Prevalence and Penetrance of BRCA1 and BRCA2 Germline Mutations in Colombian Breast Cancer Patients
9 páginas
- Autores:
-
Torres López, Diana María
Lorenzo Bermejo, Justo
Rashid, M. U.
Briceño Balcázar, Ignacio
Gil Laverde, Jacky Fabián Armando
Beltran, A.
Ariza, V.
Hamann, Ute
- Tipo de recurso:
- Fecha de publicación:
- 2017
- Institución:
- Universidad de la Sabana
- Repositorio:
- Repositorio Universidad de la Sabana
- Idioma:
- eng
- OAI Identifier:
- oai:intellectum.unisabana.edu.co:10818/32837
- Acceso en línea:
- https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5498630/
https://www.nature.com/articles/s41598-017-05056-y
http://hdl.handle.net/10818/32837
- Palabra clave:
- BRCA1/2
Atención al enfermo con cáncer
- Rights
- License
- Attribution-NonCommercial-NoDerivatives 4.0 International
| id |
REPOUSABA2_67bcfa1fbd5345d9fc0034cebf907991 |
|---|---|
| oai_identifier_str |
oai:intellectum.unisabana.edu.co:10818/32837 |
| network_acronym_str |
REPOUSABA2 |
| network_name_str |
Repositorio Universidad de la Sabana |
| repository_id_str |
|
| dc.title.es_CO.fl_str_mv |
Prevalence and Penetrance of BRCA1 and BRCA2 Germline Mutations in Colombian Breast Cancer Patients |
| title |
Prevalence and Penetrance of BRCA1 and BRCA2 Germline Mutations in Colombian Breast Cancer Patients |
| spellingShingle |
Prevalence and Penetrance of BRCA1 and BRCA2 Germline Mutations in Colombian Breast Cancer Patients BRCA1/2 Atención al enfermo con cáncer |
| title_short |
Prevalence and Penetrance of BRCA1 and BRCA2 Germline Mutations in Colombian Breast Cancer Patients |
| title_full |
Prevalence and Penetrance of BRCA1 and BRCA2 Germline Mutations in Colombian Breast Cancer Patients |
| title_fullStr |
Prevalence and Penetrance of BRCA1 and BRCA2 Germline Mutations in Colombian Breast Cancer Patients |
| title_full_unstemmed |
Prevalence and Penetrance of BRCA1 and BRCA2 Germline Mutations in Colombian Breast Cancer Patients |
| title_sort |
Prevalence and Penetrance of BRCA1 and BRCA2 Germline Mutations in Colombian Breast Cancer Patients |
| dc.creator.fl_str_mv |
Torres López, Diana María Lorenzo Bermejo, Justo Rashid, M. U. Briceño Balcázar, Ignacio Gil Laverde, Jacky Fabián Armando Beltran, A. Ariza, V. Hamann, Ute |
| dc.contributor.author.none.fl_str_mv |
Torres López, Diana María Lorenzo Bermejo, Justo Rashid, M. U. Briceño Balcázar, Ignacio Gil Laverde, Jacky Fabián Armando Beltran, A. Ariza, V. Hamann, Ute |
| dc.subject.other.en.fl_str_mv |
BRCA1/2 Atención al enfermo con cáncer |
| topic |
BRCA1/2 Atención al enfermo con cáncer |
| description |
9 páginas |
| publishDate |
2017 |
| dc.date.issued.none.fl_str_mv |
2017-07-05 |
| dc.date.available.none.fl_str_mv |
2018-04-24T20:34:04Z |
| dc.date.accessioned.none.fl_str_mv |
4/24/2018 15:34 |
| dc.type.en.fl_str_mv |
article |
| dc.type.coarversion.fl_str_mv |
http://purl.org/coar/version/c_970fb48d4fbd8a85 |
| dc.type.coar.fl_str_mv |
http://purl.org/coar/resource_type/c_6501 |
| dc.type.hasVersion.es_CO.fl_str_mv |
publishedVersion |
| dc.identifier.citation.es_CO.fl_str_mv |
