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Landscape of Germline Mutations in DNA Repair Genes for Breast Cancer in Latin America: Opportunities for PARP-Like Inhibitors and Immunotherapy

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Tecnologico de Monterrey, Escuela de Medicina y Ciencias de la Salud, Monterrey 64710, Mexico
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Tecnologico de Monterrey, Centro de Cancer de Mama, Hospital Zambrano Hellion, San Pedro Garza Garcia, 66278, Mexico
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Instituto Nacional de Cancerologia, Departamento de Investigacion, Av. San Fernando #22, Tlalpan, Ciudad de Mexico 14080, Mexico
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Author to whom correspondence should be addressed.
Genes 2019, 10(10), 786; https://doi.org/10.3390/genes10100786
Received: 10 September 2019 / Revised: 28 September 2019 / Accepted: 4 October 2019 / Published: 10 October 2019
(This article belongs to the Section Human Genomics and Genetic Diseases)
Germline mutations in BRCA1 and BRCA2 (BRCA1/2) genes are present in about 50% of cases of hereditary breast cancer. Proteins encoded by these genes are key players in DNA repair by homologous recombination (HR). Advances in next generation sequencing and gene panels for breast cancer testing have generated a large amount of data on gene variants implicated in hereditary breast cancer, particularly in genes such as PALB2, ATM, CHEK2, RAD51, MSH2, and BARD1. These genes are involved in DNA repair. Most of these variants have been reported for Caucasian, Jewish, and Asian population, with few reports for other communities, like those in Latin American (LA) countries. We reviewed 81 studies from 11 LA countries published between 2000 and 2019 but most of these studies focused on BRCA1/2 genes. In addition to these genes, breast cancer-related variants have been reported for PALB2, ATM, CHEK2, BARD1, MLH1, BRIP1, MSH2, NBN, MSH6, and PMS2 genes. Some of these variants are unique to LA populations. This analysis may contribute to enhance breast cancer variant characterization, and thus to find therapies and implement precision medicine for LA communities.
Keywords: breast cancer; BRCA1; BRCA2; DNA repair; Latin America; germline; PARP inhibitors therapy breast cancer; BRCA1; BRCA2; DNA repair; Latin America; germline; PARP inhibitors therapy
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Urbina-Jara, L.K.; Rojas-Martinez, A.; Martinez-Ledesma, E.; Aguilar, D.; Villarreal-Garza, C.; Ortiz-Lopez, R. Landscape of Germline Mutations in DNA Repair Genes for Breast Cancer in Latin America: Opportunities for PARP-Like Inhibitors and Immunotherapy. Genes 2019, 10, 786.

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