11 November: ERN GENTURIS webinar: Pheochromocytoma and paraganglioma – benefit of combined germline and tumor testing for PPGL patients
Spreker: Prof. Evelin Schröck, head Institute of Clinical Genetics, Carl Gustav Carus University, Dresden
Inhoud: Every patient afflicted with a PPGL tumor should be offered genetic testing. Germline mutations are found in 30% of all PPGL patients and in 80% of young PPGL patients. Integration of germline and tumor sequencing data greatly benefits patients by enhancing detection rates of pathogenic variants. Tumor sequencing is imperative for the identification of potential somatic driver mutations, exclusion of hereditary tumor syndromes and of importance for patients and their families. Surveillance programs and clinical management programs are needed. Establishment of in vitro models for fast analysis of VUS in SHDB, VHL and FH (PoC). Aim: streamlined classification of VUS identified in PPGL patients to contribute to precision cancer medicine. If you would like to attend this webinar, please, register here.
De Science editie van deze week staat in het thema van human genetics, met interessante artikelen over o.a. het Human Genome Project, repetitief DNA en polygene achtergrond van complexe ziekten 👇: https://t.co/i8LIcvjwRX