Article

A Common Pathogenic Founder Variant in Rwandan Breast Cancer Cases

2026-05-29

Abstract excerpt

Germline data from African populations remain sparse, limiting characterization of population-specific BRCA1 /2 pathogenic variants. In a study of 175 Rwandan women with breast cancer, 7 unrelated carriers (4% of cases; 22% of pathogenic variant carriers) harbored the same BRCA1 frameshift variant, c.4065_4068del (p.Asn1355Lysfs*10), which is extremely rare in gnomAD yet recurrent in European, Asian, and Middle...

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Literature Corpus work: 89981c4a-9049-50d7-ae15-a51173f36120
DOI: 10.64898/2026.05.26.727861

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