Background: Pathogenic germline mutations in the BRCA1 and BRCA2 (BRCA1/2) genes contribute to hereditary breast/ovarian cancer (OC) in White/mestizo Colombian women. As there is virtually no genetic data on breast cancer (BC) in Colombians of African descent, we conducted a comprehensive BRCA1/2 mutational analysis of 60 Afro-Colombian families affected by breast/OC.
Materials And Methods: Mutation screening of the complete BRCA1/2 genes for small-scale mutations and large genomic alterations was performed in these families using next-generation sequencing and multiplex ligation-dependent probe amplification analysis.
Colombia is experiencing an epidemiologic transition, with an increasing incidence of cancerous neoplasms prevalent in high-income countries, while infection-associated tumors remain highly prevalent. According to international standards, Colombia has a deficit of radiotherapy machines (a shortage of about 47 machines) and radiation oncology specialists (a shortage of about 19 to 149 specialists based on number of centers and incident cases, respectively) to meet the national demand, which may induce an inappropriate dynamic in radiation oncology services. Estimates based on cancer incidence trends and the rate of new specialists in radiation oncology expected to graduate per year suggest that the current deficit will remain unchanged or may even increase during the next decades.
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