Evaluación in vitro de la capacidad de reparación del daño en el ADN, en pacientes con cáncer de mama y criterios de alto riesgo para formas hereditarias
It was proposed to evaluate DNA repair in lymphocytes through ionizing radiation in patients with breast cancer with and without mutations in BRCA genes to identify patients with higher risk of disease. In cases where molecular studies do not show a pathogenic mutation in the BRCA1 or BRCA2 genes an...
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| Autores principales: | , , , , , , |
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| Publicado: |
2019
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| Acceso en línea: | https://bdigital.uncu.edu.ar/fichas.php?idobjeto=14647 |
| Sumario: | It was proposed to evaluate DNA repair in lymphocytes through ionizing radiation in patients with breast cancer with and without mutations in BRCA genes to identify patients with higher risk of disease. In cases where molecular studies do not show a pathogenic mutation in the BRCA1 or BRCA2 genes and the clinical risk of Hereditary Breast and Ovarian Cancer Syndrome (HBOC) is high. The patient and his family should consider the possibility to have preventive and risk reduction strategies to the suspected syndrome. It is therefore that we propose as a general objective to identify an alteration in the mechanism of DNA repair in patients with breast / ovarian cancer without mutation in the BRCA genes. Our specific objectives are: OBJECTIVE 1. To determine by the alkaline comet assay the ability to repair DNA damage induced by ionizing radiation in peripheral blood lymphocytes from patients with hereditary breast cancer: (a) with pathogenic mutations in BRCA1 or BRCA2 genes (b) without pathogenic mutations in BRCA1 or BRCA2 genes OBJECTIVE 2. To determine, through cytogenetic detection of micronuclei, the ability to repair DNA damage induced by ionizing radiation in peripheral blood lymphocytes from patients with hereditary breast cancer: (a) with pathogenic mutations in BRCA1 or BRCA2 genes (b) without pathogenic mutations in BRCA1 or BRCA2 genes. The results of our work could optimize the detection and reclassification of patients at risk of hereditary breast and ovarian cancer. The determination of the DNA repair capacity in lymphocytes, could be an advance towards personalized medicine, also opening a new path for molecular research. |
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