Sociodemographic, Clinical, and Variation Outcomes for Breast Cancer and Breast Cancer-Related Mutations in a Ten-Year Cohort From Neiva, Huila, Colombia
Q3
- Autores:
-
Olaya, Justo
Sanjuan, Juan
Torres-López, Diana María
Olaya, Laura
Gutierrez Vargas, Miguel
Olaya, German
Olaya, Juan Diego
- Tipo de recurso:
- Article of journal
- Fecha de publicación:
- 2022
- Institución:
- Pontificia Universidad Javeriana
- Repositorio:
- Repositorio Universidad Javeriana
- Idioma:
- eng
- OAI Identifier:
- oai:repository.javeriana.edu.co:10554/65329
- Acceso en línea:
- https://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#!/
http://hdl.handle.net/10554/65329
https://doi.org/10.7759/cureus.32257
- Palabra clave:
- Brca1/brca2
Hereditary cancer
Genetics
Molecular biology
Brca founder mutation
Breast cancer gene
Genetic breast cancer
- Rights
- License
- Atribución-NoComercial 4.0 Internacional
| id |
JAVERIANA2_950dc452b162fd6ec47f280f464c4b59 |
|---|---|
| oai_identifier_str |
oai:repository.javeriana.edu.co:10554/65329 |
| network_acronym_str |
JAVERIANA2 |
| network_name_str |
Repositorio Universidad Javeriana |
| repository_id_str |
|
| dc.title.spa.fl_str_mv |
Sociodemographic, Clinical, and Variation Outcomes for Breast Cancer and Breast Cancer-Related Mutations in a Ten-Year Cohort From Neiva, Huila, Colombia |
| title |
Sociodemographic, Clinical, and Variation Outcomes for Breast Cancer and Breast Cancer-Related Mutations in a Ten-Year Cohort From Neiva, Huila, Colombia |
| spellingShingle |
Sociodemographic, Clinical, and Variation Outcomes for Breast Cancer and Breast Cancer-Related Mutations in a Ten-Year Cohort From Neiva, Huila, Colombia Brca1/brca2 Hereditary cancer Genetics Molecular biology Brca founder mutation Breast cancer gene Genetic breast cancer |
| title_short |
Sociodemographic, Clinical, and Variation Outcomes for Breast Cancer and Breast Cancer-Related Mutations in a Ten-Year Cohort From Neiva, Huila, Colombia |
| title_full |
Sociodemographic, Clinical, and Variation Outcomes for Breast Cancer and Breast Cancer-Related Mutations in a Ten-Year Cohort From Neiva, Huila, Colombia |
| title_fullStr |
Sociodemographic, Clinical, and Variation Outcomes for Breast Cancer and Breast Cancer-Related Mutations in a Ten-Year Cohort From Neiva, Huila, Colombia |
| title_full_unstemmed |
Sociodemographic, Clinical, and Variation Outcomes for Breast Cancer and Breast Cancer-Related Mutations in a Ten-Year Cohort From Neiva, Huila, Colombia |
| title_sort |
Sociodemographic, Clinical, and Variation Outcomes for Breast Cancer and Breast Cancer-Related Mutations in a Ten-Year Cohort From Neiva, Huila, Colombia |
| dc.creator.fl_str_mv |
Olaya, Justo Sanjuan, Juan Torres-López, Diana María Olaya, Laura Gutierrez Vargas, Miguel Olaya, German Olaya, Juan Diego |
| dc.contributor.author.none.fl_str_mv |
Olaya, Justo Sanjuan, Juan Torres-López, Diana María Olaya, Laura Gutierrez Vargas, Miguel Olaya, German Olaya, Juan Diego |
| dc.contributor.corporatename.spa.fl_str_mv |
Pontificia Universidad Javeriana. Facultad de Medicina. Instituto de Genética Humana. Grupo de investigación Instituto de Genética Humana |
| dc.contributor.javerianateacher.none.fl_str_mv |
Torres-López, Diana María |
