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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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dc.contributor.authorOlaya, Justo
dc.contributor.authorSanjuan, Juan
dc.contributor.authorTorres-López, Diana María
dc.contributor.authorOlaya, Laura
dc.contributor.authorGutierrez Vargas, Miguel
dc.contributor.authorOlaya, German
dc.contributor.authorOlaya, Juan Diego
dc.contributor.corporatenamePontificia Universidad Javeriana. Facultad de Medicina. Instituto de Genética Humana. Grupo de investigación Instituto de Genética Humanaspa
dc.contributor.javerianateacherTorres-López, Diana María
dc.coverage.cityNeiva (Colombia)spa
dc.coverage.departmentHuila (Colombia)spa
dc.coverage.spatialColombiaspa
dc.coverage.temporal2010-2019spa
dc.date.accessioned2023-08-28T16:25:52Z
dc.date.available2023-08-28T16:25:52Z
dc.date.created2022-06-12
dc.description.abstractenglishBackground: 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.spa
dc.description.comunidadPacientes con Cáncer de mamaspa
dc.description.esciNospa
dc.description.indexingRevista Internacional - Indexadaspa
dc.description.orcidhttps://orcid.org/0000-0002-9879-9775spa
dc.description.publindexCspa
dc.description.quartilewosQ3spa
dc.formatPDFspa
dc.format.mimetypeapplication/pdfspa
dc.identifierhttps://www.cureus.com/articles/127909-sociodemographic-clinical-and-variation-outcomes-for-breast-cancer-and-breast-cancer-related-mutations-in-a-ten-year-cohort-from-neiva-huila-colombia#!/spa
dc.identifier.doihttps://doi.org/10.7759/cureus.32257spa
dc.identifier.instnameinstname:Pontificia Universidad Javerianaspa
dc.identifier.issn2168-8184spa
dc.identifier.reponamereponame:Repositorio Institucional - Pontificia Universidad Javerianaspa
dc.identifier.repourlrepourl:https://repository.javeriana.edu.cospa
dc.identifier.urihttp://hdl.handle.net/10554/65329
dc.language.isoengspa
dc.relation.citationendpage10spa
dc.relation.citationissue12spa
dc.relation.citationstartpage1spa
dc.relation.citationvolume14spa
dc.relation.ispartofjournalCureusspa
dc.rights.coarhttp://purl.org/coar/access_right/c_abf2spa
dc.rights.licenceAtribución-NoComercial 4.0 Internacional*
dc.rights.urihttp://creativecommons.org/licenses/by-nc/4.0/*
dc.subject.keywordBrca1/brca2spa
dc.subject.keywordHereditary cancerspa
dc.subject.keywordGeneticsspa
dc.subject.keywordMolecular biologyspa
dc.subject.keywordBrca founder mutationspa
dc.subject.keywordBreast cancer genespa
dc.subject.keywordGenetic breast cancerspa
dc.titleSociodemographic, Clinical, and Variation Outcomes for Breast Cancer and Breast Cancer-Related Mutations in a Ten-Year Cohort From Neiva, Huila, Colombiaspa
dc.type.coarhttp://purl.org/coar/resource_type/c_6501spa
dc.type.hasversionhttp://purl.org/coar/version/c_ab4af688f83e57aa
dc.type.localArtículo de revistaspa

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