Germline Pathogenic Variants in Breast Cancer-Predisposing Genes Among Early-Onset Female and Male Breast Cancer in Ethiopia.

Germline pathogenic variants in breast cancer predisposition genes, including 2 potentially novel founder variants

One hundred women (aged 18–39) and men of all ages with breast cancer at Tikur Anbessa Specialized Hospital, Addis Ababa, underwent a 12-gene NGS panel. Among 89 participants with successful analysis, 23.6% carried a pathogenic variant: BRCA1 (n=7), BRCA2 (n=8), PALB2 (n=4), BARD1, PTEN, and ATM (n=1 each). Two potentially novel founder variants were identified (BRCA1 c.5278-864_5332+621del and PALB2 c.1169_1170del). This work is one of the first characterizations of hereditary breast cancer predisposition in sub-Saharan Africa.

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The 23.6% carrier rate is remarkably high, likely due to young patient selection and historical under-representation of African populations in predisposition studies. The two potentially founder BRCA1 and PALB2 variants warrant frequency studies in the Ethiopian population to assess public health impact.

Clinical impact: 2/3 · Evidence quality: 2/3 · Novelty: 2/2 · Sample size: 1/1 · Journal quality: 0/1 → Total: 7/10