Investigación genética del cáncer de mama hereditario en Latinoamérica y el Caribe: una revisión sistemática

Jackeline de Fátima Martínez González; Marianela Corriols Molina

doi:10.5377/rtu.v12i35.17003

Autores/as

Jackeline de Fátima Martínez González Universidad Nacional Autónoma de Nicaragua, Managua https://orcid.org/0000-0003-4725-9258
Marianela Corriols Molina Universidad Nacional Autónoma de Nicaragua, Managua https://orcid.org/0000-0002-3955-230X

DOI:

https://doi.org/10.5377/rtu.v12i35.17003

Palabras clave:

Cáncer de mama, Hereditario, América Latina, Caribe, BRCA1/2

Resumen

Objetivo: Identificar los países con estudios sobre cáncer de mama hereditario (CaMaH) en Latinoamérica y El Caribe (LAC) y la frecuencia de genes con variantes patogénicas (VP).

Método: Se utilizó el marco PRISMA 2020 como referencia para realizar una revisión sistemática de la literatura sobre el tema, utilizando un método explícito para recopilar y sintetizar los hallazgos de los estudios individuales, se incluyeron artículos científicos originales sobre CaMaH, publicados entre enero de 2002 y julio de 2021.

Resultados: Se encontraron 112 estudios genéticos sobre CaMa en 21 de 48 países y territorios de LAC (44%), 17 no habían sido incluidos en revisiones previas, ocho fueron primeras publicaciones, principalmente de Centro América y El Caribe. Más de la mitad de los países no han publicado estudios sobre CaMaH y un tercio no tienen ningún estudio sobre el tema. Los genes más frecuentemente reportados con VP fueron: BRCA2 (39.1% en Puerto Rico), BRCA1 (25% en Bahamas), Tp53 (8.6% en Brasil) y PALB2 (4.3% en Barbados).

Discusión: El estudio del CaMaH en LAC sigue siendo desigual, más hay avances importantes en número de países y estudios. Los genes BRCA1/2 son los más estudiados, seguidos PALB2 y TP53. Hay heterogeneidad en el diseño, tipo de población y genes estudiados, limitando establecer conclusiones generales. La frecuencia de genes con VP es diversa, en cada país y región. Es importante ampliar el cribado genético en la población en riesgo y fortalecer programas de atención nacionales.

Descargas

Los datos de descargas todavía no están disponibles.

Resumen
125

VISOR 0
HTML 0
PDF (English) 12
HTML (English) 1
PDF 71

Citas

Abud, J., Koehler-Santos, P., Ashton-Prolla, P., Prolla, J. C., & Study Group on Hereditary Breast and Colorectal Cancer (2012). CHEK2 1100DELC germline mutation: a frequency study in hereditary breast and colon cancer Brazilian families. Arquivos de gastroenterologia, 49(4), 273–278. https://doi.org/10.1590/s0004-28032012000400008 [PubMed]

Abugattas, J., Llacuachaqui, M., Allende, Y. S., Velásquez, A. A., Velarde, R., Cotrina, J., Garcés, M., León, M., Calderón, G., de la Cruz, M., Mora, P., Royer, R., Herzog, J., Weitzel, J. N., & Narod, S. A. (2015). Prevalence of BRCA1 and BRCA2 mutations in unselected breast cancer patients from Peru. Clinical genetics, 88(4), 371–375. https://doi.org/10.1111/cge.12505

Achatz, M. I., Olivier, M., Le Calvez, F., Martel-Planche, G., Lopes, A., Rossi, B. M., Ashton-Prolla, P., Giugliani, R., Palmero, E. I., Vargas, F. R., Da Rocha, J. C., Vettore, A. L., & Hainaut, P. (2007). The TP53 mutation, R337H, is associated with Li-Fraumeni and Li-Fraumeni-like syndromes in Brazilian families. Cancer letters, 245(1-2), 96–102. https://doi.org/10.1016/j.canlet.2005.12.039

Adaniel, C., Salinas, F., Donaire, J. M., Bravo, M. E., Peralta, O., Paredes, H., Aliaga, N., Sola, A., Neira, P., Behnke, C., Rodriguez, T., Torres, S., Lopez, F., & Hurtado, C. (2019). Non-BRCA1/2 Variants Detected in a High-Risk Chilean Cohort With a History of Breast and/or Ovarian Cancer. Journal of global oncology, 5, 1–14. https://doi.org/10.1200/JGO.18.00163

Akbari, M. R., Donenberg, T., Lunn, J., Curling, D., Turnquest, T., Krill-Jackson, E., Zhang, S., Narod, S. A., & Hurley, J. (2014). The spectrum of BRCA1 and BRCA2 mutations in breast cancer patients in the Bahamas. Clinical genetics, 85(1), 64–67. https://doi.org/10.1111/cge.12132

Alemar, B., Gregório, C., Herzog, J., Matzenbacher Bittar, C., Brinckmann Oliveira Netto, C., Artigalas, O., Schwartz, I. V. D., Coffa, J., Alves Camey, S., Weitzel, J., & Ashton-Prolla, P. (2017). BRCA1 and BRCA2 mutational profile and prevalence in hereditary breast and ovarian cancer (HBOC) probands from Southern Brazil: Are international testing criteria appropriate for this specific population?. PloS one, 12(11), e0187630. https://doi.org/10.1371/journal.pone.0187630

Almeida, B. C., Kleine, J. P., Camargo-Kosugi, C. M., Lisboa, M. R., França, C. N., França, J. P., & Silva, I. D. (2016). Analysis of polymorphisms in codons 11, 72 and 248 of TP53 in Brazilian women with breast cancer. Genetics and molecular research : GMR, 15(1), 10.4238/gmr.15017055. https://doi.org/10.4238/gmr.15017055

Alvarez, C., Tapia, T., Perez-Moreno, E., Gajardo-Meneses, P., Ruiz, C., Rios, M., Missarelli, C., Silva, M., Cruz, A., Matamala, L., Carvajal-Carmona, L., Camus, M., & Carvallo, P. (2017). BRCA1 and BRCA2 founder mutations account for 78% of germline carriers among hereditary breast cancer families in Chile. Oncotarget, 8(43), 74233–74243. https://doi.org/10.18632/oncotarget.18815

Andrade, K. C., Santiago, K. M., Fortes, F. P., Mambelli, L. I., Nóbrega, A. F., & Achatz, M. I. (2016). Early-onset breast cancer patients in the South and Southeast of Brazil should be tested for the TP53 p.R337H mutation. Genetics and molecular biology, 39(2), 199–202. https://doi.org/10.1590/1678-4685-GMB-2014-0343

Ashton-Prolla, P., & Vargas, F. R. (2014). Prevalence and impact of founder mutations in hereditary breast cancer in Latin America. Genetics and molecular biology, 37(1 Suppl), 234–240. https://doi.org/10.1590/s1415-47572014000200009

