Frequency of mutations in the BRCA genes in women with a familial aggregation of mammary gland/ovarian cancer
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| Autores: | , , , , |
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| Formato: | artículo original |
| Estado: | Versión publicada |
| Fecha de Publicación: | 2016 |
| Descripción: | Objective: Collect evidence about the frequency variation of BRCA1 and BRCA2 mutations and family history in patients with mammary gland cancer (MGC) and ovarian cancer (OC) from different geographical backgrounds. Method: This paper presents a systematic review using the PRISMA protocol parameters to estimate the prevalence of mutations in BRCA 1/2 genes in patients with MGC and OC, the incidence of family history and the observed prevalence in sporadic cases with this type of cancer. Results: Heterogeneity is observed in the frequency of mutations of these genes in studies of family history ranging between 0.0 and 0.48 in patients and families with MGC and OC similar to those previously reported. Discussion: This wide range of frequency is due to the origin of the studied population, the number of individuals analyzed and genotyping methodology used. The review reveals that the family MGC and OC is twice as common compared with cases of the same disease of a sporadic origin. Conclusions: This type of molecular studies allows other people who have family history of MGC and OC to perform early analysis and tests to prevent the future development of this neoplasia. |
| País: | Portal de Revistas UCR |
| Institución: | Universidad de Costa Rica |
| Repositorio: | Portal de Revistas UCR |
| Lenguaje: | Español |
| OAI Identifier: | oai:portal.ucr.ac.cr:article/25016 |
| Acceso en línea: | https://revistas.ucr.ac.cr/index.php/psm/article/view/25016 |
| Palabra clave: | breast neoplasms ovarian neoplasms BRCA1 gene BRCA2 gene mutation heredity neoplasias de la mama neoplasias ováricas gen BRCA1 gen BRCA2 mutación herencia |