Table 1.
Summary results from breast cancer candidate gene studies in Latin America showing a positive association with cancer risk (p ≤ 0.05).
| Country | Gene | Variant | Risk Genotype vs. Common Genotype | OR (95% CIs) p-Value |
Model | Design | Reference |
|---|---|---|---|---|---|---|---|
| FOXP3 | rs2232365A>G | AA vs. GG | 1.93 (1.01–3.66) p = 0 046 |
Controlled by age | 117 cases and 300 controls | Banin Hirata et al., 2017 [87] | |
| Brazil | MTHFR | rs1801133C>T | TT vs. (CC + CT) | 2.53 (1.08–5.93) p = 0.03 |
Adjusted for age, alcohol and smoking consumption, and BMI | 100 cases and 144 controls | Zara-Lopes et al., 2016 [88] |
| CYP1A1 | rs1048943A>G | (AG + GG) vs. AA | 1.50 (1.14–1.97) p = 0.004 |
Adjusted for age and ethnic origin | 742 cases and 742 controls | Oliveira et al., 2015 [89] | |
| IL-18 | rs1946518C>A | CC vs AA | 2.78 (1.39–5.59) p = 0.004 |
Adjusted for age and BMI | 154 cases and 118 controls | Back et al., 2014 [90] | |
| rs187238G>C | (GG + GC) vs. CC | 3.89 (1.43–10.64) p = 0.008 |
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| GSTM1 | rs366631C>T | −/− vs. (+/− and +/+) | 2.40 (1.1–5.6) p =0.04 |
Not adjusted | 49 cases and 49 controls | Possuelo et al., 2013 [91] | |
| miR-196a2 | rs11614913C>T | (TC+ TT) vs. CC | 1.50 (CI not provided) p = 0.014 |
Adjusted for age, race, menarche age, menopausal status, smoking habits, and first-degree breast cancer family history | 388 cases and 388 controls | Linhares et al., 2012 [92] | |
| Chile | pre-mir-423 | rs6505162C>A | AA vs. CC | 1.70 (1.0–2.0) p = 0.05 |
In families with at least three BC and/or OC cases | 440 cases a and 807 controls | Morales at al., 2016 [93] |
| pre-mir-618 | rs2682818C>A | CA vs. CC | 1.60 (1.0 − 2.4) p = 0.04 |
In families with a single case, diagnosed at ≤ 50 years of age | |||
| pre-mir-27a | rs895819A>G | GG vs. AA | 0.30 (0.1–0.8) p = 0.01 |
In families with 2 BC and/or OC cases | |||
| PALB2 | rs152451A>G | AG vs. AA | 2.0 (1.2–3.1) p < 0.01 |
In families with at least three BC and/or OC cases | 436 cases a and 809 controls | Leyton et al., 2015 [94] | |
| rs45551636C>T | CT vs. CC | 3.0 (1.2–6.8) p < 0.01 |
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| TOX3 | rs3803662C>T | TT vs. CC | 2.38 (1.44–3.90) p = 0.0003 |
In families with at least 2 BC and/or OC cases | 344 cases a and 801 controls | Elematore et al., 2014 [95] | |
| 2q35 | rs13387042 G>A | AA vs. GG | 1.99 (1.25–3.14) p = 0.0015 |
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| FGFR2 | rs2981582C>T | CT vs. CC | 2.00 (1.26–3.23) p = 0.002 |
In families with a single case, diagnosed at ≤ 50 years of age | 351 cases a and 802 controls | Jara et al., 2013 [96] | |
| rs2420946C>T | TT vs. CC | 2.05 (1.16–3.63) p = 0.009 |
|||||
| rs1219648A>G | GG vs. AA | 2.06 (1.16–3.66)p = 0.011 | |||||
| MAP3K1 | rs889312A>C | CC vs. AA | 1.96 (1.13–3.37) p = 0.016 |
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| BARD1 | rs28997576C>G | CG vs.CC | 3.4 (1.2–10.2) p = 0.04 |
In families with at least three BC and/or OC cases | 322 cases a and 570 controls | Gonzalez-Hormazabal et al., 2012 [97] | |
| XRCC3 | rs861539C>T | TT vs. CC | 3.2 (1.40–1.72) p = 0.006 |
In families with at least three BC and/or OC cases | |||
| TT vs. CC | 2.44 (1.34–4.43) p = 0.003 |
Not adjusted | 267 cases a and 500 controls | Jara et al., 2010 [98] | |||
| ATM | rs1801516G>A | (GA + AA) vs. GG | 2.52 (1.33–4.77) p = 0.008 |
Not adjusted | 42 cases a and 200 controls | Tapia et al., 2008 [99] | |
| rs1801516G>A | GA vs. GG | 1.74 (0.96–3.16) p = 0.048 |
Not adjusted | 126 cases a and 200 controls | Gonzalez-Hormazabal et al., 2008 [100] | ||