Assumpção, J. G., Seidinger, A. L., Mastellaro, M. J., Ribeiro, R. C., Zambetti, G. P., Ganti, R., Srivastava, K., Shurtleff, S., Pei, D., Zeferino, L. C., Dufloth, R. M., Brandalise, S. R., & in southern Brazil. BMC cancer, 8, 357. https://doi.org/10.1186/1471-2407-8-357

Bagherzadeh, M., Szymiczek, A., Donenberg, T., Butler, R., Hurley, J., Narod, S. A., & Akbari, M. R. (2020). Association of RAD51C germline mutations with breast cancer among Bahamians. Breast cancer research and treatment, 184(2), 649–651. https://doi.org/10.1007/s10549-020-05872-3

Briceño-Balcázar, I., Gómez-Gutiérrez, A., Díaz-Dussán, N. A., Noguera-Santamaría, M. C., Díaz-Rincón, D., & Casas-Gómez, M. C. (2017). Mutational spectrum in breast cancer associated BRCA1 and BRCA2 genes in Colombia. Colombia médica (Cali, Colombia), 48(2), 58–63. Disponible en https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5625557/

Buleje, J.L., Huaman, F., Guevara-Fujita, M., Acosta, O., Pinto, J.A., Araujo, J., Ponce, J., León, J., Lizaraso, F., Gómez, H., Aguilar, A., Fujita, R., & Vigil, C. (2015) Detección de reordenamientos genómicos en los genes BRCA1 y BRCA2 en 16 familias peruanas con cáncer de mama mediante Amplificación de Sondas dependiente de Ligamiento Múltiple (MLPA). Carcinos, 5(2):34–38. Disponible en: https://sisbib.unmsm.edu.pe/bvrevistas/carcinos/v5n2_2015/pdf/a02v05n2.pdf

Buleje, J., Guevara-Fujita, M., Acosta, O., Huaman, F. D. P., Danos, P., Murillo, A., Pinto, J. A., Araujo, J. M., Aguilar, A., Ponce, J., Vigil, C., Castaneda, C., Calderon, G., Gomez, H. L., & Fujita, R. (2017). Mutational analysis of BRCA1 and BRCA2 genes in Peruvian families with hereditary breast and ovarian cancer. Molecular genetics & genomic medicine, 5(5), 481–494. https://doi.org/10.1002/mgg3.301

Calderón-Garcidueñas, A. L., Ruiz-Flores, P., Cerda-Flores, R. M., & Barrera-Saldaña, H. A. (2005). Clinical follow up of mexican women with early onset of breast cancer and mutations in the BRCA1 and BRCA2 genes. Salud pública de Mexico, 47(2), 110–115. https://doi.org/10.1590/s0036-36342005000200004

Calderón-Zúñiga, F.delC., Ocampo-Gómez, G., López-Márquez, F. C., Recio-Vega, R., Serrano-Gallardo, L. B., & Ruiz-Flores, P. (2014). ATM polymorphisms IVS24-9delT, IVS38-8T>C, and 5557G>A in Mexican women with familial and/or early-onset breast cancer. Salud publica de Mexico, 56(2), 206–212. https://doi.org/10.21149/spm.v56i2.7336

Carraro, D. M., Koike Folgueira, M. A., Garcia Lisboa, B. C., Ribeiro Olivieri, E. H., Vitorino Krepischi, A. C., de Carvalho, A. F., de Carvalho Mota, L. D., Puga, R. D., do Socorro Maciel, M., Michelli, R. A., de Lyra, E. C., Grosso, S. H., Soares, F. A., Achatz, M. I., Brentani, H., Moreira-Filho, C. A., & Brentani, M. M. (2013). Comprehensive analysis of BRCA1, BRCA2 and TP53 germline mutation and tumor characterization: a portrait of early-onset breast cancer in Brazil. PloS one, 8(3), e57581. https://doi.org/10.1371/journal.pone.0057581

Cerretini, R., Mercado, G., Morganstein, J., Schiaffi, J., Reynoso, M., Montoya, D., Valdéz, R., Narod, S. A., & Akbari, M. R. (2019). Germline pathogenic variants in BRCA1, BRCA2, PALB2 and RAD51C in breast cancer women from Argentina. Breast cancer research and treatment, 178(3), 629–636. https://doi.org/10.1007/s10549-019-05411-9

Chavarri-Guerra, Y., Blazer, K. R., & Weitzel, J. N. (2017). Genetic Cancer Risk Assessment for Breast Cancer in Latin America. Revista de investigación clinica; organo del Hospital de Enfermedades de la Nutrición, 69(2), 94–102. https://doi.org/10.24875/ric.17002195

Cifuentes-C, L., Rivera-Herrera, A. L., & Barreto, G. (2019). BRCA1 and BRCA2 mutations in a sample of breast and ovarian cancer families from the Colombian pacific. Colombia médica (Cali, Colombia), 50(3), 163–175.https://doi.org/10.25100/cm.v50i3.2385

Cipriano, N. M., Jr, de Brito, A. M., de Oliveira, E. S., de Faria, F. C., Lemos, S., Rodrigues, A. N., de Oliveira Lopes, D., & Dos Santos, L. L. (2019). Mutation screening of TP53, CHEK2 and BRCA genes in patients at high risk for hereditary breast and ovarian cancer (HBOC) in Brazil. Breast cancer (Tokyo, Japan), 26(3), 397–405.https://doi.org/10.1007/s12282-018-00938-z

Cock-Rada, A.M., Ossa, C.A., Garcia, H.I. et al. A multi-gene panel study in hereditary breast and ovarian cancer in Colombia. Familial Cancer 17, 23–30 (2018).https://doi.org/10.1007/s10689-017-0004-z

Cortés, C., Rivera, A. L., Trochez, D., Solarte, M., Gómez, D., Cifuentes, L., & Barreto, G. (2019). Mutational analysis of BRCA1 and BRCA2 genes in women with familial breast cancer from different regions of Colombia. Hereditary cancer in clinical practice, 17, 20.https://doi.org/10.1186/s13053-019-0120-x

Cury, N. M., Ferraz, V. E., & Silva, W. A., Jr (2014). TP53 p.R337H prevalence in a series of Brazilian hereditary breast cancer families. Hereditary cancer in clinical practice, 12(1), 8.https://doi.org/10.1186/1897-4287-12-8

da Costa, E. C., Vargas, F. R., Moreira, A. S., Lourenço, J. J., Caleffi, M., Ashton-Prolla, P., & Martins Moreira, M. A. (2008). Founder effect of the BRCA1 5382insC mutation in Brazilian patients with hereditary breast ovary cancer syndrome. Cancer genetics and cytogenetics, 184(1), 62–66. https://doi.org/10.1016/j.cancergencyto.2008.03.011

de Oliveira, E. S., Soares, B. L., Lemos, S., Rosa, R. C., Rodrigues, A. N., Barbosa, L. A., de Oliveira Lopes, D., & dos Santos, L. L. (2016). Screening of the BRCA1 gene in Brazilian patients with breast and/or ovarian cancer via high-resolution melting reaction analysis. Familial cancer, 15(2), 173–181. https://doi.org/10.1007/s10689-015-9858-0

de Souza Timoteo, A. R., Gonçalves, A. É. M. M., Sales, L. A. P., Albuquerque, B. M., de Souza, J. E. S., de Moura, P. C. P., de Aquino, M. A. A., Agnez-Lima, L. F., & Lajus, T. B. P. (2018). A portrait of germline mutation in Brazilian at-risk for hereditary breast cancer. Breast cancer research and treatment, 172(3), 637–646. https://doi.org/10.1007/s10549-018-4938-0

