogenic in public...

Andréa Moreira dos Santos, I. Matos, Paula Francinete Faustino da Silva et al. · 0 citations

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