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

Date: Friday 18 October 2019
Time: 13:30 – 15:30
Chairs: Daniel Buchanan (UK),  Ian Tomlinson (UK)

Time Session
13:30 – 13:50 Disease expression in juvenile polyposis syndrome – Karl Heinimann (Switzerland)
13:50 – 13:55 Juvenile polyposis syndrome in Israel is associated with a high mutation detection rate – Lior Katz (Israel)
13:55 – 14:00 MUTYH associated polyposis in the non-Jewish population in northern Israel – Gill Reznick (Israel)
14:00 – 14:05 The complexities of analysis for APC mosaicism – Diantha Terlouw (The Netherlands)
14:05 – 14:10 Unusual presentation of familial adenomatous polyposis – Fiona Lalloo (UK)
14:10 – 14:30 Exome sequencing identified potential causative candidate genes for serrated polyposis syndrome – Stefan Aretz (Germany)
14:30 – 14:35 NTHL1 biallelic mutations seldom cause colorectal cancer, serrated polyposis or a multi-tumor phenotype, in absence of colorectal adenomas – Isabel Quintana (Spain)
14:35 – 14:40 POLE, POLD1 and RNF43 screening in a serrated polypois cohort – Yasmin Soares de Lima (Spain)
14:40 – 14:45 Colorectal cancer genetic variants are also associated with serrated polyposis syndrome susceptibility – Coral Arnau-Collell (Spain)
14:45 – 15:05 TP53 pathogenic variants in colorectal cancer patients in absence of Li-Fraumeni-associated phenotypes – Laura Valle (Spain)
15:05 – 15:10 Germline mutations in FAF1 are associated with hereditary colorectal cancer – Laia Bonoch (Spain)
15:10 – 15:15 Prevalence of germline mutations in POLE and POLD1 in hereditary cancer Pilar Mur (Spain)
15:15 – 15:20 Late Onset Colorectal Cancer: Phenotypic and genotypic features – Mef Nilbert (Sweden)
15:20 – 15:30 Closing remarks
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