Author, Year Country |
BRCA Coverage |
Screening Method |
# of mutationsa |
N |
Study inclusion criteria |
Ref. |
BRCA1 |
BRCA2 |
Abugattas, 2014 Peru |
HISPANEL-114 mutations |
Sequencing |
4 |
1 |
266 |
unselected breast cancer patients, diagnosed at any age |
[49] |
Anton Culver, 2000 USA-Hispanics |
BRCA1: 185delAG, 5382insC, R1443X, int5-11T-G, R841W,4184delTCAA, 2594delC |
ASO |
0 |
N/A |
42 |
unselected breast cancer patients, greater than 18 years old |
[51] |
Carraro, 2011 Brazil |
BRCA1 and BRCA2: Allexons and adjacent intronic regions |
Sequencing |
8 |
10 |
54 |
unselected breast cancer patients, aged 35 years or younger at the time of diagnosis |
[33] |
Delgado, 2011 Uruguay |
BRCA1 and BRCA2: Allexons and adjacent intronic regions |
HDA, PTT, Sequencing |
7 |
14 |
42 |
1) at least three cases of female breast cancer with at least one of them diagnosed before the age of 50 2) two cases of female breast cancer at least one diagnosed before 50 years old and at least one of the following additional criteria: paternal transmission, bilateral breast cancer, ovarian cancer, male breast cancer. |
[50] |
Dufloth, 2005 Brazil |
BRCA1: exon 2, 3, 5, 11, 20 BRCA2: exon 10, 11" |
SSCP, sequencing |
1 |
2 |
31 |
1) early onset (at less than 45 years of age) and/or bilaterality 2) more than three cases of breast cancer and more than one case of ovarian cancer in the family 3) more than two first-degree relatives involved 4) male breast cancer |
[34] |
Esteves, 2009 Brazil |
BRCA1: exon 11 BRCA2: exon 10, 11 |
PTT, sequencing |
7 |
3 |
612 |
1) women with a history of two or more relatives with breast and/or ovarian cancer along three or more generations 2) two or more cases of breast and/or ovarian cancer in first-degree relatives 3) male relatives with breast cancer diagnosed under 35 years of age 4) cases of bilateral breast cancer |
[35] |
Ewald, 2011 Brazil |
BRCA1: 185delAG, 5382insC BRCA2: 6174delT |
PCR |
1 |
0 |
131 |
1) the American Society of Clinical Oncology (ASCO) criteria for HBOC 2) a prior probability of harboring a BRCA mutation ≥ 30% by pedigree analysis using the Myriad mutation prevalence tables or the Penn II mutation prediction model 3) Women diagnosed with bilateral breast cancer under the age of 50 years, regardless of family history |
[36] |
Gallardo, 2006 Chile |
BRCA1 and BRCA2: covering coding sequences and intron-exon boundaries (exons 2 to 24) |
PCR, SSCP, PTT, HDA, sequencing |
15 |
11 |
54 |
1) three cases of breast cancer in first degree relatives 2) two cases of breast cancer in first degree relatives, one diagnosed before age 40 3) one breast cancer and one ovarian cancer in first degree relatives |
[39] |
Garcia-Jimenez, 2012 Costa Rica |
BRCA1: exon 11 BRCA2: exon 10, 11 |
PTT |
1 |
2 |
116 |
1) least three individuals diagnosed with breast cancer at any age or ovarian cancer on one side of the family 2) at least two individuals diagnosed with breast cancer under the age of 50 on one side of the family |
[48] |
Gomes, 2007 Brazil |
BRCA1: exon 11 BRCA2: exon 10, 11 |
PTT, sequencing |
2 |
2 |
402 |
unselected breast cancer patients |
[37] |
Gonzalez-Hormazabal, 2011 Chile |
BRCA1 and BRCA2: Allexons and adjacent intronic regions |
CSGE, HDA, Sequencing |
30 |
25 |
326 |