Delgado, L., Fernández, G., Grotiuz, G., Cataldi, S., González, A., Lluveras, N., Heguaburu, M., Fresco, R., Lens, D., Sabini, G., & Muse, I. M. (2011). BRCA1 and BRCA2 germline mutations in Uruguayan breast and breast-ovarian cancer families. Identification of novel mutations and unclassified variants. Breast cancer research and treatment, 128(1), 211–218.https://doi.org/10.1007/s10549-010-1320-2

Della, A., Acevedo, C., Esperón, P., Neffa F., Artagaveytia, N., Santander, G., Menini, M., Vergara, C., Carusso, F., & Sapone. M. (2017). Cáncer de mama y ovario hereditario en Uruguay. Méd. Urug, 33:40–52. 33(2):102-7. http://revista.rmu.org.uy/ojsrmu311/index.php/rmu/article/view/112/99

Diaz-Zabala, H. J., Ortiz, A. P., Garland, L., Jones, K., Perez, C. M., Mora, E., Arroyo, N., Oleksyk, T. K., Echenique, M., Matta, J. L., Dean, M., & Dutil, J. (2018). A Recurrent BRCA2 Mutation Explains the Majority of Hereditary Breast and Ovarian Cancer Syndrome Cases in Puerto Rico. Cancers, 10(11), 419.https://doi.org/10.3390/cancers10110419

Dillenburg, C. V., Bandeira, I. C., Tubino, T. V., Rossato, L. G., Dias, E. S., Bittelbrunn, A. C., & Leistner-Segal, S. (2012). Prevalence of 185delAG and 5382insC mutations in BRCA1, and 6174delT in BRCA2 in women of Ashkenazi Jewish origin in southern Brazil. Genetics and molecular biology, 35(3), 599–602. https://doi.org/10.1590/S1415-47572012000400009

Donenberg, T., Ahmed, H., Royer, R., Zhang, S., Narod, S. A., George, S., Akbari, M. R., Ali, J., & Hurley, J. (2016). A Survey of BRCA1, BRCA2, and PALB2 mutations in women with breast cancer in Trinidad and Tobago. Breast cancer research and treatment, 159(1), 131–138.https://doi.org/10.1007/s10549-016-3870-4

Donenberg, T., Lunn, J., Curling, D., Turnquest, T., Krill-Jackson, E., Royer, R., Narod, S. A., & Hurley, J. (2011). A high prevalence of BRCA1 mutations among breast cancer patients from the Bahamas. Breast cancer research and treatment, 125(2), 591–596. https://doi.org/10.1007/s10549-010-1156-9

Dufloth, R. M., Costa, S., Schmitt, F., & Zeferino, L. C. (2005). DNA repair gene polymorphisms and susceptibility to familial breast cancer in a group of patients from Campinas, Brazil. Genetics and molecular research : GMR, 4(4), 771–782. [PubMed]

Dufloth, R. M., Carvalho, S., Heinrich, J. K., Shinzato, J. Y., dos Santos, C. C., Zeferino, L. C., & Schmitt, F. (2005). Analysis of BRCA1 and BRCA2 mutations in Brazilian breast cancer patients with positive family history. Sao Paulo medical journal = Revista paulista de medicina, 123(4), 192–197. https://doi.org/10.1590/s1516-31802005000400007

Dutil, J., Teer, J. K., Golubeva, V., Yoder, S., Tong, W. L., Arroyo, N., Karam, R., Echenique, M., Matta, J. L., & Monteiro, A. N. (2019). Germline variants in cancer genes in high-risk non-BRCA patients from Puerto Rico. Scientific reports, 9(1), 17769.https://doi.org/10.1038/s41598-019-54170-6

Dutil, J., Colon-Colon, J. L., Matta, J. L., Sutphen, R., & Echenique, M. (2012). Identification of the prevalent BRCA1 and BRCA2 mutations in the female population of Puerto Rico. Cancer genetics, 205(5), 242–248. https://doi.org/10.1016/j.cancergen.2012.04.002

Elematore, I., Gonzalez-Hormazabal, P., Reyes, J. M., Blanco, R., Bravo, T., Peralta, O., Gomez, F., Waugh, E., Margarit, S., Ibañez, G., Romero, C., Pakomio, J., Roizen, G., Di Capua, G. A., & Jara, L. (2014). Association of genetic variants at TOX3, 2q35 and 8q24 with the risk of familial and early-onset breast cancer in a South-American population. Molecular biology reports, 41(6), 3715–3722. https://doi.org/10.1007/s11033-014-3236-0

Esteves, V. F., Thuler, L. C., Amêndola, L. C., Koifman, R. J., Koifman, S., Frankel, P. P., Vieira, R. J., & Brazilian Network of Breast and Ovarian Familial Cancer Aggregation (2009). Prevalence of BRCA1 and BRCA2 gene mutations in families with medium and high risk of breast and ovarian cancer in Brazil. Brazilian journal of medical and biological research = Revista brasileira de pesquisas medicas e biologicas, 42(5), 453–457. https://doi.org/10.1590/s0100-879x2009000500009

Ewald, I. P., Cossio, S. L., Palmero, E. I., Pinheiro, M., Nascimento, I. L., Machado, T. M., Sandes, K. A., Toralles, B., Garicochea, B., Izetti, P., Pereira, M. L., Bock, H., Vargas, F. R., Moreira, M. Â., Peixoto, A., Teixeira, M. R., & Ashton-Prolla, P. (2016). BRCA1 and BRCA2 rearrangements in Brazilian individuals with Hereditary Breast and Ovarian Cancer Syndrome. Genetics and molecular biology, 39(2), 223–231. https://doi.org/10.1590/1678-4685-GMB-2014-0350

Ewald, I. P., Izetti, P., Vargas, F. R., Moreira, M. A., Moreira, A. S., Moreira-Filho, C. A., Cunha, D. R., Hamaguchi, S., Camey, S. A., Schmidt, A., Caleffi, M., Koehler-Santos, P., Giugliani, R., & Ashton-Prolla, P. (2011). Prevalence of the BRCA1 founder mutation c.5266dupin Brazilian individuals at-risk for the hereditary breast and ovarian cancer syndrome. Hereditary cancer in clinical practice, 9(1), 12. https://doi.org/10.1186/1897-4287-9-12

