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Among 190 Mexican women diagnosed with triple-negative breast cancer at 50 or under, 23% carried a BRCA mutation, nearly all in BRCA1, and a single large deletion founder mutation accounted for 41% of them.
190 women with TNBC diagnosed at age 50 or less at a single Mexico City hospital, unselected for family history, were screened for 115 recurrent BRCA mutations reported in Hispanic women including the Mexican founder large rearrangement BRCA1 ex9-12del. A mutation was detected in 44 (23%): 43 in BRCA1 and one in BRCA2. Seven mutations accounted for 39 patients (89%); the founder BRCA1 ex9-12del was found 18 times (41% of mutations).
A recurrent-mutation panel catches most carriers in Mexican TNBC at a fraction of the cost of full sequencing, and the large-rearrangement founder allele is missed by sequencing-only assays that do not test for deletions.
Shares Breast cancer research and treatment, Germline BRCA mutation (gBRCA), BRCA1 / BRCA2 (HRD), Triple-negative breast cancer (TNBC).
Shares Breast cancer research and treatment, Germline BRCA mutation (gBRCA), BRCA1 / BRCA2 (HRD), Triple-negative breast cancer (TNBC).
Shares Breast cancer research and treatment, Triple-negative breast cancer (TNBC).
Shares Breast cancer research and treatment, BRCA1 / BRCA2 (HRD), Triple-negative breast cancer (TNBC).
Shares Germline BRCA mutation (gBRCA), BRCA1 / BRCA2 (HRD), Triple-negative breast cancer (TNBC).
Shares Germline BRCA mutation (gBRCA), BRCA1 / BRCA2 (HRD), Triple-negative breast cancer (TNBC).
Shares Germline BRCA mutation (gBRCA), BRCA1 / BRCA2 (HRD), Triple-negative breast cancer (TNBC).
Shares BRCA1 / BRCA2 (HRD), Triple-negative breast cancer (TNBC).