Abstract
Material and methods A group of 50 newly diagnosed breast and/or ovarian cancer patients carrying BRCA1 mutation was analyzed by exon-by-exon sequencing of 3 genes (GPX1, GPX4, TXNRD2) coding selenoproteins. Simultaneously a nested case-control study of 39 women with breast cancer and 7 women with ovarian cancer (blood samples for all affected carriers were collected before treatment) and 92 controls matched 1 to 2 cases has been conducted and changes detected by sequencing have been analyzed. Additional case – control studies were performed on 45 pairs 1:2 matched for GPX1 (rs1050450). All cases and controls were matched for age at enrolment, past history of breast cancer and oophorectomy. All these patients were carriers of one of three Polish founder BRCA1 mutation. In these patients plasma selenium level has been determined. The following techniques for laboratory analyses have been applied: a) sequencing on (ABI310), b) SimpleProbe or Taqmqan analysis (a melting-curve genotyping with fluorescence-labeled probes based on the LightCycler 480 System (Roche Applied Science)), c) determination of selenium concentration in plasma using atomic absorption spectrometer AAnalyst600 (Perkin Elmer).
Highlights
Open AccessK Jaworska*, A Jakubowska, T Huzarski, K Durda, P Serrano-Fernandez, G Sukiennicki, M Muszyńska, T Byrski, J Gronwald, S Gupta, J J Lubiński
Aim of the study Identification of genetic variations in genes related to metabolism of selenium, including glutathione peroxidases (GPX) and thioredoxin reductases (TXNRD) as markers for breast cancer and/or ovarian cancer risks in carriers of BRCA1 gene mutation: analysis of selected changes in the subgroups, depending on the plasma selenium concentration
Material and methods A group of 50 newly diagnosed breast and/or ovarian cancer patients carrying BRCA1 mutation was analyzed by exon-by-exon sequencing of 3 genes (GPX1, GPX4, TXNRD2) coding selenoproteins
Summary
K Jaworska*, A Jakubowska, T Huzarski, K Durda, P Serrano-Fernandez, G Sukiennicki, M Muszyńska, T Byrski, J Gronwald, S Gupta, J J Lubiński. From Annual Conference on Hereditary Cancers 2010 Szczecin, Poland. Aim of the study Identification of genetic variations in genes related to metabolism of selenium, including glutathione peroxidases (GPX) and thioredoxin reductases (TXNRD) as markers for breast cancer and/or ovarian cancer risks in carriers of BRCA1 gene mutation: analysis of selected changes in the subgroups, depending on the plasma selenium concentration
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
