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 |