Genetic mutations associated with hereditary breast cancer in Nicaraguan women
DOI:
https://doi.org/10.5377/rtu.v10i29.12735Keywords:
Breast cancer, Hereditary, Susceptibility genes, BRCA1/2, Pathogenic variants, Latin AmericaAbstract
Introduction: The etiology of breast cancer is multifactorial; however, it has been shown that most are sporadic and 5 to 10% of genetic origin. Genes known to date, and associated with an inherited predisposition to breast cancer, have been classified into high, moderate and low penetrance genes.
Objective: To determine genetic mutations associated to hereditary breast cancer in Nicaraguan women.
Materials and method: 39 women with histopathological diagnosis of breast cancer were recruited to participate in the study, with prior informed consent. 5ml of peripheral blood was taken from each of the patients for DNA extraction, then the genetic test was performed on the BRCA1, BRCA2, Tp53, PALB2, CDH1, PTEN and CHEK2 genes, determining their clinical significance by comparing the sequences with the databases from the Breast Cancer Information Core (BIC) and ClinVar.
Results: The 10% (4/39) of patients studied carry a pathogenic mutation in the BRCA2 (5%), Tp53 and PALB2 genes (2.5% respectively), associated with hereditary breast cancer. Variations of benign clinical significance, uncertain, variants that have not yet been reported in the databases and others with pathogenicity conflicts were also identified.
Conclusions: It is necessary and important to include molecular diagnosis in Nicaraguan patients at risk of developing hereditary breast cancer, for their own well-being and that of their family members, to achieve an early diagnosis, and to improve therapy and follow-up. Therefore, we recommend integrating genetic screening for Nicaraguan women at risk of developing this disease and for those who already suffer from it.
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