Prevalence of BRCA1 and BRCA2 germline mutations in patients of african descent with early-onset and familial Colombian breast cancer
Q2
- Autores:
-
Vargas, Elizabeth
de Deugd, Robert
Villegas, Victoria E.
Gil, Fabian
Mora, Lina Ma.
Viaña, Luis Fernando
Bruges Maya, Ricardo
Gonzalez, Alejandro
Galvis, Juan Carlos
Hamann, Ute
Torres-López, Diana María
- 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:10554/63635
- Acceso en línea:
- https://academic.oup.com/oncolo/article/27/2/e151/6528886?searchresult=1
http://hdl.handle.net/10554/63635
https://doi.org/10.1093/oncolo/oyab026
- Palabra clave:
- BRCA1/2
Breast cancer
Germline mutation
Afro-Colombian
- Rights
- License
- Atribución-NoComercial 4.0 Internacional
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| dc.title.spa.fl_str_mv |
Prevalence of BRCA1 and BRCA2 germline mutations in patients of african descent with early-onset and familial Colombian breast cancer |
| title |
Prevalence of BRCA1 and BRCA2 germline mutations in patients of african descent with early-onset and familial Colombian breast cancer |
| spellingShingle |
Prevalence of BRCA1 and BRCA2 germline mutations in patients of african descent with early-onset and familial Colombian breast cancer BRCA1/2 Breast cancer Germline mutation Afro-Colombian |
| title_short |
Prevalence of BRCA1 and BRCA2 germline mutations in patients of african descent with early-onset and familial Colombian breast cancer |
| title_full |
Prevalence of BRCA1 and BRCA2 germline mutations in patients of african descent with early-onset and familial Colombian breast cancer |
| title_fullStr |
Prevalence of BRCA1 and BRCA2 germline mutations in patients of african descent with early-onset and familial Colombian breast cancer |
| title_full_unstemmed |
Prevalence of BRCA1 and BRCA2 germline mutations in patients of african descent with early-onset and familial Colombian breast cancer |
| title_sort |
Prevalence of BRCA1 and BRCA2 germline mutations in patients of african descent with early-onset and familial Colombian breast cancer |
| dc.creator.fl_str_mv |
Vargas, Elizabeth de Deugd, Robert Villegas, Victoria E. Gil, Fabian Mora, Lina Ma. Viaña, Luis Fernando Bruges Maya, Ricardo Gonzalez, Alejandro Galvis, Juan Carlos Hamann, Ute Torres-López, Diana María |
| dc.contributor.author.none.fl_str_mv |
Vargas, Elizabeth de Deugd, Robert Villegas, Victoria E. Gil, Fabian Mora, Lina Ma. Viaña, Luis Fernando Bruges Maya, Ricardo Gonzalez, Alejandro Galvis, Juan Carlos Hamann, Ute Torres-López, Diana María |
| dc.contributor.corporatename.spa.fl_str_mv |
Pontificia Universidad Javeriana. Facultad de Medicina. Departamento de Epidemiología Clínica y Bioestadística |
| dc.contributor.corporatename.none.fl_str_mv |
Pontificia Universidad Javeriana. Facultad de Medicina. Departamento de Medicina Interna. Medicina Interna Pontificia Universidad Javeriana. Facultad de Medicina. Instituto de Genética Humana. Grupo de investigación Instituto de Genética Humana |
| dc.contributor.javerianateacher.none.fl_str_mv |
Mora, Lina Ma. Gil, Fabian Bruges Maya, Ricardo Torres-López, Diana María |
| dc.subject.keyword.spa.fl_str_mv |
BRCA1/2 Breast cancer Germline mutation Afro-Colombian |
| topic |
BRCA1/2 Breast cancer Germline mutation Afro-Colombian |
| description |
Q2 |
| publishDate |
2022 |
| dc.date.created.none.fl_str_mv |
2022-02-15 |
| dc.date.accessioned.none.fl_str_mv |
2023-03-08T19:57:58Z |
| dc.date.available.none.fl_str_mv |
2023-03-08T19:57:58Z |
| dc.type.local.spa.fl_str_mv |
Artículo de revista |
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http://purl.org/coar/resource_type/c_6501 |
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http://purl.org/coar/resource_type/c_6501 |
| dc.identifier.spa.fl_str_mv |
https://academic.oup.com/oncolo/article/27/2/e151/6528886?searchresult=1 |
| dc.identifier.issn.spa.fl_str_mv |
1083-7159 / 1549-490X (Electrónico) |
| dc.identifier.uri.none.fl_str_mv |
http://hdl.handle.net/10554/63635 |
| dc.identifier.doi.spa.fl_str_mv |
https://doi.org/10.1093/oncolo/oyab026 |
| dc.identifier.instname.spa.fl_str_mv |
instname:Pontificia Universidad Javeriana |
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reponame:Repositorio Institucional - Pontificia Universidad Javeriana |
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repourl:https://repository.javeriana.edu.co |
| url |
https://academic.oup.com/oncolo/article/27/2/e151/6528886?searchresult=1 http://hdl.handle.net/10554/63635 https://doi.org/10.1093/oncolo/oyab026 |
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1083-7159 / 1549-490X (Electrónico) 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 |
151 |
| dc.relation.citationendpage.spa.fl_str_mv |
157 |
| dc.relation.ispartofjournal.spa.fl_str_mv |
The oncologist |
| dc.relation.citationvolume.spa.fl_str_mv |
27 |
| dc.relation.citationissue.spa.fl_str_mv |
2 |
| 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/ |
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http://purl.org/coar/access_right/c_abf2 |
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Atribución-NoComercial 4.0 Internacional http://creativecommons.org/licenses/by-nc/4.0/ http://purl.org/coar/access_right/c_abf2 |
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PDF |
