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Table 1 Cohort characteristics and pathogenic BRAC1 and BRAC2 mutations in early-onset breast cancer in Central and South American populations

From: Mutations in BRCA1, BRCA2 and other breast and ovarian cancer susceptibility genes in Central and South American populations

Country Cohort size Inclusion criteria Number of mutations detected Pathogenic mutation in BC patients Recurrent mutation (frequency  %) Large genomic rearrangements References
BRCA1 BRCA2 BRCA1 BRCA2 BRCA1 BRCA2 BRCA1 BRCA2
Exon Mutation Exon Mutation
Brazil 54 a) Young
female patient with BC diagnosed at < 35 year of age
6 4 5 c.181T>G 11 c.2808_2811delACAA c.5266dupC (3.7%) ND NS NS Carraro et al. [13]
7 c.560+2T>A 11 c.2494C>T
b) Women with a family history of BC 11 c.2405_2406delTG 11 c.4968 ins GT
11 c.3331_3334delCAAG 11 c.5190T>A
20 c.5266dupC
20 c.5251C>T
Mexico 32 Early-onset BC patients (≤ 35 years) reporting no first or second-degree relatives with BC or OC 1 1 11 3587delT 11 c.519+5_519 + 8delGTAA ND ND NS NS Ruı́z-Flores et al. [48]
Mexico 22 Early-onset BC patients (≤ 35 years) with a family history of BC 1 1 11 3587delT 11 2664InsA ND ND NS NS Calderón-Garcidueñas et al. [49]
Mexico 810 Early-onset BC patients (≤ 40 years) reporting no first or second-degree relatives with BC or OC 6 2 9_12 c.548-?_4185+?del 10 c.1796-1800delTTTAT c.548-?_4185+?del (0.25%) ND   NS Torres-Mejia et al. [50]
11 c.2296-2297delAG 11 c.4111C>T
11 c.2433delC   
11 c.3598C>T   
11 c.4327C>T   
18 c.5123C>A   
  1. ND not detected, NS not studied, BC breast cancer