Applied Oncobiology
Keywords |
Classification |
Keyword |
OFICIAL |
Medicine |
Instance: 2019/2020 - 2S (of 10-02-2020 to 31-07-2020)
Cycles of Study/Courses
Teaching language
Suitable for English-speaking students
Objectives
Tumor biology and genetics
- Describe the mechanisms yielding to genetic variation, and be familiar with the various types of genetic variants.
- Distinguish hereditary genetic anomalies from acquired genetic anomalies.
- Discuss the advantages and limitations of different genetic laboratory methodologies for diagnostic testing.
- Demonstrate how to interpret non-hotspot mutations using public databases and taking into account overall genomic aberrations and clonal evolution.
- Be aware of ethical implications of incidental genetic findings.
Molecular pathology
- Understand the basics (procedures and rules) of an accredited clinical laboratory.
- Gain knowledge about different types of specimens (e.g. tissue biopsy, cytology, resections).
- Get familiar with all the steps that lead from samples collection to final molecular report generation along with all possible bottlenecks.
- Have an overview about the currently used technological platforms in molecular diagnostics (comparison with the research setting).
- Get familiar with the most common clinically relevant variants along with their interpretation and classification system.
Bioinformatics
- Communicate efficiently with bioinformaticians.
- Describe a bioinformatics analysis pipeline to call mutations from NGS data.
- Perform quality control at the run, read and variant levels.
- Use off-the-shelf bioinformatics tools to annotate and support the interpretation of variants.
- Consider hardware, security and privacy issues when managing omics data.
- Understand how artificial intelligence contributes to and will further impact personalized oncology.
Applied oncobiology
- Describe main intracellular signaling pathways in solid tumors and molecular aberrations hampering this signaling.
- Get detailed knowledge of immunological mechanisms and how these may be used to optimize therapeutic approaches.
- Get a basic understanding of the principles underlying the design and analysis of clinical trials in oncology.
- Understand the importance of predictive markers in molecular oncology.
- Get familiar with the most frequent molecular aberrations in solid tumors and routinely used targeted therapies.
Learning outcomes and competences
Tumor biology and genetics
- Describe the mechanisms yielding to genetic variation, and be familiar with the various types of genetic variants.
- Distinguish hereditary genetic anomalies from acquired genetic anomalies.
- Discuss the advantages and limitations of different genetic laboratory methodologies for diagnostic testing.
- Demonstrate how to interpret non-hotspot mutations using public databases and taking into account overall genomic aberrations and clonal evolution.
- Be aware of ethical implications of incidental genetic findings.
Molecular pathology
- Understand the basics (procedures and rules) of an accredited clinical laboratory.
- Gain knowledge about different types of specimens (e.g. tissue biopsy, cytology, resections).
- Get familiar with all the steps that lead from samples collection to final molecular report generation along with all possible bottlenecks.
- Have an overview about the currently used technological platforms in molecular diagnostics (comparison with the research setting).
- Get familiar with the most common clinically relevant variants along with their interpretation and classification system.
Bioinformatics
- Communicate efficiently with bioinformaticians.
- Describe a bioinformatics analysis pipeline to call mutations from NGS data.
- Perform quality control at the run, read and variant levels.
- Use off-the-shelf bioinformatics tools to annotate and support the interpretation of variants.
- Consider hardware, security and privacy issues when managing omics data.
- Understand how artificial intelligence contributes to and will further impact personalized oncology.
Applied oncobiology
- Describe main intracellular signaling pathways in solid tumors and molecular aberrations hampering this signaling.
- Get detailed knowledge of immunological mechanisms and how these may be used to optimize therapeutic approaches.
- Get a basic understanding of the principles underlying the design and analysis of clinical trials in oncology.
- Understand the importance of predictive markers in molecular oncology.
- Get familiar with the most frequent molecular aberrations in solid tumors and routinely used targeted therapies.
Working method
Presencial
Program
Tumor biology and genetics
- Basic cytogenetics and molecular genetics
- Hereditary vs. acquired genetics
- Genetic recombination, DNA damage and repair
- Solid tumors and hematological malignancies
- Genetic predisposition to cancer
- Diagnostic genetic testing
- Clonal evolution & tumor heterogeneity
Molecular pathology
- Sample classification and preparation
- Principles of nucleic acids extraction
- Sequencing platforms and setup
- Understanding gene panels
- Internal / external Quality controls
- Laboratory accreditation
- Reporting genomic variants
- Interpreting a molecular profile
Bioinformatics
- Data pre-processing
- Read mapping
- Variant calling
- Quality control
- Variant annotation
- Hardware, security, privacy
Applied oncobiology
- Tumor Physiology
- Tumor Immunology
- Cancer Statistics and Epidemiology
- Prognostic and Predictive Markers
- Targeted Therapies in Clinical Oncology
- Risks / probabilities for the interpretation of genetic results and counseling
- Clinical Trials in Molecular Oncology
Mandatory literature
Mendelsohn, A. C., Gray, J. E., Howley, A., Israel, S. J., & Lindsten, T. ; The Molecular Basis of Cancer , Elsevier Saunders, 2015. ISBN: 9781455740666
Choudhuri, S. ; Bioinformatics for Beginners, Oxford: Academic Press, 2014. ISBN: 9780124104716
Hanahan, D., & Weinberg, R. A. ; Hallmarks of cancer: the next generation, Cell, 144(5), 646-674, 2011. ISBN: doi:10.1016/j.cell.2011.02.013
Cree, I. A., Deans, Z., Ligtenberg, M. J., Normanno, N., Edsjo, A., Rouleau, E., . . . Royal College of, P.; Guidance for laboratories performing molecular pathology for cancer patients, J Clin Pathol, 67(11), 923-931, 2014. ISBN: doi:10.1136/jclinpath-2014-202404
Teaching methods and learning activities
The unit consists of 4 modules consisted of 2h classes: the module of
Biology and Tumor Genetics will be composed of 3 theoretical classes; the
Molecular pathology module will be composed of 3 theoretical classes and 1 theoretical-practical class; the
Bioinformatics module will be 2 theoretical-practical classes and 1 theoretical and the module
Appplied oncobiology will be 4 theoretical classes.
keywords
Health sciences > Medical sciences > Medicine > Oncology
Health sciences > Medical sciences > Medicine > General pathology
Evaluation Type
Distributed evaluation with final exam
Assessment Components
Designation |
Weight (%) |
Participação presencial |
20,00 |
Exame |
80,00 |
Total: |
100,00 |
Amount of time allocated to each course unit
Designation |
Time (hours) |
Estudo autónomo |
53,00 |
Frequência das aulas |
28,00 |
Total: |
81,00 |
Eligibility for exams
The final grade takes the form of a continuing component of class participation and a final exam with a written test with multiple-choice questions and short-answer questions. The assessment is expressed in the scale of 0 to 20 values. Approval requires a minimum grade of 10 and a frequency of at least 75% of the planned sessions.
Calculation formula of final grade
Final grade = 0.20 X class participation + 0.80 X exam grade