Felix, G. E., Abe-Sandes, C., Machado-Lopes, T. M., Bomfim, T. F., Guindalini, R. S., Santos, V. C., Meyer, L., Oliveira, P. C., Cláudio Neiva, J., Meyer, R., Romeo, M., Betânia Toralles, M., Nascimento, I., & Abe-Sandes, K. (2014). Germline mutations in BRCA1, BRCA2, CHEK2 and TP53 in patients at high-risk for HBOC: characterizing a Northeast Brazilian Population. Human genome variation, 1, 14012. https://doi.org/10.1038/hgv.2014.12

Fernández, G. C., Michelli, R. A., Galvão, H. C., Paula, A. E., Pereira, R., Andrade, C. E., Felicio, P. S., Souza, C. P., Mendes, D. R., Volc, S., Berardinelli, G. N., Grasel, R. S., Sabato, C. S., Viana, D. V., Mauad, E. C., Scapulatempo-Neto, C., Arun, B., Reis, R. M., & Palmero, E. I. (2016). Prevalence of BRCA1/BRCA2 mutations in a Brazilian population sample at-risk for hereditary breast cancer and characterization of its genetic ancestry. Oncotarget, 7(49), 80465–80481.https://doi.org/10.18632/oncotarget.12610

Fernández-Lopez, J. C., Romero-Córdoba, S., Rebollar-Vega, R., Alfaro-Ruiz, L. A., Jiménez-Morales, S., Beltrán-Anaya, F., Arellano-Llamas, R., Cedro-Tanda, A., Rios-Romero, M., Ramirez-Florencio, M., Bautista-Piña, V., Dominguez-Reyes, C., Villegas-Carlos, F., Tenorio-Torres, A., & Hidalgo-Miranda, A. (2019). Population and breast cancer patients' analysis reveals the diversity of genomic variation of the BRCA genes in the Mexican population. Human genomics, 13(1), 3. https://doi.org/10.1186/s40246-018-0188-9

Gallardo, M., Faúndez, P., Cruz, A., Rodríguez, M., Álvarez, M., & Carvallo, P. (2004). Determinación de una mutación en el gen BRCA1 en una familia que presenta cáncer de mama hereditario [Determination of a BRCA1 gene mutation in a family with hereditary breast cancer]. Revista médica de Chile, 132(2), 203–210. https://doi.org/10.4067/s0034-98872004000200010

Gallardo, M., Silva, A., Rubio, L., Álvarez, C., Torrealba, C., Salinas, M., Tapia, T., Faundez, P., Palma, L., Riccio, M. E., Paredes, H., Rodríguez, M., Cruz, A., Rousseau, C., King, M. C., Camus, M., Álvarez, M., & Carvallo, P. (2006). Incidence of BRCA1 and BRCA2 mutations in 54 Chilean families with breast/ovarian cancer, genotype-phenotype correlations. Breast cancer research and treatment, 95(1), 81–87. https://doi.org/10.1007/s10549-005-9047-1

Gallardo-Alvarado, L. N., Tusié-Luna, M. T., Tussié-Luna, M. I., Díaz-Chávez, J., Segura, Y. X., Bargallo-Rocha, E., Villarreal, C., Herrera-Montalvo, L. A., Herrera-Medina, E. M., & Cantu-de Leon, D. F. (2019). Prevalence of germline mutations in the TP53 gene in patients with early-onset breast cancer in the Mexican population. BMC cancer, 19(1), 118.https://doi.org/10.1186/s12885-019-5312-2

García-Jiménez, L., Gutiérrez-Espeleta, G., & Narod, S. A. (2012). Epidemiología descriptiva y genética molecular del cáncer de mama hereditario en Costa Rica [Descriptive epidemiology and molecular genetics of hereditary breast cancer in Costa Rica]. Revista de biologia tropical, 60(4), 1663–1668. Disponible en: https://www.scielo.sa.cr/pdf/rbt/v60n4/a23v60n4.pdf

Garritano, S., Gemignani, F., Palmero, E. I., Olivier, M., Martel-Planche, G., Le Calvez-Kelm, F., Brugiéres, L., Vargas, F. R., Brentani, R. R., Ashton-Prolla, P., Landi, S., Tavtigian, S. V., Hainaut, P., & Achatz, M. I. (2010). Detailed haplotype analysis at the TP53 locus in p.R337H mutation carriers in the population of Southern Brazil: evidence for a founder effect. Human mutation, 31(2), 143–150. https://doi.org/10.1002/humu.21151

George, S. H. L., Donenberg, T., Alexis, C., DeGennaro, V., Jr, Dyer, H., Yin, S., Ali, J., Butler, R., Chin, S. N., Curling, D., Lowe, D., Lunn, J., Turnquest, T., Wharfe, G., Cerbon, D., Barreto-Coelho, P., Schlumbrecht, M. P., Akbari, M. R., Narod, S. A., & Hurley, J. E. (2021). Gene Sequencing for Pathogenic Variants Among Adults with Breast and Ovarian Cancer in the Caribbean. JAMA network open, 4(3), e210307.https://doi.org/10.1001/jamanetworkopen.2021.0307

Giacomazzi, J., Koehler-Santos, P., Palmero, E. I., Graudenz, M. S., Rivero, L. F., Lima, E., Pütten, A. C., Hainaut, P., Camey, S. A., Michelli, R. D., Neto, C. S., Fitarelli-Kiehl, M., Geyer, G., Meurer, L., Geiger, A., Azevedo, M. B., da Silva, V. D., & Ashton-Prolla, P. (2013). A TP53 founder mutation, p.R337H, is associated with phyllodes breast tumors in Brazil. Virchows Archiv : an international journal of pathology, 463(1), 17–22. https://doi.org/10.1007/s00428-013-1439-8

Giacomazzi, J., Graudenz, M. S., Osorio, C. A., Koehler-Santos, P., Palmero, E. I., Zagonel-Oliveira, M., Michelli, R. A., Scapulatempo Neto, C., Fernandes, G. C., Achatz, M. I., Martel-Planche, G., Soares, F. A., Caleffi, M., Goldim, J. R., Hainaut, P., Camey, S. A., & Ashton-Prolla, P. (2014). Prevalence of the TP53 p.R337H mutation in breast cancer patients in Brazil. PloS one, 9(6), e99893. https://doi.org/10.1371/journal.pone.0099893

Giacomazzi, J., Graudenz, M. S., Osorio, C. A., Koehler-Santos, P., Palmero, E. I., Zagonel-Oliveira, M., Michelli, R. A., Scapulatempo Neto, C., Fernandes, G. C., Achatz, M. I., Martel-Planche, G., Soares, F. A., Caleffi, M., Goldim, J. R., Hainaut, P., Camey, S. A., & Ashton-Prolla, P. (2014). Prevalence of the TP53 p.R337H mutation in breast cancer patients in Brazil. PloS one, 9(6), e99893.https://doi.org/10.1371/journal.pone.0099893

Gomes, M. C., Kotsopoulos, J., de Almeida, G. L., Costa, M. M., Vieira, R., Filho, F.deA., Pitombo, M. B., F Leal, P. R., Royer, R., Zhang, P., & Narod, S. A. (2012). The R337H mutation in TP53 and breast cancer in Brazil. Hereditary cancer in clinical practice, 10(1), 3. https://doi.org/10.1186/1897-4287-10-3