Torres, C., Lorenzo Bermejo, J. Rashid, M.U. Briceño, I. Gil, F. Beltrán, A. Ariza, V. (2017). Prevalence and Penetrance of BRCA1 and BRCA2 Germline Mutations in Colombian Breas Cancer Patients. 7 (4713), 1-14. Doi: 10.1038/s41598-017-05056-y |
| dc.identifier.other.none.fl_str_mv |
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5498630/ https://www.nature.com/articles/s41598-017-05056-y |
| dc.identifier.uri.none.fl_str_mv |
http://hdl.handle.net/10818/32837 |
| dc.identifier.doi.none.fl_str_mv |
10.1038/s41598-017-05056-y |
| identifier_str_mv |
Torres, C., Lorenzo Bermejo, J. Rashid, M.U. Briceño, I. Gil, F. Beltrán, A. Ariza, V. (2017). Prevalence and Penetrance of BRCA1 and BRCA2 Germline Mutations in Colombian Breas Cancer Patients. 7 (4713), 1-14. Doi: 10.1038/s41598-017-05056-y 10.1038/s41598-017-05056-y |
| url |
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5498630/ https://www.nature.com/articles/s41598-017-05056-y http://hdl.handle.net/10818/32837 |
| dc.language.iso.es_CO.fl_str_mv |
eng |
| language |
eng |
| dc.relation.ispartofseries.none.fl_str_mv |
Sci Rep. 2017; 7: 4713 |
| dc.rights.*.fl_str_mv |
Attribution-NonCommercial-NoDerivatives 4.0 International |
| dc.rights.coar.fl_str_mv |
http://purl.org/coar/access_right/c_abf2 |
| dc.rights.uri.*.fl_str_mv |
http://creativecommons.org/licenses/by-nc-nd/4.0/ |
| rights_invalid_str_mv |
Attribution-NonCommercial-NoDerivatives 4.0 International http://creativecommons.org/licenses/by-nc-nd/4.0/ http://purl.org/coar/access_right/c_abf2 |
| dc.format.es_CO.fl_str_mv |
application/pdf |
| dc.publisher.es_CO.fl_str_mv |
Scientific Reports |
| dc.source.es_CO.fl_str_mv |
Universidad de La Sabana Intellectum Repositorio Universidad de La Sabana |
| institution |
Universidad de la Sabana |
| bitstream.url.fl_str_mv |
https://intellectum.unisabana.edu.co/bitstream/10818/32837/4/Prevalence%20and%20Penetrance%20of%20BRCA1.pdf.txt https://intellectum.unisabana.edu.co/bitstream/10818/32837/1/Prevalence%20and%20Penetrance%20of%20BRCA1.pdf https://intellectum.unisabana.edu.co/bitstream/10818/32837/2/license_rdf https://intellectum.unisabana.edu.co/bitstream/10818/32837/3/license.txt |
| bitstream.checksum.fl_str_mv |
d3d527aa5814e0e9ac21e338becb6dd0 ee6eb0396081e1d34ce5a50593626321 7c9ab7f006165862d8ce9ac5eac01552 f52a2cfd4df262e08e9b300d62c85cab |
| bitstream.checksumAlgorithm.fl_str_mv |
MD5 MD5 MD5 MD5 |
| repository.name.fl_str_mv |
Intellectum Universidad de la Sabana |
| repository.mail.fl_str_mv |
contactointellectum@unisabana.edu.co |
| _version_ |
1811952264913354752 |
| spelling |
Torres López, Diana MaríaLorenzo Bermejo, JustoRashid, M. U.Briceño Balcázar, IgnacioGil Laverde, Jacky Fabián ArmandoBeltran, A.Ariza, V.Hamann, Ute4/24/2018 15:342018-04-24T20:34:04Z2017-07-05Torres, C., Lorenzo Bermejo, J. Rashid, M.U. Briceño, I. Gil, F. Beltrán, A. Ariza, V. (2017). Prevalence and Penetrance of BRCA1 and BRCA2 Germline Mutations in Colombian Breas Cancer Patients. 