Skip to main content

Table 5 Mutations or variations in other breast cancer susceptibility genes 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 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]