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Genetic and epigenetic characteristics of breast and ovarian cancer
Bulgaria (AMSB) - Medical University of Sofia, Sofia
Molecular Medicine Center, Department of Medical Chemistry and Biochemistry, Medical University of Sofia,
Academician Prof. Vanio Mitev, MD, PhD, DSc
Assoc. Prof. Radka Kaneva, PhD; Chief Assist. Prof. Atanaska Mitkova, PhD; Rumyana Dodova, PhD; Silva Giragosyan, PhD student
Type of Research Project
- Clinical Project with Laboratory work
What is the background of the project?
The etiology of breast and ovarian carcinomas is multifactorial and includes environmental and genetic factors, as well as genetic and epigenetic changes during progression. Germline mutations in the highly penetrant cancer susceptible genes BRCA1/2 account for the majority of the cases with hereditary breast and ovarian cancer. Other less common genes have been also associated with high (TP53, PALB2, PTEN), moderate (CHEK2, ATM, NF1, NBN), elevated, but imprecise (CDH1, STK11) breast and ovarian cancer risk (MMR genes, RAD51D, BRIP1). The mutation screening of these tumour-associated genes, epigenetic changes( promoter methylation of key tumour suppressor genes) is of great importance for risk assessment, prophylactics and treatment of the affected individuals in high-risk breast/ ovarian cancer families.
What is the aim of the project?
The aim of the project is to identify the genetic and epigenetic characteristics of breast and ovarian cancer in Bulgarian patients.
What techniques and methods are used?
Deoxyribonucleic acid (DNA) isolation, DNA quantitation, analysis of DNA on agarose gel electrophoresis, PCR (Polymerase Chain Reaction), DNA sequencing, MLPA (Multiplex Ligation-dependent Probe Amplification) MS-MLPA (Methylation-Specific Multiplex Ligation-dependent Probe Amplification)
What is the role of the student?
- The tasks will be done under supervision
What are the tasks expected to be accomplished by the student?
The student will be expected to take active part in the research project. This will include: - review of the literature on his/her own, - participation in scientific discussions and seminars, - lab work (including DNA preparation, polymerase chain reaction, agarose electrophoresis, Sanger sequencing, next-generation sequencing, etc.), and analysis of the results under supervision. Written report and oral presentation on the objectives, methodology and results of the student’s work.
Will there be any theoretical teaching provided (preliminary readings, lectures, courses, seminars etc)
Preliminary readings, participation in scientific discussions and seminars discussions with the supervisors and lab training.
What is expected from the student at the end of the research exchange? What will be the general outcome of the student?
- The student will prepare a poster - The student will prepare a presentation - The student will prepare a scientific report
What skills are required of the student? Is there any special knowledge or a certain level of studies needed?
The student would need to have taken university level courses in genetics and biochemistry and/or molecular biology. Good command of the English language is a must, as well as basic computer skills (Windows OS, Microsoft Office – Word, Excel, Power Point). Experience with the most common molecular biology databases, e.g. PubMed, Online Mendelian Inheritance in Man (OMIM), The Exome Aggregation Consortium (ExAC) and Ensembl ( genome browser for vertebrate genomes ), is a plus. Subjects passed: university level courses in genetics and biochemistry and/or molecular biology Previous experience with: molecular genetic techniques and use of most common molecular biology databases, e.g. PubMed, OMIM, Ensemble etc., is a plus
Are there any legal limitations in the student’s involvement
Type of students accepted
This project accepts: - Medical students - Graduated students (less than 6 months) - Pre-Medical students from the American-British system - Students in biomedical fields
- Dacheva D; Dodova R; Popov I; Goranova T; Mitkova A; Mitev V; Kaneva R. Validation of an NGS Approach for Diagnostic BRCA1/BRCA2 Mutation Testing. Mol Diagn Ther. 2015 Apr;19(2):119-30. doi: 10.1007/s40291-015-0136-5. PMID:25893891
- Dodova RI; Mitkova AV; Dacheva DR; Hadjo LB; Vlahova AI; -Hadjieva MS; Valev SS; Caulevska MM; Popova SD; Popov IE; Dikov TI; Sedloev TA; Ionkov AS; Timcheva KV; Christova SL; Kremensky IM; Mitev VI; Kaneva RP. Spectrum and frequencies of BRCA1/2 mutations in Bulgarian high risk breast cancer patients. BMC Cancer. 2015 Jul 17;15:523. doi: 10.1186/s12885-015-1516-2. PMID:26183948.
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