1) Three or more family members with breast and/or ovarian cancer 2) Two family members with breast cancer 3) One family member with breast cancer and one with ovarian cancer 4) Single affected individual with breast cancer greater than or equal to age 35 5) Single affected individual with breast cancer greater than or equal to age 50 6) Single affected individual with male breast cancer |
[40] |
Hall, 2009 USA-Hispanics |
BRCA1 and BRCA2: Allexons and adjacent intronic regions |
Myraidb |
5 |
2 |
1936 |
Persons undergoing clinical full-sequence for BRCA1/2 mutations at Myraid Genetics Inc. from November 1996 to March 2006 |
[16] |
Hernandez, 2014 Colombia |
BRCA1: exon 11 BRCA2: exon 10, 11 |
PTT, sequencing |
2 |
1 |
244 |
unselected breast cancer patients, diagnosed at any age |
[43] |
John, 2007 USA-Hispanics |
BRCA1: All exons and adjacent intronic regions |
CSGE, 2DGS, Myraidb |
11 |
N/A |
393 |
A: patients whose cancers are likely to be hereditary 1) breast cancer diagnosis before age 35 years 2) bilateral breast cancer, with first diagnosis before age 50 years 3) prior ovarian or childhood cancer 4) at least 1 first-degree relative with breast or ovarian cancer. B: all other patients with cancers less likely to be hereditary |
[52] |
Judkins, 2012 USA-Hispanics |
BRCA1 and BRCA2: All Large genomic rearrangements |
multiplex PCR, Myraidb |
|
|
|
1) invasive or in situ breast cancer diagnosed under age 50 years, or ovarian cancer 2)male breast cancer diagnosed at any age, in conjunction with 2 or more relatives similarly affected 3) breast cancer patient with no deleterious mutation detected by BRCA1/2 sequencing |
[53] |
Lara, 2012 Venezuela |
BRCA1: All exons and adjacent intronic regions |
CSGE, sequencing |
24 |
30 |
58 |
1) early onset (less than 45 years of age) and/or bilaterality 2) more than three cases of breast cancer and more than one case of ovarian cancer in the family 3) more than two first-degree relatives affected 4) male breast cancer |
[17] |
Nahleh, 2015 Mexico |
BRCA1 and BRCA2: All exons and adjacent intronic regions |
Myraidb |
11 |
5 |
88 |
unselected breast cancer patients, diagnosed at any age |
[28] |
Ruiz-Flores, 2002 Mexico |
BRCA1 and BRCA2: All exons and adjacent intronic regions |
HDA, Sequencing |
3 |
7 |
51 |
1) breast cancer diagnosed at age 35 or younger, with no first or second-degree relatives affected with breast or ovarian cancer 2) two cases or more of breast cancer with at least one case diagnosed under 60 among first and second-degree relatives 3) one case of breast cancer under 60 and one case of ovarian cancer diagnosed at any age in first and second degree relatives 4) one case of female and one case of male breast cancer diagnosed at any age in first degree relatives |
[18] |
Sanabria, 2009 Colombia |
BRCA1: 185delAG, 5382insC |
PCR |
0 |
N/A |
30 |
1) Woman of any age with diagnostics of BC 2) With Family background in first or second degree 3) Woman with diagnostics of BC under 36 year’s old, Without Family background |
[44] |
Sanchez, 2011 Chile |
BRCA1 and BRCA2: only Large Genomic rearrangements |
MLPA |
2 |
0 |
74 |
1) three cases of breast cancer in first degree relatives 2) two cases of breast cancer in first degree relatives, one diagnosed before age 40 3) one breast cancer and one ovarian cancer in first degree relatives |
[41] |
Silva, 2014 Brazil |
BRCA1 and BRCA2: All exons and adjacent intronic regions |
Sequencing, MLPA |
18 |
6 |
120 |
