Table 2 Cohort characteristics and pathogenic BRAC1 and BRAC2 mutation in unselected breast cancer cases in Central and South American populations

Brazil

Unselected, but all of the patients postive for a BRCA mutation had a family history of BC

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

Colombia^b

Unselected for family history

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]

Colombia^c

Unselected for family history

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

Unselected for family history

11

c.3331_3334de lCAAG

11

c.5616_5620de lAGTAA

ND

ND

NS

NS

Hernández et al. [43]

18

c.5123C>A

Mexico

Unselected for family history

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

Unselected [85.3% with sporadic BC and 67.7% with early-onset BC (≤ 50 years of age)]

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

Peru^a

Unselected for family history

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

Peru^a

Unselected, but 39.39% of patients had a positive family history of BC and/or OC

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]