Working Group – European MMR Group

Date: Monday 24 September 2018
Time: 13:30 – 17:15

Chairs: Gabriel Capella (Spain), Elke Holinski-Feder (Germany), Monika Morak (Germany)

Time Session
13:30 – 14:35 RNA and Splicing Analyses
13:30 – 13:55 Introduction: splicing variants and methods of analysis – Alexandra Martins (France), Monika Morak (Germany)
13:55 – 14:10 Standardization of a high throughput cDNA analysis and generation of SOPs – Elke Holinski-Feder (Germany)
14:10 – 14:35 Interpretation rules for cDNA results – Marta Pineda (Spain)
14:35 – 15:40 Selected Abstract Presentations
14:35 – 14:45 N57: Comprehensive constitutional (epi)genetic characterization of Lynch-like patients – Marta Pineda (Spain)
14:45 – 14:55 N65: Etiology and characterization of Lynch-like Syndrome Patients – Mar Giner Calabuig (Spain)
14:55 – 15:20 Tumour signatures and variant classification – Gabriel Capella (Spain)
15:20 – 15:40 Coffee break
15:40 – 16:15 Functional Protein Tests
15:40 – 16:15 Functional analyses of protein variants and promoter variants: strengths and limitations – Guido Plotz (Germany)
16:15 – 17:15 Selected Abstract Presentations
16:15 – 16:27 N34: A functional assay-based procedure to classify mismatch repair gene variants in Lynch syndrome – Lene Juel Rasmussen (Denmark)
16:27 – 16:37 N53: Discordant IHC MMR staining and MSI results in tumors of MSH6 mutation carriers – Manon Suerink (The Netherlands)
16:37 – 16:47 N54: Characterisation of mismatch repair variants submitted to the International Mismatch Repair Consortium (IMRC) – Jeanette Reece (Australia)
16:47 – 17:15 Discussion
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