| dc.subject.keyword.spa.fl_str_mv |
Brca1/brca2 Hereditary cancer Genetics Molecular biology Brca founder mutation Breast cancer gene Genetic breast cancer |
| topic |
Brca1/brca2 Hereditary cancer Genetics Molecular biology Brca founder mutation Breast cancer gene Genetic breast cancer |
| description |
Q3 |
| publishDate |
2022 |
| dc.date.created.none.fl_str_mv |
2022-06-12 |
| dc.date.accessioned.none.fl_str_mv |
2023-08-28T16:25:52Z |
| dc.date.available.none.fl_str_mv |
2023-08-28T16:25:52Z |
| dc.type.local.spa.fl_str_mv |
Artículo de revista |
| dc.type.coar.spa.fl_str_mv |
http://purl.org/coar/resource_type/c_6501 |
| format |
http://purl.org/coar/resource_type/c_6501 |
| dc.identifier.spa.fl_str_mv |
https://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#!/ |
| dc.identifier.issn.spa.fl_str_mv |
2168-8184 |
| dc.identifier.uri.none.fl_str_mv |
http://hdl.handle.net/10554/65329 |
| dc.identifier.doi.spa.fl_str_mv |
https://doi.org/10.7759/cureus.32257 |
| dc.identifier.instname.spa.fl_str_mv |
instname:Pontificia Universidad Javeriana |
| dc.identifier.reponame.spa.fl_str_mv |
reponame:Repositorio Institucional - Pontificia Universidad Javeriana |
| dc.identifier.repourl.spa.fl_str_mv |
repourl:https://repository.javeriana.edu.co |
| url |
https://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#!/ http://hdl.handle.net/10554/65329 https://doi.org/10.7759/cureus.32257 |
| identifier_str_mv |
2168-8184 instname:Pontificia Universidad Javeriana reponame:Repositorio Institucional - Pontificia Universidad Javeriana repourl:https://repository.javeriana.edu.co |
| dc.language.iso.spa.fl_str_mv |
eng |
| language |
eng |
| dc.relation.citationstartpage.spa.fl_str_mv |
1 |
| dc.relation.citationendpage.spa.fl_str_mv |
10 |
| dc.relation.ispartofjournal.spa.fl_str_mv |
Cureus |
| dc.relation.citationvolume.spa.fl_str_mv |
14 |
| dc.relation.citationissue.spa.fl_str_mv |
12 |
| dc.rights.licence.*.fl_str_mv |
Atribución-NoComercial 4.0 Internacional |
| dc.rights.uri.*.fl_str_mv |
http://creativecommons.org/licenses/by-nc/4.0/ |
| dc.rights.coar.spa.fl_str_mv |
http://purl.org/coar/access_right/c_abf2 |
| rights_invalid_str_mv |
Atribución-NoComercial 4.0 Internacional http://creativecommons.org/licenses/by-nc/4.0/ http://purl.org/coar/access_right/c_abf2 |
| dc.format.spa.fl_str_mv |
PDF |
| dc.format.mimetype.spa.fl_str_mv |
application/pdf |
| dc.coverage.spatial.spa.fl_str_mv |
Colombia |
| dc.coverage.temporal.spa.fl_str_mv |
2010-2019 |
| dc.coverage.department.spa.fl_str_mv |
Huila (Colombia) |
| dc.coverage.city.spa.fl_str_mv |
Neiva (Colombia) |
| institution |
Pontificia Universidad Javeriana |
| bitstream.url.fl_str_mv |
http://repository.javeriana.edu.co/bitstream/10554/65329/1/Sociodemographic%2c%20Clinical%2c%20and%20Variation%20Outcomes%20for%20Breast%20Cancer%20and%20Breast%20Cancer-Related%20Mutations%20in%20a%20Ten-Year%20Cohort%20From%20Nei.pdf http://repository.javeriana.edu.co/bitstream/10554/65329/2/license.txt http://repository.javeriana.edu.co/bitstream/10554/65329/3/Sociodemographic%2c%20Clinical%2c%20and%20Variation%20Outcomes%20for%20Breast%20Cancer%20and%20Breast%20Cancer-Related%20Mutations%20in%20a%20Ten-Year%20Cohort%20From%20Nei.pdf.jpg |
| bitstream.checksum.fl_str_mv |
