Absence of the BRCA1 del (exons 9–12) mutation in breast/ovarian cancer families outside of Mexican Hispanics

3 páginas

Autores:: Torres, Diana
Rashid, Muhammad U.
Seidel Renkert, Antje
Weitzel, Jeffrey N.
Briceño Balcázar, Ignacio
Hamann, Ute

Tipo de recurso:

Fecha de publicación:: 2009

Institución:: Universidad de la Sabana

Repositorio:: Repositorio Universidad de la Sabana

Idioma:: eng

id	REPOUSABA2_12c7c382e37ba3f7cebf99d3d1a4a3ee
oai_identifier_str	oai:intellectum.unisabana.edu.co:10818/41123
network_acronym_str	REPOUSABA2
network_name_str	Repositorio Universidad de la Sabana
repository_id_str
dc.title.es_CO.fl_str_mv	Absence of the BRCA1 del (exons 9–12) mutation in breast/ovarian cancer families outside of Mexican Hispanics
dc.title.alternative.es_CO.fl_str_mv	Ausencia de la mutación BRCA1 del (exones 9-12) en familias con cáncer de seno / ovario fuera de hispanos mexicanos
title	Absence of the BRCA1 del (exons 9–12) mutation in breast/ovarian cancer families outside of Mexican Hispanics
spellingShingle	Absence of the BRCA1 del (exons 9–12) mutation in breast/ovarian cancer families outside of Mexican Hispanics BRCA1 Genomic rearrangements Exon 9–12 deletion Ethnic groups
title_short	Absence of the BRCA1 del (exons 9–12) mutation in breast/ovarian cancer families outside of Mexican Hispanics
title_full	Absence of the BRCA1 del (exons 9–12) mutation in breast/ovarian cancer families outside of Mexican Hispanics
title_fullStr	Absence of the BRCA1 del (exons 9–12) mutation in breast/ovarian cancer families outside of Mexican Hispanics
title_full_unstemmed	Absence of the BRCA1 del (exons 9–12) mutation in breast/ovarian cancer families outside of Mexican Hispanics
title_sort	Absence of the BRCA1 del (exons 9–12) mutation in breast/ovarian cancer families outside of Mexican Hispanics
dc.creator.fl_str_mv	Torres, Diana Rashid, Muhammad U. Seidel Renkert, Antje Weitzel, Jeffrey N. Briceño Balcázar, Ignacio Hamann, Ute
dc.contributor.author.none.fl_str_mv	Torres, Diana Rashid, Muhammad U. Seidel Renkert, Antje Weitzel, Jeffrey N. Briceño Balcázar, Ignacio Hamann, Ute
dc.subject.es_CO.fl_str_mv	BRCA1 Genomic rearrangements Exon 9–12 deletion Ethnic groups
topic	BRCA1 Genomic rearrangements Exon 9–12 deletion Ethnic groups
description	3 páginas
publishDate	2009
dc.date.issued.none.fl_str_mv	2009-03-31
dc.date.available.none.fl_str_mv	2020-05-19T22:56:51Z
dc.date.accessioned.none.fl_str_mv	5/19/2020 17:56
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	orres, D., Rashid, MU, Seidel-Renkert, A. et al. Ausencia de la mutación BRCA1 del (exones 9-12) en familias con cáncer de mama / ovario fuera de los hispanos mexicanos. Breast Cancer Res Treat 117, 679–681 (2009). https://doi.org/10.1007/s10549-009-0383-4
dc.identifier.other.none.fl_str_mv	https://link.springer.com/article/10.1007%2Fs10549-009-0383-4#citeas https://link.springer.com/content/pdf/10.1007/s10549-009-0383-4.pdf
dc.identifier.uri.none.fl_str_mv	http://hdl.handle.net/10818/41123
dc.identifier.doi.none.fl_str_mv	10.1007/s10549-009-0383-4
dc.identifier.eissn.none.fl_str_mv	1573-7217
identifier_str_mv	orres, D., Rashid, MU, Seidel-Renkert, A. et al. Ausencia de la mutación BRCA1 del (exones 9-12) en familias con cáncer de mama / ovario fuera de los hispanos mexicanos. Breast Cancer Res Treat 117, 679–681 (2009). https://doi.org/10.1007/s10549-009-0383-4 10.1007/s10549-009-0383-4 1573-7217
url	https://link.springer.com/article/10.1007%2Fs10549-009-0383-4#citeas https://link.springer.com/content/pdf/10.1007/s10549-009-0383-4.pdf http://hdl.handle.net/10818/41123
dc.language.iso.es_CO.fl_str_mv	eng
language	eng
dc.relation.ispartofseries.none.fl_str_mv	Breast Cancer Res Treat (2009) 117:679–681
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	Breast Cancer Res Treat
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/10818/41123/2/license_rdf https://intellectum.unisabana.edu.co/bitstream/10818/41123/3/license.txt
