ERN: GENTURIS Gene-c Tumour Risk Syndromes

Size: px

Start display at page:

Download "ERN: GENTURIS Gene-c Tumour Risk Syndromes"

Mervin Marsh
5 years ago
Views:

1 ERN: GENTURIS Gene-c Tumour Risk Syndromes Prof Nicoline Hoogerbrugge MD, PhD Coordinator Barcelona ESHG

2 AIM of ERN GENTURIS Improving the 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

3 Healthcare ERN Healthcare providers Patients at risk empowerment general awareness Identification Diagnosis Surveillance, Risk reducing surgery and treatment or one-stop by GENTURIS expert team member care within GENTURIS or referral to other ERN for rare or to general care for common Guidelines Teaching and training Guidelines Teaching Care, counseling Data- and biobanking Research Care counseling Guidelines Teaching Care, counseling Data- and biobanking Research Provide 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

4 Scope of diseases Inherited syndromes predisposing for tumour development at any stage during life: cause is known affect organs Tumours can be benign or malignant Most malignant tumours are common cancers and diagnosis is difficult Tumour (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

5 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)

6 Disease expansion plan Paraganglioma Xeroderma Pigmentosa Carney Complex Hereditary Papillary Renal Carcinoma Ataxia-Telangiectasia Tuberous sclerosis Bloom syndrome polyposis syndromes Nevoid basal cell carcinoma syndrome Werner Syndrome Hereditary Leiomyomatosis and Renal Cell Cancer Newly detected causes of cancer

7 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

8 Why is this ERN necessary? Unique Points: of common cancers of various organ systems directed (including surveillance and risk-reducing treatment) and personalized treatment based on germline included

9 Why is this ERN necessary? Unique Points: of common cancers of various organ systems directed (including surveillance and risk-reducing treatment) and personalized treatment based on germline included Cancer not rare organ systems Cancer Healthy individuals

10 Mul-disciplinary Professionals Inclusive, no when the criteria: endorsement Minimum requirements Numbers of in the groups Output: research, guidelines, boards. From at least 8 countries and 10 centers

11 ERN: Tumour Risk Syndromes centers (full members) Endorsed HCP Endorsement likely Endorsement 2017? No member yet

14 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)

15 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)

Clinical Cancer Genetics

Clinical Cancer Genetics Lisen Axell, MS, CGC University of Colorado Cancer Center Individuals with cancer Making surgical decisions (lump vs. mast) Making treatment decisions (XRT) Concerns for additional