52d5858c03d42560ea02ef145ff09222 2070d280cc89439d983d9eee1b17df53 87247f07f553d4547a7ec27206c4c287 |
| bitstream.checksumAlgorithm.fl_str_mv |
MD5 MD5 MD5 |
| repository.name.fl_str_mv |
Repositorio Institucional - Pontificia Universidad Javeriana |
| repository.mail.fl_str_mv |
repositorio@javeriana.edu.co |
| _version_ |
1811670998895820800 |
| spelling |
Atribución-NoComercial 4.0 Internacionalhttp://creativecommons.org/licenses/by-nc/4.0/http://purl.org/coar/access_right/c_abf2Olaya, JustoSanjuan, JuanTorres-López, Diana MaríaOlaya, LauraGutierrez Vargas, MiguelOlaya, GermanOlaya, Juan DiegoPontificia Universidad Javeriana. Facultad de Medicina. Instituto de Genética Humana. Grupo de investigación Instituto de Genética HumanaTorres-López, Diana MaríaColombia2010-2019Huila (Colombia)Neiva (Colombia)2023-08-28T16:25:52Z2023-08-28T16:25:52Z2022-06-12https://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#!/2168-8184http://hdl.handle.net/10554/65329https://doi.org/10.7759/cureus.32257instname:Pontificia Universidad Javerianareponame:Repositorio Institucional - Pontificia Universidad Javerianarepourl:https://repository.javeriana.edu.coPDFapplication/pdfengSociodemographic, Clinical, and Variation Outcomes for Breast Cancer and Breast Cancer-Related Mutations in a Ten-Year Cohort From Neiva, Huila, ColombiaArtículo de revistahttp://purl.org/coar/resource_type/c_6501Q3Pacientes con Cáncer de mamaBackground: 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.https://orcid.org/0000-0002-9879-9775Revista Internacional - IndexadaCNoBrca1/brca2Hereditary cancerGeneticsMolecular biologyBrca founder mutationBreast cancer geneGenetic breast cancer110Cureus1412ORIGINALSociodemographic, Clinical, and Variation Outcomes for Breast Cancer and Breast Cancer-Related Mutations in a Ten-Year Cohort From Nei.pdfSociodemographic, Clinical, and Variation Outcomes for Breast Cancer and Breast Cancer-Related Mutations in a Ten-Year Cohort From Nei.pdfArtículoapplication/pdf266794http://repository.javeriana.edu.co/bitstream/10554/65329/1/Sociodemographic%2c%20Clinical%2c%20and%20Variation%20Outcomes%20for%20Breast%20Cancer%20and%20Breast%20Cancer-Related%20Mutations%20in%20a%20Ten-Year%20Cohort%20From%20Nei.pdf52d5858c03d42560ea02ef145ff09222MD51open accessLICENSElicense.txtlicense.txttext/plain; charset=utf-82603http://repository.javeriana.edu.co/bitstream/10554/65329/2/license.txt2070d280cc89439d983d9eee1b17df53MD52open accessTHUMBNAILSociodemographic, Clinical, and Variation Outcomes for Breast Cancer and Breast Cancer-Related Mutations in a Ten-Year Cohort From Nei.pdf.jpgSociodemographic, Clinical, and Variation Outcomes for Breast Cancer and Breast Cancer-Related Mutations in a Ten-Year Cohort From Nei.pdf.jpgIM Thumbnailimage/jpeg8308http://repository.javeriana.edu.co/bitstream/10554/65329/3/Sociodemographic%2c%20Clinical%2c%20and%20Variation%20Outcomes%20for%20Breast%20Cancer%20and%20Breast%20Cancer-Related%20Mutations%20in%20a%20Ten-Year%20Cohort%20From%20Nei.pdf.jpg87247f07f553d4547a7ec27206c4c287MD53open access10554/65329oai:repository.javeriana.edu.co:10554/653292023-08-29 03:05:29.254Repositorio Institucional - Pontificia Universidad Javerianarepositorio@javeriana.edu.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 |