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application/pdf |
| dc.coverage.spatial.spa.fl_str_mv |
Colombia |
| dc.coverage.temporal.none.fl_str_mv |
2016 |
| institution |
Pontificia Universidad Javeriana |
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Repositorio Institucional - Pontificia Universidad Javeriana |
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Atribución-NoComercial 4.0 Internacionalhttp://creativecommons.org/licenses/by-nc/4.0/http://purl.org/coar/access_right/c_abf2Vargas, Elizabethde Deugd, RobertVillegas, Victoria E.Gil, FabianMora, Lina Ma.Viaña, Luis FernandoBruges Maya, RicardoGonzalez, AlejandroGalvis, Juan CarlosHamann, UteTorres-López, Diana MaríaPontificia Universidad Javeriana. Facultad de Medicina. Departamento de Epidemiología Clínica y BioestadísticaPontificia Universidad Javeriana. Facultad de Medicina. Departamento de Medicina Interna. Medicina InternaPontificia Universidad Javeriana. Facultad de Medicina. Instituto de Genética Humana. Grupo de investigación Instituto de Genética HumanaMora, Lina Ma.Gil, FabianBruges Maya, RicardoTorres-López, Diana MaríaColombia20162023-03-08T19:57:58Z2023-03-08T19:57:58Z2022-02-15https://academic.oup.com/oncolo/article/27/2/e151/6528886?searchresult=11083-7159 / 1549-490X (Electrónico)http://hdl.handle.net/10554/63635https://doi.org/10.1093/oncolo/oyab026instname:Pontificia Universidad Javerianareponame:Repositorio Institucional - Pontificia Universidad Javerianarepourl:https://repository.javeriana.edu.coPDFapplication/pdfengPrevalence of BRCA1 and BRCA2 germline mutations in patients of african descent with early-onset and familial Colombian breast cancerArtículo de revistahttp://purl.org/coar/resource_type/c_6501Q2Q1Familias afrocolombianas afectadas por cáncer de mama y ovarioBackground: Pathogenic germline mutations in the BRCA1 and BRCA2 (BRCA1/2) genes contribute to hereditary breast/ovarian cancer (OC) in White/mestizo Colombian women. As there is virtually no genetic data on breast cancer (BC) in Colombians of African descent, we conducted a comprehensive BRCA1/2 mutational analysis of 60 Afro-Colombian families affected by breast/OC. Materials and Methods: Mutation screening of the complete BRCA1/2 genes for small-scale mutations and large genomic alterations was performed in these families using next-generation sequencing and multiplex ligation-dependent probe amplification analysis. Results: Four pathogenic germline mutations, including one novel mutation, were identified, comprising 3 in BRCA1 and one in BRCA2. The prevalence of BRCA1/2 mutations, including one BRCA1 founder mutation (c.5123C>A) previously identified in this sample set, was 3.9% (2/51) in female BC-affected families and 33.3% (3/9) in those affected by both breast and OC. Haplotype analysis of 2 BRCA2_c.2701delC carriers (one Afro-Colombian and one previously identified White/mestizo Colombian patient with BC) suggested that the mutation arose in a common ancestor. Conclusion: Our data showed that 2/5 (40%) mutations (including the one previously identified in this sample set) are shared by White/mestizo Colombian and Afro-Colombian populations. This suggests that these 2 populations are closely related. Nevertheless, variations in the BRCA1/2 mutational spectrum among Afro-Colombian subgroups from different regions of the country were observed, suggesting that specific genetic risk assessment strategies need to be developed.https://orcid.org/0000-0002-1903-9621https://orcid.org/0000-0001-6444-7248https://orcid.org/0000-0002-3649-9515https://orcid.org/0000-0002-9879-9775Revista Internacional - IndexadaA1NoBRCA1/2Breast cancerGermline mutationAfro-Colombian151157The oncologist272ORIGINALPrevalence of BRCA1 and BRCA2 Germline Mutations in Patients of African Descent with Early-Onset and Familial Colombian Breast Cancer.pdfPrevalence of BRCA1 and BRCA2 Germline Mutations in Patients of African Descent with Early-Onset and Familial Colombian Breast Cancer.pdfArtículoapplication/pdf343250http://repository.javeriana.edu.co/bitstream/10554/63635/1/Prevalence%20of%20BRCA1%20and%20BRCA2%20Germline%20Mutations%20in%20Patients%20of%20African%20Descent%20with%20Early-Onset%20and%20Familial%20Colombian%20Breast%20Cancer.pdfd935881e33dede1ff988b54ff99df706MD51open accessLICENSElicense.txtlicense.txttext/plain; charset=utf-82603http://repository.javeriana.edu.co/bitstream/10554/63635/2/license.txt2070d280cc89439d983d9eee1b17df53MD52open accessTHUMBNAILPrevalence of BRCA1 and BRCA2 Germline Mutations in Patients of African Descent with Early-Onset and Familial Colombian Breast Cancer.pdf.jpgPrevalence of BRCA1 and BRCA2 Germline Mutations in Patients of African Descent with Early-Onset and Familial Colombian Breast Cancer.pdf.jpgIM Thumbnailimage/jpeg10296http://repository.javeriana.edu.co/bitstream/10554/63635/3/Prevalence%20of%20BRCA1%20and%20BRCA2%20Germline%20Mutations%20in%20Patients%20of%20African%20Descent%20with%20Early-Onset%20and%20Familial%20Colombian%20Breast%20Cancer.pdf.jpgad94ce6ff39551e3e51aab14da330640MD53open access10554/63635oai:repository.javeriana.edu.co:10554/636352023-03-09 03:03:01.994Repositorio Institucional - Pontificia Universidad Javerianarepositorio@javeriana.edu.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 |