Working Group – European MMR Group

Date: Monday 24 September 2018
Time: 13:30 – 17:00

Session Speaker Time
RNA and splicing analyses
Introduction: splicing variants and methods of analysis Alexandra Martins + Monika Morak 13.30-13.55
Standardization of a high throughput cDNA analysis and generation of SOPs Elke Holinski-Feder 13.55-14.10
Interpretation rules for cDNA results Marta Pineda 14.10-14.35
Selected abstract presentations    
A63: Comprehensive constitutional (epi)genetic characterization of Lynch-like patients Marta Pineda 14.35-14.45
A84: Etiology and characterization of Lynch-like Syndrome Patients Mar Giner Calabuig 14.45-14.55
Break 14.55-15.15
Tumour signatures and variant classification Gabriel Capella 15.15-15.40
Functional protein tests            
Functional analyses of protein variants and promoter variants: strengths and limitations Guido Plotz 15.40-16.15
Selected abstract presentations    
A05: A functional assay-based procedure to classify mismatch repair gene variants in Lynch Syndrome Lene Juel Rasmussen


A55: Discordant IHC MMR staining and MSI results in tumors of MSH6 mutation carriers Sanne ten Broeke 16.27-16.37
A58: Characterisation of mismatch repair variants submitted to the International Mismatch Repair Consortium (IMRC) Jeanette Reece 16.37-16.47