Genetics and Hereditary Cancer

Recommended Prerequisites

The students should have basic knowledge on biology,genetics and oncobiology and be able to read and understand papers in English.

Teaching Methods

- Theoretical classes: lectures

- Pratical work: calculating the probability of harbouring a BRCA1/2 muttaion ; training exercise on the identification and classification of a genetic variant;

- Presentation and discussion of scientific papers

- Proposal of a research project.

Learning Outcomes

The students should be able:

- to understand the basic genetics and molecular mechanisms involved in cancer development, and particularly in hereditary cancer;

- to understand the need for a multidisciplinary and specialized team;

- to identify cases suspected of being hereditary cancers, and describe how to study them;

-  to identify family members in risk of being mutation carriers and to calculate this risk;

- to understand the limitations of genotyping and the difficulties in assessing genotype/phenotype correlations;

- to understand the major psychological and psychiatric problems associated with familial cancers and know the basic rules how to deal with them;

- to know the major legal issues concerning genetic counseling of familial cancer;

- to identify new areas of basic, translational and clinical research.

Work Placement(s)

No

Syllabus

- The programme includes:

- A general survey on specific fundamental aspects of cancer genetics;

- The presentation of the most frequent hereditary syndromes: hereditary breast and ovarian cancer syndromes, colorectal cancer syndromes such as Lynch syndrome, familial adenomatous polyposis and MYH associated polyposis, retinoblastoma, hereditary endocrine neoplasias and Li Fraumeni syndrome;

- The presentation of each syndrome  in a translational and multi-disciplinary perspective, from molecular mechanisms, to the "state of the art" at the clinical level, with a particular focusing on genotype/phenotype correlations, the advances concerning diagnosis, treatment, follow-up and prevention, as well as genetic counselling;

-Discussion will also concern the identification of mutation carriers, risk reduction surgery and chemoprevention, as well as psychosocial, ethical and legal issues related with hereditary cancer cases.

Head Lecturer(s)

Fernando Jesus Regateiro

Assessment Methods

Assessment
Presentation and discussion of a scientific paper: 50.0%
Presentation of a research project: 50.0%

Bibliography

- Christinat A e Pagani O. Practical aspects of genetic counseling in breast cancer: Lights and shadows. The Breast 2013;22: 375-382.

- Wells Jr SA, Pacini F, Robinson BG e Santoro M. Multiple Endocrine Neoplasia Type 2 and Familial Medullary Thyroid Carcinoma: An Update. J Clin Endocrinol Metab 2013;98: 3149–3164.

- Malkin D. Li-Fraumeni Syndrome. Genes & Cancer 2011;2:475–484.

- National Retinoblastoma Strategy Canadian Guidelines for Care Stratégie thérapeutique du rétinoblastome guide clinique canadien. Canadian J of Ophtlamology, vol.44, suppl.2, 2009.

- Stoffel EM e Chittenden A. Genetic Testing for Hereditary Colorectal Cancer: Challenges in Identifying, Counseling, and Managing High-Risk Patients. Mini-reviews and perspectives. Gastroenterology 2010;139:1436–1441.

- Tutlewska K, Lubinski J e Kurzawski G. Germline deletions in the EPCAM gene as a cause of Lynch syndrome – literature review. Hereditary Cancer in Clinical Practice 2013, 11:9