Oncogenetics

Recommended Prerequisites

Knowledge of biology, genetics, biochemistry and molecular biology in the pre graduate cycle of courses in the scope of Life Sciences and Biomedical Sciences.

Teaching Methods

Theoretical classes: lectures using power point presentations

- Practical classes: to discuss and solve problems of genetic counselling and analyse laboratory results; for training using web sites and data bases concerning oncogenetics.

- Self learning / homework: training exercises.

Learning Outcomes

Explain the main characteristics of cancer and the phenotype of cancer cells; describe the molecular mechanisms of carcinogenesis, identify the main genes and variants involved; explain the importance of local microenvironment; explain the importance of tumoral genetic heterogeneity; identify familial/monogenic cancer; identify and analyze specific situations such as  incomplete penetrance, variable expression, neomutations and mosaicism; select the appropriate molecular methodologies; describe the clinical applications of tumoral molecular profile; describe the applications and complexities of liquid biopsy; analyze clinical cases and  lab results; write a correct report of a genetic result; identify and solve cases of complex or doubtful results.   

Work Placement(s)

No

Syllabus

1.Carcinogenesis  

2. Familial/monogenic cancer  vs multifactorial cancer

3. Basic concepts : allelic heterogeneity, locus heterogeneity, incomplete penetrance, variable expression, penetrance with age, neomutations, constitutional mosaicism; founder mutations, hot-spot mutation sites; guidelines for variants classification, index case

4. Colorectal and breast cancer examples: 4.1 monogenic syndromes – identification of causal genetic variant; analysis of clinical cases; 4.2 – identification of tumor molecular profile for diagnosis and therapeutic selection, analysis of clinical cases and of laboratory results.

5. Lung cancer – characterization of tumor molecular profile

6. Liquid biopsy

7. Hematological cancer: classic genetic characterization and genomic approaches

8. Genetic counselling of familial cancer: principles (including how to report genetic results) and legislation

9. Validation of new technologies.

Head Lecturer(s)

Henriqueta Alexandra Mendes Breda Lobo Coimbra Silva

Assessment Methods

Assessment
The evaluation consists of a multiple-choice questions and/or others types : 100.0%

Bibliography

- Human Molecular Genetics 4; Tom Strachen&Andrew P. Read – capítulo de genética do cancro

- Thompson&Thompson, Genetics in Medicine, 8ª Edição - – capítulo de genética do cancro;

- GeneReviews (on line), para os diferentes síndromas;

- Serão dadas referências atualizadas sobre as orientações nacionais e internacionais para a abordagem molecular das patologias abordadas.

- Artigos de revisão/aplicação atualizados

- Apresentações ou outros documentos dos docentes.