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1.
Int J Legal Med ; 136(2): 565-567, 2022 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-34613462

RESUMO

With the advent of expanded STR (short tandem repeats) typing kits, it was necessary to determine allele frequencies and other appropriate population data parameters for El Salvador. Samples were collected from the central, east, and west regions of the country and typed for 21 forensically relevant STR loci. The data indicate that all loci are highly polymorphic, the three regions are genetically similar, and the population data are similar to those of US Hispanics. The results of this study support that the allele frequency data described herein can be used for statistical calculations for human identity testing in El Salvador.


Assuntos
Impressões Digitais de DNA , Genética Populacional , Frequência do Gene , Hispânico ou Latino , Humanos , Repetições de Microssatélites
2.
Isr Med Assoc J ; 16(12): 787-92, 2014 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-25630211

RESUMO

Breast cancer, specifically mammary carcinoma, is the most common cause of death from cancer in women worldwide, with a lifetime risk of one in nine, and its prevalence is increasing. It represents around 30% of all cancer in females and approximately 40,000 deaths in the United States per year. Important advances have been made in detection and treatment, but a significant number of breast cancers are still detected late. This summary of its epidemiology and history, the molecular aspects of detection and the main implicated genes emphasizes the etiology and heterogeneity of the disease. It is still not clear whether the remaining cases of breast cancer negative to BRCA are due to mutations in another high penetrance gene or to unknown factors yet to be discovered.


Assuntos
Neoplasias da Mama/genética , Genes BRCA1 , Genes BRCA2 , Neoplasias da Mama/epidemiologia , Feminino , Genes p53 , Heterogeneidade Genética , Mutação em Linhagem Germinativa , Humanos , Masculino , Penetrância , Prevalência , Medição de Risco
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