Registries Working Group

Date: Friday 18 October 2019
Time: 16:00 – 18:00
Chairs: Christoph Engel (Germany), Pål Moller (Norway)

Time Session
16:00 – 16:10 OFELy French Registry: National Database and Biological Resources for Lynch Syndrome Research – Youenn Drouet (France)
16:10 – 16:20 The German Lynch syndrome registry – Christoph Engel (Germany)
16:20 – 16:30 Clinical and research utility of setting up a register for carriers of a hereditary cancer predisposition: Experience of a clinical genetics service – Kelly Kohut (UK)
16:30 – 16:40 The CMMRD registry – Chrystelle Colas (France)
16:40 – 16:50 The Spanish Lynch Syndrome registry – Gabriel Capella (Spain)
16:50 – 17:00 Latin American Lynch Syndrome registries – Mev Dominguez Valentin (Norway)
17:00 – 17:10 Early Experience of a New Colorectal Familial Clinic – Rory Kennelly (UK)
17:10 – 17:20 Discussion
17:20 – 17:30 Expert curation of germline APC sequence variants through further development of the InSiGHT LOVD and specification of the ACMG/AMP classification guidelines – Stefan Aretz (Germany)
17:30 – 17:40 How to identify and classify low penetrant variants, in casu PMS2? – Pål Moller (Norway)
17:40 – 17:50 Incidence of colorectal neoplasia among young patients with Lynch syndrome. Results of the PRED-IdF cohort – Guillaume Perrod (France)
17:50 – 18:00 Possible reasons why colonoscopy does not substantially prevent colon cancer in carriers of pathogenic MMR variants – Pål Moller (Norway)
18:00 – 18:10 Discussion
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