Frequency of brca1 and brca2 gene mutations and risk factors related to breast cancer in women attending the Solca Cancer Institute

Abstract

Introduction: Breast cancer has been established as a public health problem and is the most common worldwide. It is a heterogeneous disease that consists of abnormal growth, multiplication, and proliferation of healthy cells until it transforms into a tumor. The BRCA1 and BRCA2 genes are closely related since they are responsible for inhibiting malignant tumors, and a mutation of these genes produces this type of carcinoma. Objective: To characterize the frequency of mutations in BRCA1 and BRCA2 genes in women with breast cancer treated at the SOLCA Cancer Institute in Cuenca in 2019 – 2023. Methodology: This article uses a non-experimental descriptive, secondary documentary, and cross-sectional quantitative approach. The information was collected from secondary sources and entered the database of the genetic sequencing department of the SOLCA Cancer Institute. A database was developed using Microsoft Excel and Spss. Results: Out of 188 patients with breast cancer (corresponding to 100%), only 4% of cases were due to a mutation in the BRCA1 or BRCA2 genes, with an age range of diagnosis from 25 to 62 years old. Conclusion: The data collected in this study determined that the frequency of mutations in BRCA1 or BRCA2 genes in women with breast cancer treated at the SOLCA Cancer Institute in Cuenca in 2019 – 2023 is low.