1) Breast cancer diagnosed ≤45 years of age (no family history) 2) Breast cancer diagnosed ≤ 45 years of age with 1 or more close blood relative with breast/ovarian/fallopian tube/primary peritoneal cancer at any age 3) Breast cancer diagnosed <45 ≤ 50 years of age with 1 or more blood relative with breast/ovarian/fallopian tube/primary peritoneal cancer ≤ 50 years of age 4) Breast cancer diagnosed >50 of age with 1 or more blood relative with breast/ovarian/fallopian tube/primary peritoneal cancer at any age 5) Two primary BC when the first occurrence was prior to age 50 6) Breast cancer with a history of ovarian/ fallopian tube/primary peritoneal cancer at any age 7) For an individual with an ethnicity that is associated with a higher mutation frequency (e.g., Ashkenazi Jewish) 8) Personal history of ovarian/fallopian tube/primary peritoneal cancer 9) Personal history of male breast cancer |
[38] |
Solano, 2012 Argentina |
BRCA1 and BRCA2: All exons and adjacent intronic regions |
Sequencing |
36 |
23 |
134 |
1) diagnosis within 40 years of age and no BOC family history 2) diagnosis at any age with at least two BOC affected 1st or 2nd degree relatives |
[47] |
Torres, 2007 Colombia |
BRCA1 and BRCA2: All exons and adjacent intronic regions |
SSCP, PTT, DHPLC, sequencing |
4 |
9 |
44 |
1) one female breast cancer diagnosed at or before 35 years of age. 2) two cases of breast cancer diagnosed at any age. 3) three cases of breast cancer with at least one diagnosed at or before 50 years of age. 4) at least four breast cancers with as a minimum one diagnosed at or before 50 years of age. 5) at least one male breast cancer diagnosed at any age. 6) at least one female breast cancer and one or more ovarian cancers at any age |
[45] |
Torres, 2009 Colombia |
BRCA1: del exon 9-12 |
PCR |
0 |
N/A |
229 |
unselected breast cancer patients, diagnosed at any age |
[46] |
Torres-Mejia, 2014 Mexico |
"BRCA1: exon 10, 5382insC, del exon9-12, 185delAG R1443X, A1708E, C1787S & G1788D,
BRCA2: exon 10, 11 W2586X |
ARMS, CNV, MLPA, PTT, RFLP, sequencing |
8 |
11 |
810 |
unselected breast cancer patients, diagnosed at any age |
[29] |
Vaca-Paniagua, 2012 Mexico |
BRCA1 and BRCA2: All exons and adjacent intronic regions |
Pyrosequencing |
13 |
10 |
39 |
1) subjects with breast and/or ovarian cancer and with two or more first- or second-degree relatives with tumors associated with BRCA mutations were studied. 2) male breast cancer. 3) Subjects with early-onset breast cancer 4) subjects with breast and ovarian cancer |
[19] |
Vidal-Millan, 2009 Mexico |
BRCA1 and BRCA2: All exons and adjacent intronic regions |
PCR, DHPLC, sequencing |
8 |
6 |
40 |
1) BC diagnosis at age 40 or younger, with no first or second-degree relatives 2) at least 2 cases of BC and/or OV at any age in first-degree relatives. 3) one case of male BC diagnosed at any age in first-degree relatives. |
[30] |
Villarreal-Garza, 2015a Mexico |
HISPANEL = 115 mutations |
Sequencing |
10 |
1 |
190 |
Patients diagnosed with triple-negative breast cancer at age 50 years or younger. |
[31] |
Villarreal-Garza, 2015b Mexico |
HISPANEL = 114 mutations |
Pyrosequencing, sequencing, MPLA |
8 |
3 |
96 |
unselected breast cancer patients, diagnosed at any age |
[32] |
Vogel, 2007 USA-Hispanics |
BRCA1 and BRCA2: All exons and adjacent intronic regions |
Myraidb |
11 |
9 |
95 |
Subjects had a personal or family history of BC |
[20] |
Weitzel, 2013 USA-Hispanics |
BRCA1 and BRCA2: All exons and adjacent intronic regions |
Myraidb |
11 |
4 |
746 |
Subjects with a personal or family history of BC and/or OV |
[21] |