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One in eight of 1,136 Nigerian women with breast cancer carried an inherited mutation in BRCA1, BRCA2, PALB2 or TP53; nearly half of the tumours with receptor data were triple-negative, and BRCA1 carriers were the youngest and most often triple-negative.
1,136 women with invasive breast cancer in Ibadan (mean age 47.5) and 997 controls were sequenced with the BROCA panel regardless of age, family history or prior testing. 86.1% of 577 staged patients presented at stage III or IV and 45.9% of 290 with receptor data had TNBC. 14.7% carried a loss-of-function mutation in a breast cancer gene: BRCA1 7.0%, BRCA2 4.1%, PALB2 1.0%, TP53 0.4% and 2.1% in ten other genes. Odds ratios were 23.4 for BRCA1 and 10.3 for BRCA2, with PALB2 (11 cases, no controls) and TP53 (5 cases, no controls) also significant. BRCA1 carriers were younger and more likely to have TNBC.
West Africa carries the highest germline burden reported for an unselected breast cancer population, and the genes are the same ones that predispose to TNBC elsewhere, so limited genetic services there should start with these families.
Shares PALB2, Germline BRCA mutation (gBRCA), BRCA1 / BRCA2 (HRD), Germline (hereditary) testing.
Shares Germline BRCA mutation (gBRCA), BRCA1 / BRCA2 (HRD), Germline (hereditary) testing, Breast cancer (all types).
Shares Germline BRCA mutation (gBRCA), BRCA1 / BRCA2 (HRD), Breast cancer (all types), Triple-negative breast cancer (TNBC).
Shares PALB2, Germline BRCA mutation (gBRCA), BRCA1 / BRCA2 (HRD), TP53.
Shares Germline BRCA mutation (gBRCA), BRCA1 / BRCA2 (HRD), Germline (hereditary) testing, Journal of Clinical Oncology.
Shares Germline BRCA mutation (gBRCA), BRCA1 / BRCA2 (HRD), Triple-negative breast cancer (TNBC).
Shares Germline BRCA mutation (gBRCA), BRCA1 / BRCA2 (HRD), Germline (hereditary) testing, Triple-negative breast cancer (TNBC).
Shares BRCA1 / BRCA2 (HRD), Germline (hereditary) testing, Journal of Clinical Oncology, Triple-negative breast cancer (TNBC).