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dc.creatorRivera Herrera, Ana Lucia-
dc.creatorCifuentes Cardona, Laura Fernanda-
dc.creatorGil Vera, Ja-
dc.creatorBarreto, Guillermo-
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
dc.description.provenanceMade available in DSpace on 2021-12-16T22:15:45Z (GMT). No. of bitstreams: 0 Previous issue date: 2018en
dc.publisherF1000 Research
dc.subjectcheckpoint kinase 2es
dc.subjectallele specific polymerase chain reactiones
dc.subjectbreast canceres
dc.subjectcancer riskes
dc.subjectcancer screeninges
dc.subjectcancer susceptibilityes
dc.subjectCHEK2 genees
dc.subjectclinical featurees
dc.subjectcohort analysises
dc.subjectcontrolled studyes
dc.subjectcross-sectional studyes
dc.subjectgene functiones
dc.subjectgene mutationes
dc.subjectgenetic screeninges
dc.subjectmajor clinical studyes
dc.subjectovary canceres
dc.subjectrisk factores
dc.subjectsocial statuses
dc.titleAbsence of the CHEK2 c.1100delC mutation in familial breast and ovarian cancer in Colombia: a case-control studyes
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
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