Sociodemographic, Clinical, and Variation Outcomes for Breast Cancer and Breast Cancer-Related Mutations in a Ten-Year Cohort From Neiva, Huila, Colombia
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Date
2022-06-12Authors
Olaya, JustoSanjuan, Juan
Torres-López, Diana María
Olaya, Laura
Gutierrez Vargas, Miguel
Olaya, German
Olaya, Juan Diego
Corporate Author(s)
Pontificia Universidad Javeriana. Facultad de Medicina. Instituto de Genética Humana. Grupo de investigación Instituto de Genética Humana
Type
Artículo de revista
ISSN
2168-8184
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Abstract
Background:
Some breast cancer cases are related to inherited mutations, and this is the reason why early mutation
screening is emerging as an area of focus for cost-effective care. However, breast cancer-related mutations
vary according to race, ethnicity, geographic origin, and healthcare access. Surveillance for familial breast
cancer is not performed routinely in Colombia. Our main aim in this study was to describe a cohort of breast
cancer patients, carrying founder breast cancer gene (BRCA) mutations, which were followed up for up to 10
years (2010-2019) in Neiva, Colombia.
Methods:
We performed a retrospective description from an outpatient care center in Huila, Colombia, a region with
high breast cancer rates. This study included patients with both a breast cancer diagnosis and an incident
genetic mutation for breast cancer (detected during a breast cancer consultation). We captured information
from patient medical records. Descriptive analyses were performed.
Results:
A total of 105 patients met the study’s inclusion criteria and were included patients with the BRCA1
mutation and three with BRCA2 mutations. They had a median age of 45 years (IQR, 36 to 51 years).
Relatives with a breast cancer history were found in 74 carriers (70.5%). Most patients had a report of Breast
Imaging-Reporting and Data System (BIRADS) ≥ 4. A TNM (tumor, node, metastasis) changed
reclassification was observed in anatomical vs. prognostic classification. Median follow-up was of 74
months (IQR, 44 to 130), overall observed mortality was 22.9%, and specific mortality was 19.1%.
Conclusion:
Women with breast cancer who carry a mutation related to breast cancer are usually younger than age 50 at
diagnosis. Developing strategies and specific policies for this population is needed, and a prevalent BRCA1
c.3331_3334delCAAG mutation could be used as a cost-effective first approach. Among these patients, a
risk-increased reclassification was observed.
Keywords
Brca1/brca2Hereditary cancer
Genetics
Molecular biology
Brca founder mutation
Breast cancer gene
Genetic breast cancer
Spatial coverage (cities)
Neiva (Colombia)Spatial coverage (departments of Colombia)
Huila (Colombia)Spatial coverage
ColombiaTemporary coverage
2010-2019Community
Pacientes con Cáncer de mamaSource
Cureus; Volumen 14 Número 12 , Páginas 1 - 10 (2022)
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