Gomes, M. C., Costa, M. M., Borojevic, R., Monteiro, A. N., Vieira, R., Koifman, S., Koifman, R. J., Li, S., Royer, R., Zhang, S., & Narod, S. A. (2007). Prevalence of BRCA1 and BRCA2 mutations in breast cancer patients from Brazil. Breast cancer research and treatment, 103(3), 349–353. https://doi.org/10.1007/s10549-006-9378-6

Gómez-Díaz, B., DE LA Luz Ayala-Madrigal, M., Gutiérrez-Angulo, M., Valle-Solis, A. E., Linares-González, L. M., González-Guzmán, R., Cruz-Guillén, D., Cedeño-Garcidueñas, A. L., Canto, P., & López-Hernández, L. B. (2015). Analysis of ERCC1 and ERCC2 gene variants in osteosarcoma, colorectal and breast cancer. Oncology letters, 9(4), 1657–1661. https://doi.org/10.3892/ol.2015.2894

González-Hormazábal, P., Bravo, T., Blanco, R., Valenzuela, C. Y., Gómez, F., Waugh, E., Peralta, O., Ortuzar, W., Reyes, J. M., & Jara, L. (2008). Association of common ATM variants with familial breast cancer in a South American population. BMC cancer, 8, 117. https://doi.org/10.1186/1471-2407-8-117

González-Hormazábal, P., Castro, V. G., Blanco, R., Gómez, F., Peralta, O., Waugh, E., Bravo, T., Reyes, J. M., & Jara, L. (2008). Absence of CHEK2 1100delC mutation in familial breast cancer cases from a South American population. Breast cancer research and treatment, 110(3), 543–545. https://doi.org/10.1007/s10549-007-9743-0

González-Hormazabal, P., Gutierrez-Enriquez, S., Gaete, D. et al. Spectrum of BRCA1/2 point mutations and genomic rearrangements in high-risk breast/ovarian cancer Chilean families. Breast Cancer Res Treat 126, 705–716 (2011).https://doi.org/10.1007/s10549-010-1170-y

González-Hormazabal, P., Reyes, J. M., Blanco, R., Bravo, T., Carrera, I., Peralta, O., Gomez, F., Waugh, E., Margarit, S., Ibañez, G., Santos, J. L., & Jara, L. (2012). The BARD1 Cys557Ser variant and risk of familial breast cancer in a South-American population. Molecular biology reports, 39(8), 8091–8098. https://doi.org/10.1007/s11033-012-1656-2

Gutiérrez Espeleta, G. A., Llacuachaqui, M., García-Jiménez, L., Aguilar Herrera, M., Loáiciga Vega, K., Ortiz, A., Royer, R., Li, S., & Narod, S. A. (2012). BRCA1 and BRCA2 mutations among familial breast cancer patients from Costa Rica. Clinical genetics, 82(5), 484–488.https://doi.org/10.1111/j.1399-0004.2011.01774.x

Hahn, E. C., Bittar, C. M., Vianna, F. S. L., Netto, C. B. O., Biazús, J. V., Cericatto, R., Cavalheiro, J. A., de Melo, M. P., Menke, C. H., Rabin, E., Leistner-Segal, S., & Ashton-Prolla, P. (2018). TP53 p.Arg337His germline mutation prevalence in Southern Brazil: Further evidence for mutation testing in young breast cancer patients. PloS one, 13(12), e0209934. https://doi.org/10.1371/journal.pone.0209934

Hernández, J. E., Llacuachaqui, M., Palacio, G. V., Figueroa, J. D., Madrid, J., Lema, M., Royer, R., Li, S., Larson, G., Weitzel, J. N., & Narod, S. A. (2014). Prevalence of BRCA1 and BRCA2 mutations in unselected breast cancer patients from medellín, Colombia. Hereditary cancer in clinical practice, 12(1), 11.https://doi.org/10.1186/1897-4287-12-11

Jara, L., Acevedo, M. L., Blanco, R., Castro, V. G., Bravo, T., Gómez, F., Waugh, E., Peralta, O., Cabrera, E., Reyes, J. M., Ampuero, S., & González-Hormazábal, P. (2007). RAD51 135G>C polymorphism and risk of familial breast cancer in a South American population. Cancer genetics and cytogenetics, 178(1), 65–69. https://doi.org/10.1016/j.cancergencyto.2007.05.024

Jara, L., Ampuero, S., Santibáñez, E., Seccia, L., Rodríguez, J., Lay-Son, M. B., Ojeda, J. M., Reyes, J. M., & Blanco, R. (2004). Molecular analysis of the eighteen most frequent mutations in the BRCA1 gene in 63 Chilean breast cancer families. Biological research, 37(3), 469–481. https://doi.org/10.4067/s0716-97602004000300011

Jara, L., Ampuero, S., Santibáñez, E., Seccia, L., Rodríguez, J., Bustamante, M., Martínez, V., Catenaccio, A., Lay-Son, G., Blanco, R., & Reyes, J. M. (2006). BRCA1 and BRCA2 mutations in a South American population. Cancer genetics and cytogenetics, 166(1), 36–45. https://doi.org/10.1016/j.cancergencyto.2005.08.019

Jara, L., Ampuero, S., Seccia, L., Bustamante, M., Blanco, R., & Ojeda, J. M. (2002). Analysis of 5382insC (BRCA1) and 6174delT (BRCA2) mutations in 382 healthy Chilean women with a family history of breast cancer. Biological research, 35(1), 85–93. https://doi.org/10.4067/s0716-97602002000100011

Jara, L., Ampuero, S., Seccia, L., Bustamante, M., Blanco, R., Santibáñez, E., Reyes, J. M., & Ojeda, J. M. (2002). Frecuencia de la mutación 185delAG en el gen BRCA1 en mujeres chilenas sanas con antecedentes familiares de cáncer de mama [Frequency of the 185delAG mutation in the BRCA1 gene in Chilean healthy women with family history of breast cancer]. Revista médica de Chile, 130(10), 1113–1123.

