Variants identified in tumors can be germline – when to refer for germline testing
Dr. Kathleen Claes is affiliated to the Center for Medical Genetics of Ghent University Hospital, Belgium. She is a European registered Clinical Laboratory Geneticist, with a main expertise in molecular genetics of cancer predisposition syndromes. Furthermore, she was involved in the implementation of the molecular diagnostics platform for tumor sequencing in her hospital.
Since the number of druggable tumour-specific molecular aberrations has grown substantially in the past decade, tumour molecular profiling has been introduced at a large scale and revolutionized the field of precision oncology. Besides variants driving therapeutic decisions, germline variants are being detected, with implications for both the patient and relatives. During the webinar an overview will be provided of the most relevant genes included in many cancer gene panels. Additionally, the prevalence of germline variants in different tumour types and issues on clonal hematopoiesis and mosaicism will be discussed and case-illustrated.
This webinar aims to increase knowledge on the complexity of variant interpretation and to show that tumour sequencing must be accompanied by a plan for return of germline results, in partnership with genetic counseling.