Prevalence and spectrum of variants in homologous recombination repair genes in ovarian cancer in Latin America: a systematic review and meta-analysis.

BRCA1, BRCA2

Germline pathogenic or likely pathogenic variants in homologous recombination repair genes: mostly BRCA1 and BRCA2, with CHEK2, BARD1 and RAD51D in a minority

This systematic review and meta-analysis, registered on PROSPERO (CRD420251019706), synthesises the prevalence of germline pathogenic or likely pathogenic variants in homologous recombination repair genes among patients with ovarian cancer in Latin America. Seven databases were searched up to April 2025; eight studies (2017-2023, 442 patients from Brazil, Argentina, Mexico, Chile and Colombia) were included, seven of which (433 patients, 96 carriers) were retained for the prevalence analysis after variant curation and reclassification under the 2025 ACMG/AMP guidelines. The pooled prevalence was 17% (95% CI 9-26%; I²=56.2%), rising to 20% (95% CI 16-23%; I²=0%) after excluding two micro-cohorts. BRCA1 (55.2%) and BRCA2 (40.6%) accounted for about 96% of carriers, non-BRCA variants (CHEK2, BARD1, RAD51D) for 4.2%, and five recurrent variants were found across several cohorts and countries. No study assessed somatic variants or homologous recombination deficiency assays.

Synthesis written by Geno'X. For the full original abstract, please refer to the source publication.

About one patient in five carries a germline variant: this yield alone justifies access to germline testing for all patients with ovarian cancer in the region. The non-BRCA share remains small (4.2%) and rests on few carriers, and the data come mainly from Brazil and Argentina, which limits regional representativeness. The five recurrent variants deserve to be used for variant interpretation in these populations.

Analysis by Dr Thibaut Benquey