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Genetics and hereditary cancer

Organizer: Fernando Regateiro e Henriqueta Coimbra Silva

Date: 16 - 20 March 2020

Background and Goals:

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.


- 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


Fernando Regateiro, Henriqueta Coimbra Silva, Jorge Saraiva e Ana Teresa A Santos , Júlio Leite, António Manso, Jorge Saraiva, Margarida Silvestre (FMUC), João Loureiro (FDUC),  Sheila Martins, Sónia Silva, Renata Oliveira, Cláudia Piedade, Alexandra Paúl (CHUC), Gabriela Souasa (IPO  Coimbra), Manuel Lemos (UBI), Manuel Teixeira (ICBAS), José Carlos Machado (IPATIMUP), Álvaro Mendes (IBMCUP e UA), João Jesus Hernandez (Univ. Salamanca)


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- 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