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CES Medicina
Print version ISSN 0120-8705
Abstract
MARTINEZ-GARRO, Juliana María et al. Gene interaction implicated in genetic anticipation of invasive breast cancer in a “paisa“ population - Colombia. CES Med. [online]. 2019, vol.33, n.1, pp.21-30. ISSN 0120-8705. https://doi.org/10.21615/cesmedicina.33.1.3.
Invasive breast cancer is a multifactorial neoplasm, involving both genetic and non-genetic components that modulate their early appearance of the disease. The aim of this study was to evaluate the contribution of genetic factors and disease.
Methodology:
165 breast cancer patients stratified by age and belonging to the “paisa” population participated in the study. No genetic variables were controlled, and genetic variables were indirectly evaluated using short tandem repeats (STR) markers.
Results:
No differences were detected in non-genetic risk factors among patients older and younger than 50 years, not even in the individual evaluation of genes. When genetic combinations were evaluated, two interactions were detected in women younger than 50 years: BRCA2-BRCA1 (p= 0,04) and BRCA2-ATM (p= 0,008).
Conclusion:
These results suggest the involvement of gene interaction BRCA1-BRCA2 and BRCA2-ATM genes in the case of early onset of breast cancer (before the age of 50). Since the study was made with indirect markers, is necessary to perform further studies to identify the functional mutations that support these findings.
Keywords : Breast cancer; Risk factor, Human genetic; Genetics, Population.
