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.
Registreren: https://attendee.gotowebinar.com/register/1297207526449831948
RT @jkploos: Afscheid van dierbare collega Marcel Mannens, hoogleraar genoomdiagnostiek & epigenetica, Amsterdam UMC. We hebben met elkaar…
‘Mijn DNA-test redde het leven van mijn zusje’, een blog van klinisch geneticus Cora Aalfs in Medisch Contact, over het belang van DNA-onderzoek voor patiënten en hun familieleden: https://t.co/3bPdqyTrWQ @medischcontact @UMCUgenetica
Refereeravond cardiogenetica Erasmus MC: Dinsdag a.s. 28 juni om 17.45u vindt de hybride refereeravond van het Erasmus MC plaats met thema erfelijke hartspierziektn. Aanmelden kan via: refereer.klinischegenetica@erasmusmc.nl Zie ook: https://t.co/d1apjTqXj6 https://t.co/praRlkLlc3