A common pathogenic founder variant in Rwandan breast cancer cases.

A shared BRCA1 frameshift pathogenic variant, c.4065_4068del (p.Asn1355Lysfs*10), is recurrent in 175 Rwandan breast cancer cases, found in 7 carriers (4%).

• Why it matters: Limited germline data from African populations makes it hard to characterize population-specific BRCA1/2 pathogenic variants and to design effective testing and prevention strategies.
• What they did: Using whole-exome sequencing and haplotype/network analyses of the 7 carriers, investigators identified a shared ~581 kb ancestral block and estimated a founder event 4,000–10,000 years ago.
• The result: The founder haplotype is absent or extremely rare outside African and South Asian populations, supporting a pre-historical BRCA1 founder origin in Rwanda and enabling more targeted genetic testing and cascade screening.

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