Please use this identifier to cite or link to this item: http://hdl.handle.net/20.500.12494/16000
Exportar a:
Title: Absence of the CHEK2 c.1100delC mutation in familial breast and ovarian cancer in Colombia: a case-control study
Author: Cifuentes-C, Laura
Rivera-Herrera, Ana-Lucia
Gil-Vera, JA
Barreto, Guillermi
Email autor: laura.cifuentesc@campusucc.edu.co
metadata.dc.description.cvlac: https://scienti.minciencias.gov.co/cvlac/visualizador/generarCurriculoCv.do?cod_rh=0000260819
Issue Date: 9-Jul-2018
Keywords: CHEK2
Familial breast and ovarian cancer
Colombia
CHEK2 c.1100delC
Moderate-penetrance
Resume: Background: 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.
Abstract: Background: 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.
Program: Odontología
Headquarters: Pasto
Type: Artículo
Citation: Rivera-Herrera, A. L., Cifuentes-C, L., Gil-Vera, J. A., & Barreto, G. (2018). Absence of the CHEK2 c. 1100delC mutation in familial breast and ovarian cancer in Colombia: A case-control study. F1000Research, 7, 1032. Recuperado de:
Resource reference: https://f1000research.com/articles/7-1032
Appears in Collections:Medicina

Files in This Item:
File Description SizeFormat 
Absence of the CHEK2-2018-PDF_Articulo.pdfartículo completo en pdf326.65 kBAdobe PDFView/Open Request a copy


Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.