Jara, L., Dubois, K., Gaete, D., de Mayo, T., Ratkevicius, N., Bravo, T., Margarit, S., Blanco, R., Gómez, F., Waugh, E., Peralta, O., Reyes, J. M., Ibáñez, G., & González-Hormazábal, P. (2010). Variants in DNA double-strand break repair genes and risk of familial breast cancer in a South American population. Breast cancer research and treatment, 122(3), 813–822. https://doi.org/10.1007/s10549-009-0709-2

Jara, L., González-Hormazabal, P., Cerceño, K., Di Capua, G. A., Reyes, J. M., Blanco, R., Bravo, T., Peralta, O., Gomez, F., Waugh, E., Margarit, S., Ibañez, G., Romero, C., Pakomio, J., & Roizen, G. (2013). Genetic variants in FGFR2 and MAP3K1 are associated with the risk of familial and early-onset breast cancer in a South-American population. Breast cancer research and treatment, 137(2), 559–569. https://doi.org/10.1007/s10549-012-2359-z

Jara, L., Morales, S., de Mayo, T., González-Hormazabal, P., Carrasco, V., & Godoy, R. (2017). Mutations in BRCA1, BRCA2 and other breast and ovarian cancer susceptibility genes in Central and South American populations. Biological research, 50(1), 35.https://doi.org/10.1186/s40659-017-0139-2

Jaramillo-Rangel, G., Ortega-Martínez, M., Cerda-Flores, R. M., & Barrera-Saldaña, H. A. (2015). Polymorphisms in GSTM1, GSTT1, GSTP1, and GSTM3 genes and breast cancer risk in northeastern Mexico. Genetics and molecular research : GMR, 14(2), 6465–6471. https://doi.org/10.4238/2015.June.11.22

Lara, K., Consigliere, N., Pérez, J., & Porco, A. (2012). BRCA1 and BRCA2 mutations in breast cancer patients from Venezuela. Biological research, 45(2), 117–130. https://doi.org/10.4067/S0716-97602012000200003

Lerner-Ellis, J., Donenberg, T., Ahmed, H. et al. A high frequency of PALB2 mutations in Jamaican patients with breast cancer. Breast Cancer Res Treat 162, 591–596 (2017).https://doi.org/10.1007/s10549-017-4148-1

Leyton, Y., González-Hormazabal, P., Blanco, R., Bravo, T., Fernandez-Ramires, R., Morales, S., Landeros, N., Reyes, J. M., Peralta, O., Tapia, J. C., Gomez, F., Waugh, E., Ibañez, G., Pakomio, J., Grau, G., & Jara, L. (2015). Association of PALB2 sequence variants with the risk of familial and early-onset breast cancer in a South-American population. BMC cancer, 15, 30. https://doi.org/10.1186/s12885-015-1033-3

Llinás-Quintero, N., Cabrera-Florez, E., Mendoza-Fandiño, G., Matute-Turizo, G., Vasquez-Trespalacios, E. M., & Gallón-Villegas, L. J. (2019). Synchronous Ovarian and Breast Cancers with a Novel Variant in BRCA2 Gene: A Case Report. Case reports in oncological medicine, 2019, 6958952. https://doi.org/10.1155/2019/6958952

López-Cortés, A., Echeverría, C., Oña-Cisneros, F., Sánchez, M. E., Herrera, C., Cabrera-Andrade, A., Rosales, F., Ortiz, M., & Paz-Y-Miño, C. (2015). Breast cancer risk associated with gene expression and genotype polymorphisms of the folate-metabolizing MTHFR gene: a case-control study in a high altitude Ecuadorian mestizo population. Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine, 36(8), 6451–6461. https://doi.org/10.1007/s13277-015-3335-0

Lourenço, J. J., Vargas, F. R., Bines, J., Santos, E. M., Lasmar, C. A., Costa, C. H., ... & Moreira, M. A. (2004). BRCA1 mutations in Brazilian patients. Genetics and Molecular Biology, 27, 500-504. [Google Scholar]

Macías-Gómez, N. M., Peralta-Leal, V., Meza-Espinoza, J. P., Gutiérrez-Angulo, M., Durán-González, J., Ramírez-González, J. M., Gaspar-Del Toro, A., Norberto-Rodríguez, A., & Leal-Ugarte, E. (2015). Polymorphisms of the XRCC1 gene and breast cancer risk in the Mexican population. Familial cancer, 14(3), 349–354. https://doi.org/10.1007/s10689-015-9787-y

Mahdavi, M., Nassiri, M., Kooshyar, M. M., Vakili-Azghandi, M., Avan, A., Sandry, R., Pillai, S., Lam, A. K., & Gopalan, V. (2019). Hereditary breast cancer; Genetic penetrance and current status with BRCA. Journal of cellular physiology, 234(5), 5741–5750.https://doi.org/10.1002/jcp.27464

Maistro, S., Teixeira, N., Encinas, G., Katayama, M. L., Niewiadonski, V. D., Cabral, L. G., Ribeiro, R. M., Gaburo Junior, N., de Gouvêa, A. C., Carraro, D. M., Sabino, E. C., Diz, M. D., Chammas, R., de Bock, G. H., & Folgueira, M. A. (2016). Germline mutations in BRCA1 and BRCA2 in epithelial ovarian cancer patients in Brazil. BMC cancer, 16(1), 934. https://doi.org/10.1186/s12885-016-2966-x

Martínez, J., Muñoz, M., Corriols, M., Silva, R. (2021) Mutaciones genéticas asociadas a cáncer de mama hereditario en mujeres nicaragüenses. Salud y servicios sociales. [Citado 29 de agosto de 2021];10(29). DOI: https://doi.org/10.5377/rtu.v10i29.12735.

Murillo-Zamora, E., Moreno-Macías, H., Ziv, E., Romieu, I., Lazcano-Ponce, E., Angeles-Llerenas, A., Pérez-Rodríguez, E., Vidal-Millán, S., Fejerman, L., & Torres-Mejía, G. (2013). Association between rs2981582 polymorphism in the FGFR2 gene and the risk of breast cancer in Mexican women. Archives of medical research, 44(6), 459–466. https://doi.org/10.1016/j.arcmed.2013.08.006

Nahleh, Z., Otoukesh, S., Dwivedi, A. K., Mallawaarachchi, I., Sanchez, L., Saldivar, J. S., Cataneda, K., & Heydarian, R. (2014). Clinical and pathological characteristics of Hispanic BRCA-associated breast cancers in the American-Mexican border city of El Paso, TX. American journal of cancer research, 5(1), 466–471.

Ossa, C. A., & Torres, D. (2016). Founder and Recurrent Mutations in BRCA1 and BRCA2 Genes in Latin American Countries: State of the Art and Literature Review. The oncologist, 21(7), 832–839.https://doi.org/10.1634/theoncologist.2015-0416

Palmero, E. I., Alemar, B., Schüler-Faccini, L., Hainaut, P., Moreira-Filho, C. A., Ewald, I. P., Santos, P. K., Ribeiro, P. L., Oliveira, C. B., Calvez-Kelm, F. L., Tavtigian, S., Cossio, S. L., Giugliani, R., Caleffi, M., & Ashton-Prolla, P. (2016). Screening for germline BRCA1, BRCA2, TP53 and CHEK2 mutations in families at-risk for hereditary breast cancer identified in a population-based study from Southern Brazil. Genetics and molecular biology, 39(2), 210–222. 2016.https://doi.org/10.1590/1678-4685-GMB-2014-0363

Palmero, E. I., Carraro, D. M., Alemar, B., Moreira, M. A. M., Ribeiro-Dos-Santos, Â., Abe-Sandes, K., Galvão, H. C. R., Reis, R. M., de Pádua Souza, C., Campacci, N., Achatz, M. I., Brianese, R. C., da Cruz Formiga, M. N., Makdissi, F. B., Vargas, F. R., Evangelista Dos Santos, A. C., Seuanez, H. N., Lobo de Souza, K. R., Netto, C. B. O., Santos-Silva, P., … Ashton-Prolla, P. (2018). The germline mutational landscape of BRCA1 and BRCA2 in Brazil. Scientific reports, 8(1), 9188. https://doi.org/10.1038/s41598-018-27315-2

