Working Group – Genetics

Date: Monday 24 September 2018
Time: 09:00 – 12:30

Chairs: Gabriel Capella (Spain), Mev Dominguez (Norway)

Time Session
09:00 – 09:10 The algorithms used for analysing the PLSD data – Pål Møller (Norway)
09:10 – 09:30 N33: Validation and updating of Path_MLH1 in cases with class 4 and 5 genetic variants; a Prospective Lynch Syndrome Database (PLSD) report – Toni Seppälä (Finland)
09:30 09:50 N40: Validated and updated risks for and survival after cancer by age and gender in Path_MSH2 carriers; a Prospective Lynch Syndrome Database (PLSD) report – Pål Møller (Norway)
09:50 – 10:10 N07: Cancer risks by age and gender and survival after cancer in Path_MSH6 carriers: a Prospective Lynch Syndrome Database (PLSD) report – Julian Sampson (UK)
10:10 – 10:30 N37: Cancer incidences by age in Path_PMS2 carriers: a report from the Prospective Lynch Syndrome Database (PLSD) – Mev Dominguez (Norway)
10:30 – 11:00 Coffee break
11:00 – 12:10 Genetic Abstracts
(5 mins for presentation + 2 mins for questions)
Chairs: Chrystelle Colas (France), Lene Rasmussen (Denmark)
11:00 – 11:07 N66: The ICCON Australian database of Mismatch Repair Variants – Finlay Macrae (Australia)
11:07 – 11:14 N69: Interpretation of inheritable DNA variation: Room for error across genetic services? – Finlay Macrae (Australia)
11:14 – 11:21 N08: The apparent genetic anticipation in PMS2-associated Lynch syndrome families is explained by birth-cohort effect – Sanne W. ten Broeke (The Netherlands)
11:21 – 11:28 N24: Systematic linkage of all diagnostic hereditary cancer genotypes to the National Cancer Registry – Fiona McRonald (UK)
11:28 – 11:35 N50: Age-related efficiency of BRAF V600E mutational testing for the exclusion of Lynch syndrome in MSI colorectal cancers – Aysel Ahadova (Germany)
11:35 – 11:42 N72: CSTF2T and ACTB discern sporadic from FAP-associated colon carcinomas at various stages of carcinogenesis on the proteomic level – Timo Gemoll (Germany)
11:42 – 11:49 N19: Colorectal cancer risk is not increased in NTHL1 heterozygous mutation carriers – Abi Ragunathan (Australia)
11:49 – 11:56 N55: A genetic variant in telomerase gene modifies cancer risk in Lynch syndrome patients harbouring MSH2 mutations – Bente Talseth-Palmer (Australia)
11:56 – 12:03 N59: Highly sensitive MLH1 methylation analysis in blood allows the identification of low-level epigenetic mosaicism – Gabriel Capella (Spain)
12:03 – 12:10 N18: Deciphering the contribution of recently proposed polyposis predisposing genes – Mariona Terradas (Spain)
12:10 – 12:30 Collaborative Studies
12:10 – 12:20 Collaborative study for a better estimation of cancer risks in rare digestives predispositions (CTNNA11 family project) – Chrystelle Colas (France)
12:20 – 12:30 Initiatives and strategies of ESBB (European, Middle Eastern & African Society for Biopreservation & Biobanking) for empowering biosharing accross EMEA – Jens Habermann (Germany)
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