Country | Cohort size | Selection criteria | BC susceptibility gene | References | |
---|---|---|---|---|---|

Gene | Mutation or variant | ||||

Brazil | 874 |
a) Family history of BC b) Unselected for family history | TP53 |
c.1010G>A (pathogenic mutation) Frequency: 8.23% | Giacomazzi et al. [85] |

Brazil | 120 |
a) BC diagnosed at ≤ 45 years of age (no family history of BC) b) BC diagnosed at ≤ 45 years of age; at least 1 close blood relative with breast/ovarian/fallopian tube/primary peritoneal cancer diagnosed at any age c) BC diagnosed at ≤ 50 years of age; at least 1 blood relative with breast/ovarian/fallopian tube/primary peritoneal cancer diagnosed at ≤ 50 years d) BC diagnosed at > 50 of age; at least 1 blood relative with breast/ovarian/fallopian tube/primary peritoneal cancer diagnosed at any age e) At least 2 relatives with primary BC diagnosed at < 50 years of age f) BC with a history of ovarian/fallopian tube/primary peritoneal cancer diagnosed at any age g) Ethnicity associated with a higher mutation frequency (e.g., Ashkenazi Jewish) h) Personal history of ovarian/fallopian tube/primary peritoneal cancer i) Personal history of male BC |
TP53 CHEK2 |
c.1010G>A (pathogenic mutation) Frequency: 2.5% c.1100delC Frequency: 0.83% | Silva et al. [31] |

Brazil | 348 | Female with BC diagnosed at < 45 years of age; no family history of the disease | TP53 | c.1010G>A (pathogenic mutation) Frequency: 12% | Andrade et al. [78] |

Brazil | 100 | Patient with BC; no family history of the disease | MTHFR | MTHFR c.677T (rs1801133) associated with increased BC risk | Zara-Lopes et al. [77] |

Brazil | 49 |
a) Women with family history of BC b) Women with no family history of BC | GSTM1 | Null GSTM1 associated with increased BC risk | Possuelo et al. [73] |

Chile | 143 |
a) At least 2 first-degree relatives with BC and/or OC diagnosed at any age (46.1%) b) At least 2 first- or second-degree relatives with BC diagnosedat < 50 years of age (22.7%) c) At least 1 relative with BC diagnosed at < 30 of age years (11.3%) d) At least a relative with bilateral BC e) At least 3 first- or second-degree relatives with BC; at least 1 diagnosed at < 40 years of age (5.7%) f) 3 or more different cancers (female or male BC, OC, prostate, pancreatic or larynx in non-smoking individuals) (5.7%) g) At least 1 relative with male BC diagnosed at any age; at least 1 relative with female BC diagnosed at any age | RAD51 | RAD51 135G>C associated with increased BC risk in BRCA1/2 negative women with a family history of BC and diagnosis at < 50 years of age | Jara et al. [81] |

Chile | 137 |
a) At least 2 relatives with BC b) At least 2 relatives with BC; at least 1 with diagnosis at < 40 years of age c) At least 2 relatives with BC; at least 1 relative with bilateral BC d) At least 3 relatives with BC e) At least 3 relatives with BC; at least 1 with diagnosis at < 40 years of age f) At least 3 relatives with BC; at least 1 male relative with BC g) At least 3 relatives with BC and/or OC h) Two family members with BC; at least one with both BC and OC i) At least 1 relative with BC diagnosed at < 31 years of age; male BC | ATM | IVS24-9delT IVS38-5557G>A all associated with increased BC risk | González-Hormazabal et al. [67] |

Chile | 322 |
a) At least 3 relatives with BC and/or OC b) 2 relatives with BC and/or OC c) At least 1 relative with BC diagnosed at ≤ 35 years of age d) At least 1 relative with BC diagnosed at ≤ 36–50 years of age | BARD1 | BARD1 Cys557Ser associated with increased BC risk | González-Hormazabal et al. [66] |

Chile | 351 |
a) At least 3 relatives with BC and/or OC b) 2 relatives with BC and/or OC c) At least 1 relative with BC diagnosed at ≤ 35 years of age d) At least 1 relative with BC diagnosed at ≤ 36–50 years of age |
FGFR2 MAP3K1 |
rs2981582, rs2420946 and rs1219648 All associated with increased BC risk rs889312 associated with increased BC risk | Jara et al. [92] |

Chile | 347 |
a) At least 3 relatives with BC and/or OC b) 2 relatives with BC and/or OC c) At least 1 relative with BC diagnosed at ≤ 35 years of age d) At least 1 relative with BC diagnosed at ≤ 36–50 years of age |
TOX3 2q35 |
rs3803662 associated with increased BC risk rs13387042 associated with increased BC risk | Elematore et al. [94] |

Chile | 436 |
a) At least 3 relatives with BC and/or OC b) 2 relatives with BC and/or OC c) At least 1 relative with BC diagnosed at ≤ 35 years of age d) At least 1 relative with BC diagnosed at ≤ 36–50 years of age | PALB2 | rs152451 and rs45551636 associated with increased BC risk in cases with strong family history of BC | Leyton et al. [95] |

Chile | 196 | BC patients belonging to a high-risk family | CHEK2 1100delC | Not detected | González-Hormazabal et al. [67] |

Ecuador | 114 | Unselected for family history of cancer | MTHFR | MTHFR c.677T (rs1801133) associated with increased BC risk | López-Cortes et al. [78] |

Mexico | 397 | Unselected for family history of cancer | XRCC1 | Arg399Gln associated with increased BC risk | Macías-Gómez et al. [91] |

Mexico | 559 | Unselected for family history of cancer | GSTM1 | Null GSTM1 associated with increased BC risk | Soto-Quintana et al. [69] |

Mexico | 243 | Unselected for family history of cancer | GSTM1 | Null GSTM1 associated with increased BC risk | Jaramillo- Rangel et al. [72] |

Mexico | 94 | Familial and/or early-onset BC | ATM | IVS24-9delT IVS38-5557G>A all associated with increased BC risk | Calderón-Zúñiga et al. [63] |

Mexico | 687 | Unselected for family history of cancer | FGR2 | rs2981582 associated with increased BC risk | Murillo-Zamora et al. [93] |

Peru | 105 |
a) Triple-negative BC b) Unselected for family history of cancer or age at diagnosis (but 39.39% had a family history of breast or ovarian cancer) |
BARD1 RAD51D |
c.334C>T (pathogenic) Frequency: 0.95% c.694C>T (pathogenic) Frequency: 0.95% | González-Rivera et al. [53] |