Palmero, E. I., Schüler-Faccini, L., Caleffi, M., Achatz, M. I., Olivier, M., Martel-Planche, G., Marcel, V., Aguiar, E., Giacomazzi, J., Ewald, I. P., Giugliani, R., Hainaut, P., & Ashton-Prolla, P. (2008). Detection of R337H, a germline TP53 mutation predisposing to multiple cancers, in asymptomatic women participating in a breast cancer screening program in Southern Brazil. Cancer letters, 261(1), 21–25. https://doi.org/10.1016/j.canlet.2007.10.044

Possuelo, L. G., Peraça, C. F., Eisenhardt, M. F., Dotto, M. L., Cappelletti, L., Foletto, E., & Valim, A. R. (2013). Polymorphisms of GSTM1 and GSTT1 genes in breast cancer susceptibility: a case-control study. Revista brasileira de ginecologia e obstetricia : revista da Federacao Brasileira das Sociedades de Ginecologia e Obstetricia, 35(12), 569–574. https://doi.org/10.1590/s0100-72032013001200007

Quezada Urban, R., Díaz Velásquez, C. E., Gitler, R., Rojo Castillo, M. P., Sirota Toporek, M., Figueroa Morales, A., Moreno García, O., García Esquivel, L., Torres Mejía, G., Dean, M., Delgado Enciso, I., Ochoa Díaz López, H., Rodríguez León, F., Jan, V., Garzón Barrientos, V. H., Ruiz Flores, P., Espino Silva, P. K., Haro Santa Cruz, J., Martínez Gregorio, H., Rojas Jiménez, E. A., … Vaca Paniagua, F. (2018). Comprehensive Analysis of Germline Variants in Mexican Patients with Hereditary Breast and Ovarian Cancer Susceptibility. Cancers, 10(10), 361.https://doi.org/10.3390/cancers10100361

Ren, M., Orozco, A., Shao, K., Albanez, A., Ortiz, J., Cao, B., Wang, L., Barreda, L., Alvarez, C. S., Garland, L., Wu, D., Chung, C. C., Wang, J., Frone, M., Ralon, S., Argueta, V., Orozco, R., Gharzouzi, E., & Dean, M. (2021). Germline variants in hereditary breast cancer genes are associated with early age at diagnosis and family history in Guatemalan breast cancer. Breast cancer research and treatment, 189(2), 533–539.https://doi.org/10.1007/s10549-021-06305-5

Rodrigues, M. S., Machado, C. A., Pagnoncelli, D., Avvad, E., Paixão, J. C., & Gallo, C. V. (2011). TP53 and XRCC1 polymorphisms and breast cancer prognosis: a case-case study. Clinics (Sao Paulo, Brazil), 66(6), 1097–1100. https://doi.org/10.1590/s1807-59322011000600030

Rodríguez, A. O., Llacuachaqui, M., Pardo, G. G., Royer, R., Larson, G., Weitzel, J. N., & Narod, S. A. (2012). BRCA1 and BRCA2 mutations among ovarian cancer patients from Colombia. Gynecologic oncology, 124(2), 236–243. https://doi.org/10.1016/j.ygyno.2011.10.027

Rodríguez, R. C., Esperon, A. A., Ropero, R., Rubio, M. C., Rodriguez, R., Ortiz, R. M., Anta, J. J., de los Rios, M., Carnesolta, D., del Olivera, M. C., Vansam, S. S., Royer, R., Akbari, M. R., Donenberg, T., & Narod, S. A. (2008). Prevalence of BRCA1 and BRCA2 mutations in breast cancer patients from Cuba. Familial cancer, 7(3), 275–279.https://doi.org/10.1007/s10689-008-9187-7

Ruiz-Flores, P., Sinilnikova, O. M., Badzioch, M., Calderon-Garcidueñas, A. L., Chopin, S., Fabrice, O., González-Guerrero, J. F., Szabo, C., Lenoir, G., Goldgar, D. E., & Barrera-Saldaña, H. A. (2002). BRCA1 and BRCA2 mutation analysis of early-onset and familial breast cancer cases in Mexico. Human mutation, 20(6), 474–475. https://doi.org/10.1002/humu.9084

Sanabria, M. C., Muñioz, G., & Vargas, C. I. (2009). Análisis de las mutaciones más frecuentes del gen BRCA1 (185delAG y 5382insC) en mujeres con cancer de mama en Bucaramanga, Colombia [Mutations in the BRCA1 gene (185delAG and 5382insC) are not present in any of the 30 breast cancer patients analyzed from eastern Colombia]. Biomedica : revista del Instituto Nacional de Salud, 29(1), 61–72.

Sanchez, A., Faundez, P., & Carvallo, P. (2011). Genomic rearrangements of the BRCA1 gene in Chilean breast cancer families: an MLPA analysis. Breast cancer research and treatment, 128(3), 845–853. https://doi.org/10.1007/s10549-011-1382-9

Silva, F. C., Lisboa, B. C., Figueiredo, M. C., Torrezan, G. T., Santos, E. M., Krepischi, A. C., Rossi, B. M., Achatz, M. I., & Carraro, D. M. (2014). Hereditary breast and ovarian cancer: assessment of point mutations and copy number variations in Brazilian patients. BMC medical genetics, 15, 55. https://doi.org/10.1186/1471-2350-15-55

Solano, A. R., Aceto, G. M., Delettieres, D., Veschi, S., Neuman, M. I., Alonso, E., Chialina, S., Chacón, R. D., Renato, M. C., & Podestá, E. J. (2012). BRCA1 and BRCA2 analysis of Argentinean breast/ovarian cancer patients selected for age and family history highlights a role for novel mutations of putative south American origin. SpringerPlus, 1, 20.https://doi.org/10.1186/2193-1801-1-20

Solano, A. R., Liria, N. C., Jalil, F. S., Faggionato, D. M., Mele, P. G., Mampel, A., Cardoso, F. C. y Podesta, E. J. (2018). Mutaciones BRCA1 y BRCA2 distintas de los alelos fundadores entre judíos asquenazíes en la población de Argentina. Fronteras en oncología, 8, 323.https://doi.org/10.3389/fonc.2018.00323

Solano, A. R., Cardoso, F. C., Romano, V., Perazzo, F., Bas, C., Recondo, G., Santillan, F. B., Gonzalez, E., Abalo, E., Viniegra, M., Michel, J. D., Nuñez, L. M., Noblia, C. M., Mc Lean, I., Canton, E. D., Chacon, R. D., Cortese, G., Varela, E. B., Greco, M., Barrientos, M. L., … Mando, O. G. (2016). Spectrum of BRCA1/2 variants in 940 patients from Argentina including novel, deleterious and recurrent germline mutations: impact on healthcare and clinical practice. Oncotarget, 8(36), 60487–60495.https://doi.org/10.18632/oncotarget.10814

