ERN: GENTURIS Gene-c Tumour Risk Syndromes Prof Nicoline Hoogerbrugge MD, PhD Coordinator Barcelona ESHG
AIM of ERN GENTURIS Improving the iden@fica@on, diagnosis of a wide range of inherited syndromes predisposing for tumour development at any stage during life and preven@on of cancer.
Healthcare Pa@ents ERN Healthcare providers Patients at risk Pa@ent empowerment Crea@ng general awareness Identification Diagnosis Surveillance, Risk reducing surgery and treatment Mul@ple or one-stop inves@ga@on by GENTURIS expert team member Con@nued care within GENTURIS or referral to other ERN for rare manifesta@ons or to general care for common manifesta@ons Guidelines Teaching and training Guidelines Teaching Care, counseling Data- and biobanking Research Care Gene@c counseling Guidelines Teaching Care, counseling Data- and biobanking Research Provide exper@se and MDA to HCPs All HCPs including GP s Clinical gene@cists Molecular diagnos@c gene@cists In mul@disciplinary team Mul@disciplinary HCP experts Depending on HCPs syndrome relevant and to risks and manifesta@ons symptoms of
Scope of diseases Inherited syndromes predisposing for tumour development at any stage during life: Gene@c cause is known Manifesta@ons affect mul@ple organs Tumours can be benign or malignant Most malignant tumours are common cancers Iden@fica@on and diagnosis is difficult Tumour preven@on (surveillance and risk-reducing treatment) require a mul@disciplinary team Personalized treatment based on germline muta@ons Healthy rela@ves at risk do not receive proper auen@on when index case is not recognized
Thema-c groups 1. Neurofibromatosis NF1, NF2, Schwannomatosis 2. Lynch syndrome and polyposis Lynch Syndrome, Muir-Torre Syndrome (auenuated) familial adenomatous polyposis MYH-Associated Polyposis, DNA polymerase proofreading associated-polyposis NTLH1 associated polyposis, Turcot Syndrome Juvenile Polyposis Syndrome, Peutz-Jeghers syndrome Hereditary mixed polyposis, Serrated polyposis syndrome 3. Hereditary breast and ovarian cancer 4. Other rare predominantly malignant- genturis PTEN hamartoma tumour syndromes Li-Fraumeni Syndrome Birt-Hogg-Dubé Syndrome FAMMM Small Cell Carcinoma of the Ovary, Hypercalcaemic Type Hereditary diffuse gastric cancer (CDH1)
Disease expansion plan Paraganglioma Xeroderma Pigmentosa Carney Complex Hereditary Papillary Renal Carcinoma Ataxia-Telangiectasia Tuberous sclerosis Bloom syndrome Gastrointes@nal polyposis syndromes Nevoid basal cell carcinoma syndrome Werner Syndrome Hereditary Leiomyomatosis and Renal Cell Cancer Newly detected gene@c causes of cancer
ERN Board: Structure of ERN GENTURIS Advisory board Project bureau Execu-ve commiqee: Research Board Na-onal coordinators, Neurofibro matosis Lynch sydrome & polyposis Hereditary breast and ovarian cancer Other rare - predomintantly malignant - genturis Ethical, legal social implica@ons Guidelines, outcome measures and Quality Control Teaching and training Pa@ent par@cipa@on and empowerment Data registra@on and biobanking Networking and collabora@on Cross border healthcare Communica@on and dissemina@on
Why is this ERN necessary? Unique Points: Predisposi@on of common cancers of various organ systems Preven@on directed (including surveillance and risk-reducing treatment) and personalized treatment based on germline muta@ons. Rela@ves included
Why is this ERN necessary? Unique Points: Predisposi@on of common cancers of various organ systems Preven@on directed (including surveillance and risk-reducing treatment) and personalized treatment based on germline muta@ons. Rela@ves included Cancer not rare Mul@iple organ systems Cancer preven@on Healthy individuals
Mul-disciplinary Professionals Inclusive, no compe@@on, when mee@ng the criteria: Na@onal endorsement Minimum requirements Numbers of pa@ent in the thema@c groups Output: research, guidelines, boards. From at least 8 countries and 10 centers
ERN: Gene@c Tumour Risk Syndromes Exper@se centers (full members) Endorsed HCP Endorsement likely Endorsement 2017? No member yet
5. ERN Network applica-on - Introduc@on and inventory: (un@l 09.45u) What are the most important problems that need an answer now. - Discussion in 4 groups (un@l 10.45u) - Answers by per group in 15 minutes (un@l 12.00u) - What will be ready in 5 years from now? - Be prac@cal, write in bullets (no complete sentences needed)
6. HCP applica-on and self-assessment - Introduc@on and inventory: (un@l 10.45u) What are the most important problems that need an answer now. - Discussion in 4 groups (un@l 11.45u) - Answers by per group in 15 minutes (un@l 13.00u) - What will be ready in 5 years from now? - Be prac@cal, write in bullets (no complete sentences needed)