7 (4713), 1-14. Doi: 10.1038/s41598-017-05056-yhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC5498630/https://www.nature.com/articles/s41598-017-05056-yhttp://hdl.handle.net/10818/3283710.1038/s41598-017-05056-y9 páginasPathogenic BRCA1/2 germline mutations confer high risks of breast and ovarian cancer to women of European ancestry. Characterization of BRCA1/2 mutations in other ethnic groups is also medically important. We comprehensively screened 68 Colombian breast/ovarian cancer families for small-range mutations, 221 families for large-genomic rearrangements, and 1,022 unselected breast cancer cases for Colombian founder mutations in BRCA1/2. The risk of cancer among relatives of mutation carriers and the mutation penetrance were estimated by survival analysis. Identified BRCA2 mutations included 6310delGA and the recurrent 1991del4 mutations. A novel large BRCA2 deletion was found in 0.9% of the screened families. Among unselected breast cancer cases, 3.3% tested positive for BRCA1/3450del4, 2.2% for BRCA1/A1708E, 1.1% for BRCA2/3034del4, and 0.4% for BRCA2/1991del4. Female relatives of carriers of BRCA1/2 founder mutations showed a 5.90 times higher risk of breast cancer, when the woman herself carried a BRCA1 mutation compared to a non-carrier (95% CI 2.01–17.3). The estimated cumulative risk of breast cancer by age 70 years for BRCA1 mutations carriers was 14% (95% CI 5–38) compared to 3% for the general Colombian population (relative risk of breast cancer 4.05). Together with known founder mutations, reported novel variants may ease a cost-effective BRCA1/2 screening in women with Colombian ancestry.application/pdfengScientific ReportsSci Rep. 2017; 7: 4713Attribution-NonCommercial-NoDerivatives 4.0 Internationalhttp://creativecommons.org/licenses/by-nc-nd/4.0/http://purl.org/coar/access_right/c_abf2Universidad de La SabanaIntellectum Repositorio Universidad de La SabanaBRCA1/2Atención al enfermo con cáncerPrevalence and Penetrance of BRCA1 and BRCA2 Germline Mutations in Colombian Breast Cancer PatientsarticlepublishedVersionhttp://purl.org/coar/version/c_970fb48d4fbd8a85http://purl.org/coar/resource_type/c_6501TEXTPrevalence and Penetrance of BRCA1.pdf.txtPrevalence and Penetrance of BRCA1.pdf.txtExtracted Texttext/plain47386https://intellectum.unisabana.edu.co/bitstream/10818/32837/4/Prevalence%20and%20Penetrance%20of%20BRCA1.pdf.txtd3d527aa5814e0e9ac21e338becb6dd0MD54ORIGINALPrevalence and Penetrance of BRCA1.pdfPrevalence and Penetrance of BRCA1.pdfVer artículo en PDFapplication/pdf1443999https://intellectum.unisabana.edu.co/bitstream/10818/32837/1/Prevalence%20and%20Penetrance%20of%20BRCA1.pdfee6eb0396081e1d34ce5a50593626321MD51CC-LICENSElicense_rdflicense_rdfapplication/rdf+xml; charset=utf-81223https://intellectum.unisabana.edu.co/bitstream/10818/32837/2/license_rdf7c9ab7f006165862d8ce9ac5eac01552MD52LICENSElicense.txtlicense.txttext/plain; charset=utf-8498https://intellectum.unisabana.edu.co/bitstream/10818/32837/3/license.txtf52a2cfd4df262e08e9b300d62c85cabMD5310818/32837oai:intellectum.unisabana.edu.co:10818/328372022-05-10 05:17:38.958Intellectum Universidad de la Sabanacontactointellectum@unisabana.edu.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 |