Soto-Quintana, O., Zúñiga-González, G. M., Ramírez-Patiño, R., Ramos-Silva, A., Figuera, L. E., Carrillo-Moreno, D. I., Gutiérrez-Hurtado, I. A., Puebla-Pérez, A. M., Sánchez-Llamas, B., & Gallegos-Arreola, M. P. (2015). Association of the GSTM1 null polymorphism with breast cancer in a Mexican population. Genetics and molecular research : GMR, 14(4), 13066–13075. https://doi.org/10.4238/2015.October.26.2

Tapia, T., Sanchez, A., Vallejos, M., Alvarez, C., Moraga, M., Smalley, S., Camus, M., Alvarez, M., & Carvallo, P. (2008). ATM allelic variants associated to hereditary breast cancer in 94 Chilean women: susceptibility or ethnic influences?. Breast cancer research and treatment, 107(2), 281–288. https://doi.org/10.1007/s10549-007-9544-5

Torres, D., Rashid, M. U., Gil, F., Umana, A., Ramelli, G., Robledo, J. F., Tawil, M., Torregrosa, L., Briceno, I., & Hamann, U. (2007). High proportion of BRCA1/2 founder mutations in Hispanic breast/ovarian cancer families from Colombia. Breast cancer research and treatment, 103(2), 225–232. https://doi.org/10.1007/s10549-006-9370-1

Torres, D., Umaña, A., Robledo, J.F., Caicedo, J.J., Quintero, E., Orozco, A., Torregrosa, L., Tawil M., Hamman, U., & Briceño, I. Estudio de factores genéticos para cáncer de mama en Colombia. Univ Med, 50(3):297–301. [Google Scholar]

Torres, D., Bermejo, J. L., Rashid, M. U., Briceño, I., Gil, F., Beltran, A., Ariza, V., & Hamann, U. (2017). Prevalence and Penetrance of BRCA1 and BRCA2 Germline Mutations in Colombian Breast Cancer Patients. Scientific reports, 7(1), 4713.https://doi.org/10.1038/s41598-017-05056-y

Torres-Mejía, G., Royer, R., Llacuachaqui, M., Akbari, M. R., Giuliano, A. R., Martínez-Matsushita, L., Angeles-Llerenas, A., Ortega-Olvera, C., Ziv, E., Lazcano-Ponce, E., Phelan, C. M., & Narod, S. A. (2015). Recurrent BRCA1 and BRCA2 mutations in Mexican women with breast cancer. Cancer epidemiology, biomarkers & prevention: a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology, 24(3), 498–505.https://doi.org/10.1158/1055-9965.EPI-13-0980

Torrezan, G. T., de Almeida, F. G. D. S. R., Figueiredo, M. C. P., Barros, B. D. F., de Paula, C. A. A., Valieris, R., de Souza, J. E. S., Ramalho, R. F., da Silva, F. C. C., Ferreira, E. N., de Nóbrega, A. F., Felicio, P. S., Achatz, M. I., de Souza, S. J., Palmero, E. I., & Carraro, D. M. (2018). Complex Landscape of Germline Variants in Brazilian Patients With Hereditary and Early Onset Breast Cancer. Frontiers in genetics, 9, 161. https://doi.org/10.3389/fgene.2018.00161

Trottier, M., Lunn, J., Butler, R., Curling, D., Turnquest, T., Francis, W., et al. (2016) Prevalence of founder mutations in the BRCA1 and BRCA2 genes among unaffected women from the Bahamas. Clin Genet, 89 (3):328–31.https://doi.org/10.1111/cge.12602

Urbina-Jara, L. K., Rojas-Martinez, A., Martinez-Ledesma, E., Aguilar, D., Villarreal-Garza, C., & Ortiz-Lopez, R. (2019). Landscape of Germline Mutations in DNA Repair Genes for Breast Cancer in Latin America: Opportunities for PARP-Like Inhibitors and Immunotherapy. Genes, 10(10), 786. https://doi.org/10.3390/genes10100786

Vaca-Paniagua, F., Alvarez-Gomez, R. M., Fragoso-Ontiveros, V., Vidal-Millan, S., Herrera, L. A., Cantú, D., Bargallo-Rocha, E., Mohar, A., López-Camarillo, C., & Pérez-Plasencia, C. (2012). Full-exon pyrosequencing screening of BRCA germline mutations in Mexican women with inherited breast and ovarian cancer. PloS one, 7(5), e37432.https://doi.org/10.1371/journal.pone.0037432

Vargas, E., Torres Lopez, D. M., de Deugd, R., Gil, F., Nova, A., Mora, L., Viaña, L. F., Hernandez, J. D., Bruges, R., & Hamann, U. (2019). Low Prevalence of the Four Common Colombian Founder Mutations in BRCA1 and BRCA2 in Early-Onset and Familial Afro-Colombian Patients with Breast Cancer. The oncologist, 24(7), e475–e479.https://doi.org/10.1634/theoncologist.2018-0346

Vidal-Millán S, Taja-Chayeb L, Gutiérrez-Hernández O, Ramirez Ugalde MT, Robles-Vidal C, Bargallo-Rocha E, Mohar-Betancourt A, Dueñas-Gonzalez A. Mutational analysis of BRCA1 and BRCA2 genes in Mexican breast cancer patients. Eur J Gynaecol Oncol. 2009;30:527–530. [PubMed] [Google Scholar]

Villarreal-Garza, C., Álvarez-Gómez, R. M., Pérez-Plasencia, C., Herrera, L. A., Herzog, J., Castillo, D., Mohar, A., Castro, C., Gallardo, L. N., Gallardo, D., Santibáñez, M., Blazer, K. R., & Weitzel, J. N. (2015). Significant clinical impact of recurrent BRCA1 and BRCA2 mutations in Mexico. Cancer, 121(3), 372–378.https://doi.org/10.1002/cncr.29058

Villarreal-Garza, C., Weitzel, J. N., Llacuachaqui, M., Sifuentes, E., Magallanes-Hoyos, M. C., Gallardo, L., Alvarez-Gómez, R. M., Herzog, J., Castillo, D., Royer, R., Akbari, M., Lara-Medina, F., Herrera, L. A., Mohar, A., & Narod, S. A. (2015). The prevalence of BRCA1 and BRCA2 mutations among young Mexican women with triple-negative breast cancer. Breast cancer research and treatment, 150(2), 389–394.https://doi.org/10.1007/s10549-015-3312-8

Zayas-Villanueva, O. A., Campos-Acevedo, L. D., Lugo-Trampe, J. J., Hernández-Barajas, D., González-Guerrero, J. F., Noriega-Iriondo, M. F., Ramírez-Sánchez, I. A., & Martínez-de-Villarreal, L. E. (2019). Analysis of the pathogenic variants of BRCA1 and BRCA2 using next-generation sequencing in women with familial breast cancer: a case-control study. BMC cancer, 19(1), 722. https://doi.org/10.1186/s12885-019-5950-4