bitstream.checksum.fl_str_mv	4460e5956bc1d1639be9ae6146a50347 f52a2cfd4df262e08e9b300d62c85cab
bitstream.checksumAlgorithm.fl_str_mv	MD5 MD5
repository.name.fl_str_mv	Intellectum Universidad de la Sabana
repository.mail.fl_str_mv	contactointellectum@unisabana.edu.co
_version_	1811952271178596352
spelling	Torres, DianaRashid, Muhammad U.Seidel Renkert, AntjeWeitzel, Jeffrey N.Briceño Balcázar, IgnacioHamann, Ute5/19/2020 17:562020-05-19T22:56:51Z2009-03-31orres, D., Rashid, MU, Seidel-Renkert, A. et al. Ausencia de la mutación BRCA1 del (exones 9-12) en familias con cáncer de mama / ovario fuera de los hispanos mexicanos. Breast Cancer Res Treat 117, 679–681 (2009). https://doi.org/10.1007/s10549-009-0383-4https://link.springer.com/article/10.1007%2Fs10549-009-0383-4#citeashttps://link.springer.com/content/pdf/10.1007/s10549-009-0383-4.pdfhttp://hdl.handle.net/10818/4112310.1007/s10549-009-0383-41573-72173 páginasThe frequency and spectrum of germ line mutations in the high-penetrance breast cancer susceptibility genes BRCA1 and BRCA2 shows considerable variation by ethnic group. Most genetic epidemiological studies of the BRCA genes have been performed among Caucasian populations [1], with the exception of a few studies involving other ethnic groups, such as Hispanics [2–4], Asians [5, 6], and African Americans [7–9]. In most of these studies only the frequencies of sequence detectable BRCA mutations were reported and large genomic rearrangements including deletions and insertions of one or more exons, which account for 6–15% of all deleterious mutations in these genes have infrequently been considered [10–12]. Most BRCA mutations are unique; however, few recurrent mutations with founder effects have been found in European, Hispanic, American and Asian populations [13]. In a recent study on Hispanic high-risk breast/ovarian cancer families of mainly Mexican descent from South California, Weitzel and colleagues reported the identification of a novel deletion of BRCA1 exons 9 through 12 using multiplex quantitative differential polymerase chain reaction (PCR) analysis. The deletion was detected in 3.8% of families negative for sequence detectable BRCA mutations [14]. The large genomic rearrangement mutation is considered deleterious as it results in loss of critical functional domains as well as premature truncation of the BRCA1 protein. Given the relatively high prevalence of the deletion in this cohort, the authors suggest to include the screening for this mutation in the genetic testing strategy in Hispanic women without sequence detectable BRCA mutations.application/pdfengBreast Cancer Res TreatBreast Cancer Res Treat (2009) 117:679–681Attribution-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 SabanaBRCA1Genomic rearrangementsExon 9–12 deletionEthnic groupsAbsence of the BRCA1 del (exons 9–12) mutation in breast/ovarian cancer families outside of Mexican HispanicsAusencia de la mutación BRCA1 del (exones 9-12) en familias con cáncer de seno / ovario fuera de hispanos mexicanosarticlepublishedVersionhttp://purl.org/coar/version/c_970fb48d4fbd8a85http://purl.org/coar/resource_type/c_6501CC-LICENSElicense_rdflicense_rdfapplication/rdf+xml; charset=utf-8805https://intellectum.unisabana.edu.co/bitstream/10818/41123/2/license_rdf4460e5956bc1d1639be9ae6146a50347MD52LICENSElicense.txtlicense.txttext/plain; charset=utf-8498https://intellectum.unisabana.edu.co/bitstream/10818/41123/3/license.txtf52a2cfd4df262e08e9b300d62c85cabMD5310818/41123oai:intellectum.unisabana.edu.co:10818/411232022-05-10 05:20:05.511Intellectum Universidad de la Sabanacontactointellectum@unisabana.edu.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

Absence of the BRCA1 del (exons 9–12) mutation in breast/ovarian cancer families outside of Mexican Hispanics

Publicaciones similares