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Table 2 Cohort characteristics and pathogenic BRAC1 and BRAC2 mutation in unselected breast cancer cases 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 mutation detected Pathogenic mutation in BC patients Recurrent mutation (frequency %) Large genomic rearrangements (frequency %) References
BRCA1 BRCA2 BRCA1 BRCA2 BRCA1 BRCA2 BRCA1 BRCA2
Exon Mutation Exon Mutation
Brazil 402 Unselected, but all of the patients postive for a BRCA mutation had a family history of BC 2 2 11 c.3228_3229delAG 11 c.5946delT c.5266dupC (1.2%) c.6405_6409delCTTAA (0.5%) NS NS Gomes et al. [37]
20 c.5266dupC 11 c.640_6409delCTTAA
Colombiab 766 Unselected for family history 2 1 11 c.3331_3334delCAAG
c.5123C>A
11 c.2808_2811delACAA c.3331_3334de lCAAG (1.6%)
c.5123C>A (1.3%)
c.2808_2811delACAA (1.3%) NS NS Torres et al. [44]
Colombiac 96 Unselected for family history 3 2 11 c.3331_3334de lCAAG 11 c.6024dupG c.3331_3334de lCAAG (11.4) ND NS NS Rodrı́guez et al. [42]
11 c.1674_1674de lA 11 c.6024dupG
18 c.5123C>A
Colombia 244 Unselected for family history 2 1 11 c.3331_3334de lCAAG 11 c.5616_5620de lAGTAA ND ND NS NS Hernández et al. [43]
18 c.5123C>A
Mexico 188 Unselected for family history 14 6 2 70insAG 10 1803insA ND ND ex9-12del (6.9%) ND Villarreal-garza et al. [51]
2 c.68_69de lAG 11 2900de lCT ex8-9dup (1.1%)
5 c.211A>G 11 C.6024dupG ex18-19del (1.1%)
5 c.212+1G>A 11 6244de lG ex8-10del
11 c.798_799de lTT 11 c.6486_6489de lACAA
11 803de lA 25 c.9463_9467de I5in8
11 c.815_824dupAGCCATGTGG
11 c.2806_2809de lGATA
11 c.3759_3760de lTGAG
11 c.3858_3861de lTGAG
11 c.4065_4068de lTCAA
13 c.4327C>T
18 c.5095C>T
18 c.5123C>A
Mexico 810 Unselected [85.3% with sporadic BC and 67.7% with early-onset BC (≤ 50 years of age)] 8 11 9_12 c.548?_4185?de l 10 c.1796-1800de lTTTAT c.548?_4185?de I(1%) c.1796-1800de lTTTAT(0.37%) NS NS Torres-Mejia et al. [50]
11 c.1016-1017insA 11 c.2808_2811de lACAA c.2433de IC(0.25%) c.4111C>T
11 c.2071-2071de lA 11 2971de I5 c.4327C>T (0.25%)
11 c.2296-2297de lAG 11 c.3264_3265insT c.5123C>A (0.5%)
11 c.2433de lC 11 c.4111C>T  
11 c.3598C>T 11 4321insAA
13 c.4327C>T 11 4534de lAT
18 c.5123C>A 11 c.5542de lA
11
11
11
Perua 266 Unselected for family history 4 1 2 c.68_69de lAG 11 c.2808_2811de lACAA c.68_69de lAG (2.6%) c.2808_2811de lACAA (0.75%) NS NS Abugattas et al. [52]
11 c.815_824dupAGCCATGTGG    c.1961_1962de lA (0.75%)
11 c.1961_1962de lA
11 c.3759_3706de lTA
Perua 124 Unselected, but 39.39% of patients had a positive family history of BC and/or OC 5 2 2
11
11
17
c211A>G
c.4041_4042del
c.4065_4068de lTCAA
c.5074+1G>T
c.5091_5092del
11
16
c2455C>T
c.7673_7674de l
ND ND Del exon 18–19
Del exon 8–13
ND González-Rivera et al. [53]
  1. ND not detected, NS not studied, BC breast cancer
  2. aA panel of BRCA1 and BRCA2 mutation wa used
  3. bOnly mutations previously described by Torres et al. [41] were studied
  4. cA panel of 96 Hispanic BRCA mutation was used