| IVS24-9delT | T(-T) vs. TT | 1.74 (0.96–3.16) p = 0.048 |
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| IVS38-8T>C | TC vs. TT | 3.09 (1.11–8.59) p = 0.024 |
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| RAD51 | rs1801320G>C | (GC + CC) vs. GG | 2.17 (1.11–4.24)p = 0.020 | In patients <50 years at diagnosis | 143 cases a and 247 controls | Jara et al., 2007 [101] | |
| Ecuador | AKT1 | rs3803304C>G | GG vs. CC | 5.20 (1.3–20.9) p ≤ 0.05 |
Not adjusted | 91 cases 185 controls | Lopez-Cortes et al., 2018 [102] |
| MTHFR | rs1801133C>T | TT vs. CC | 2.9 (1.2–7.2) p = 0.025 |
Not adjusted | 114 cases and 195 controls | Lopez-Cortes et al., 2015 [103] | |
| Mexico | RETN | rs1862513C>G | (CG + GG) vs. CC | 1.62 (1.025–2.557) p = 0.03791 |
Not adjusted | 100 cases and 308 controls | Muñoz-Palomeque et al., 2018 [104] |
| CAP1 | rs35749351G>A | (GA + AA) vs. GG | 2.19 (1.075–4.475) p = 0.0277 |
Not adjusted | |||
| ABCB1 | rs1045642C>T | CC vs. TT | 2.91 (1.48–5.74) p = 0.001 |
Not adjusted | 243 cases and 118 controls | Jaramillo-Rangel et al., 2018 [105] | |
| CT vs. CC | 2.27 (1.11–4.67) p = 0.023 |
In premenopausal women | 248 cases and 180 controls | Gutierrez-Rubio et al., 2015 [106] | |||
| CYP1B1 | rs1056827G>T | TT vs. GG | 1.21 (0.85–1.72) p = 0.04 |
Adjusted for age, years of education, first-degree relative with breast cancer, age at first full-term pregnancy, breastfeeding at first birth, consumption of alcohol and tobacco, and genetic ancestry (Native American, European, and African). | 952 cases and 998 controls * | Garcia-Martinez et al., 2017 [107] | |
| GSTM1 | rs366631C>T | TT vs. (CC + CT) | 1.30 (1.02–1.8) p = 0.04 |
Not adjusted | 558 cases and 276 controls | Soto-Quintana et al., 2015 [108] | |
| TT vs. (CC + CT) | 2.19 (1.50–3.21) p = 0.001 |
Not adjusted | 243 cases and 118 controls | Jaramillo-Rangel et al., 2015 [109] | |||
| MTHFR | rs1801133C>T | TT vs. CC | 2.50 (1.6–3.8) p = 0.0001 |
Not adjusted | 497 cases and 339 controls | Ramos-Silva et al., 2015 [110] | |
| CBS | 844ins68 | (−/+) vs. (−/−) | 2.2 (1.5–3.3) p = 0.0001 |
Not adjusted | 323 cases and 371 controls | Gallegos-Arreola et al., 2014 [111] | |
| ATM | IVS24-9delT | T(-T) vs. TT | 3.02 (1.24–7.30) p = 0.0122 |
Not adjusted | 94 cases and 97 controls | Calderón-Zúñiga et al., 2014 [112] | |
| GSTP1 | rs1695A>G | GG vs. AA | 3.28 (1.44–7.50) p = 0.005 |
In premenopausal women | 150 cases and 382 controls | Martinez-Ramirez et al., 2013 [113] | |
| eNOS | 4a/b polymorphism | ab vs. bb | 2.0 (1.3–3.1) p = 0.001 |
Not adjusted | 429 cases and 281 controls | Ramírez-Patiño et al., 2013 [114] | |
| CYP1A1 | rs1048943A>G | GG vs. AA | 2.77 (1.30–5.89) p = 0.009 |
In premenopausal women | 150 cases and 382 controls | Martinez-Ramirez et al., 2013 [113] | |
| rs4646903T>C | CC vs. TT | 3.38 (1.05–10.87) p = 0.041 |
In postmenopausal women | 91 cases and 94 controls | Moreno-Galvan et al., 2010 [115] | ||
| FGFR2 | rs2981582C>T | TT vs. CC | 1.69 (1.25–2.27) p = 0.001 |
Adjusted by design for place of residence, health service institution membership, and 5-year age interval | 687 cases and 907 controls * | Murillo-Zamora et al., 2013 [116] | |
| Puerto Rico | RAD23B | rs1805329C>T | TT vs. (CT + CC) | 3.14 (1.65–5.97) p < 0.001 |
Adjusted for age, civil status, education level, and contraceptive use | 228 cases and 418 controls | Perez-Mayoral et al., 2013 [117] |
CI: confidence interval; BC: breast cancer; BMI: body mass index; OC: ovarian cancer; OR: odds ratio. a Patients were tested for BRCA1/2 mutations. * Population-based controls.