Genetics and Hereditary Cancer

Recommended Prerequisites

Genética, Molecular Biology, English.

Teaching Methods

1. Seminars;
2. Individual work - assignment based on the analysis of a scientific paper;
3. Research project (long structured abstract with introduction, aims, methodologies and expected results.

Learning Outcomes

- Understand and discuss scientific papers on the field;

- Explain genetics and molecular mechanisms involved in cancer development, particularly in hereditary cancer;

- Explain the clinical characteristics of hereditary cancer and explain the advantages of identifying it;

- Perform he diagnosis of hereditary cancer (breast and ovary; colorectal; retinoblastoma; Wilms tumor; MEN 1 and 2 syndrome);

- Select the methodologies enabling the diagnosis of hereditary cancer and the identification of family carriers;

-  Describe the advantages and the complexities of the “tumour-only study” in the approach of hereditary cancer;

- Propose reproductive options to carriers of risk variants;

- Identify the complexities of hereditary cancer and propose innovative research approaches;

- Identify major impact of the hereditary cancer on psychological and mental health;

-  Identify ethical and legal issues associated with hereditary cancer genetic counseling.

Work Placement(s)

No

Syllabus

- Carcinogenesis and molecular mechanisms associated with hereditary cancer

- Clinical characteristics and advantages of identifying the hereditary cancer;

- Molecular approaches for diagnosis and major complexities;

- The tumour-only study for diagnosis and therapy selection;

- Most frequent hereditary syndromes: hereditary breast and ovarian cancer, colorectal cancer syndromes such as Lynch syndrome, familial adenomatous polyposis and MUTYH associated polyposis, retinoblastoma, Wilms tumor, hereditary endocrine neoplasias and Li Fraumeni syndrome;

- Reproduction options: gamete cryopreservataion and medically assisted reproduction

- Impact in psychilogical and menthal health

- Ethical and legal issues.

Assessment Methods

Assessment
Individual work: 30.0%
Project: 70.0%

Bibliography

1. Slides das aulas

2. Artigos científicos e guidelines (a disponibilizar).