Cancer predisposition syndromes

Early onset cancer development, multiple tumors within one person, or one family with the same type of cancer are suggestive of hereditary cancer predisposition syndromes. Genetic counselling and/or diagnostics should be offered to affected people or people at risk. Today, next generation sequencing is the method of choice to analyze most of the causative genes. Single nucleotide variants, small deletions and duplications as well as larger (exon spanning) deletions and duplications can be detected within 2-3 weeks. Results enable the counsellor/physician to inform the patient and the family about individual therapeutic options, recurrence risk and the possibility of preventive procedures.