Please use this identifier to cite or link to this item: https://repository.ucc.edu.co/handle/20.500.12494/41754
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dc.creatorRivera Herrera, Ana Lucia-
dc.creatorCifuentes Cardona, Laura Fernanda-
dc.creatorGil Vera, Ja-
dc.creatorBarreto, Guillermo-
dc.date.accessioned2021-12-16T22:15:45Z-
dc.date.available2021-12-16T22:15:45Z-
dc.date.issued2018-
dc.identifierhttps://doi.org/10.15649/cuidarte.v4i1.10-
dc.identifier.issn20461402es
dc.identifier.urihttp://hdl.handle.net/20.500.12494/41754-
dc.description.abstractBackground: BRCA1 and BRCA2 have been identified as high-penetrance breast cancer predisposition genes, but they only account for a small fraction of the inherited component of breast cancer. To explain the remaining cases, a polygenic model with a large number of low-to moderate-penetrance genes have been proposed; one of these, is the CHEK2 gene (Checkpoint Kinase 2). The objective of this study was to determine the role of the CHEK2 gene, specifically the c.1100delC mutation in familial breast cancer susceptibility in Colombian patients. Methods: We screened 131 high-risk breast and/or ovarian cancer patients (negative for mutations in BRCA1 and BRCA2) and 131 controls for the germline mutation CHEK2 c.1100delC by allele-specific PCR. Results: None of the cases or controls showed the CHEK2 c.1100delC mutation, neither as a homozygote nor as a heterozygote. Conclusions: Our results suggest that the CHEK2 c.1100delC mutation is not a risk factor for genetic susceptibility to familial breast or ovarian cancer in the Colombian population. The absence of the CHEK2 c.1100delC mutation in our population show the importance of considering ethnic background before offering a genetic test. © 2018 Rivera-Herrera AL et al.es
dc.description.provenanceMade available in DSpace on 2021-12-16T22:15:45Z (GMT). No. of bitstreams: 0 Previous issue date: 2018en
dc.format.extent7-1es
dc.publisherF1000 Research Ltd.es
dc.relation.ispartofF1000Researches
dc.subjectcheckpoint kinase 2es
dc.subjectadultes
dc.subjectagees
dc.subjectallele specific polymerase chain reactiones
dc.subjectArticlees
dc.subjectbreast canceres
dc.subjectcancer riskes
dc.subjectcancer screeninges
dc.subjectcancer susceptibilityes
dc.subjectCHEK2 genees
dc.subjectclinical featurees
dc.subjectcohort analysises
dc.subjectColombiaes
dc.subjectcontrolled studyes
dc.subjectcross-sectional studyes
dc.subjectfemalees
dc.subjectgene functiones
dc.subjectgene mutationes
dc.subjectgenetic screeninges
dc.subjectgenotypees
dc.subjectheterozygotees
dc.subjecthomozygotees
dc.subjecthumanes
dc.subjectmajor clinical studyes
dc.subjectovary canceres
dc.subjectrisk factores
dc.subjectsexes
dc.subjectsocial statuses
dc.titleAbsence of the CHEK2 c.1100delC mutation in familial breast and ovarian cancer in Colombia: a case-control studyes
dc.typeArtículo-
dc.creator.maillaura.cifuentesc@campusucc.edu.coes
dc.identifier.bibliographicCitationRIVERA AL,CIFUENTES L,GIL JA,BARRETO G. Absence of the CHEK2 c.1100delC mutation in familial breast and ovarian cancer in Colombia: a case-control study. F1000Res. 2018. 7. p. 1-7. .es
dc.rights.accessRightsDesconocidoes
dc.description.orcid0000-0001-7013-1952es
Appears in Collections:Artículos Científicos

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