Polyposis Syndromes (old and new genes and phenotypes) Working Group

Date: Friday 18 October 2019
Time: 16:00 – 18:00
Chairs: Daniel Buchanan (UK),  Ian Tomlinson (UK)

Time Session
16:00 – 16:20 Disease expression in juvenile polyposis syndrome – Karl Heinimann (Switzerland)
16:20 – 16:25 Juvenile polyposis syndrome in Israel is associated with a high mutation detection rate – Katz Lior (Israel)
16:25 – 16:30 MUTYH associated polyposis in the non-Jewish population in northern Israel – Elizabeth Half-Onn (Israel)
16:30 – 16:35 The complexities of analysis for APC mosaicism – Diantha Terlouw (The Netherlands)
16:35 – 16:40 Unusual presentation of familial adenomatous polyposis – Fiona Lalloo (UK)
16:40 – 17:00 Exome sequencing identified potential causative candidate genes for serrated polyposis syndrome – Stefan Aretz (Germany)
17:00 – 17:05 NTHL1 biallelic mutations seldom cause colorectal cancer, serrated polyposis or a multi-tumor phenotype, in absence of colorectal adenomas – Isabel Quintana (Spain)
17:05 – 17:10 POLE, POLD1 and RNF43 screening in a serrated polypois cohort – Yasmin Soares de Lima (Spain)
17:10 – 17:15 Colorectal cancer genetic variants are also associated with serrated polyposis syndrome susceptibility – Coral Arnau-Collell (Spain)
17:15 – 17:35 TP53 pathogenic variants in colorectal cancer patients in absence of Li-Fraumeni-associated phenotypes – Laura Valle (Spain)
17:35 – 17:40 Germline mutations in FAF1 are associated with hereditary colorectal cancer – Laia Bonoch (Spain)
17:40 – 17:45 Prevalence of germline mutations in POLE and POLD1 in hereditary cancer (Spain)
17:45 – 17:50 Late Onset Colorectal Cancer: Phenotypic and genotypic features – Mef Nilbert (Sweden)
17:50 – 18:00 Closing remarks
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