MMR / Variant Interpretation Working Group

Date: Friday 18 October 2019
Time: 13:30 – 15:30
Chair: Monika Morak (Germany), Hein te Riele (The Netherlands)

Time Session
13:30 – 13:50 DiagMMR, the carrier test to detect inherited MMR deficiency – Minna Nystrom (Finland)
13:50 – 13:57 High-sensitivity micro satellite instability assessment for the detection of mismatch repair defects in normal tissue of biallelic germline mismatch repair mutation carriers – Fátima Marín (Spain)
13:57 – 14:04 High throughput sequence analysis of EMAST (elevated microsatellite alterations at selected tetranucleotide repeats) in Lynch and non-Lynch tumours – Michael Jackson (UK)
14:04 – 14:11 Prevalence of mismatch repair deficiency and Lynch syndrome in small bowel carcinomas and neuroendocrine tumours – Manon Suerink (The Netherlands)
14:11 – 14:31 Full transcript cDNA analyses to test variant splicing and transcript integrity of MMR genes – Monika Morak (Germany)
14:31 – 14:38 CMMRD diagnosis in three cases: verification of PMS2 variants in homozygous status and investigation of their pathogenicity by cDNA analyses – Monika Morak (Germany)
14:38 – 14:53 A highly predictive functional assay-based procedure to classify mismatch repair gene variants – Neils de Wind (The Netherlands)
14:53 – 15:08 Moving MMR functional assays to clinical diagnostics and ODMS assay – Hein te Riele (The Netherlands)
15:08 – 15:18 INVUSE: investigating variants of uncertain significance for use in clinical practice – Hein te Riele (The Netherlands), Niels de Wind (The Netherlands), Rolf Sijmons (the Netherlands)
15:18 – 15:23 Closing remarks