Oncology
Placing genetics at the core of medical decisions
In oncology, genetics distinguishes between hereditary cancer syndromes (e.g., Li-Fraumeni syndrome, neurofibromatosis, hereditary breast cancer, or hereditary colorectal cancer) and sporadic tumours (e.g., sporadic breast or colorectal cancer).
A central aspect of tumour development is the accumulation of genetic and epigenetic alterations that give rise to a population of cells with a malignant phenotype. According to the multistep model of carcinogenesis, tumour growth is initiated by transforming genomic events, most commonly involving changes in the activity of regulatory genes such as proto-oncogenes and tumour suppressor genes. These alterations may be triggered by a predisposing germline variant, environmental influences (e.g., smoking, chemotherapy, or radiotherapy), or occur spontaneously. During tumour progression, additional secondary genetic modifications promote further growth and clonal expansion. Characteristic genetic alterations, including translocations, amplifications and deletions, are valuable for the molecular classification of tumours and the early detection of recurrence, and have in part become incorporated into WHO tumour classifications.
Hereditary cancers account for only around 5% of all malignancies. If the underlying genetic alteration predisposing to a specific tumour syndrome is known, it can be detected directly from a blood sample, as the variant is present in all cells of the body.
Individuals carrying a predisposition variant are typically heterozygous and remain asymptomatic until the second, unaffected allele is inactivated by an additional mutation, referred to as a “second hit”. This phenomenon, known as loss of heterozygosity (LOH), can lead to uncontrolled cellular proliferation and the development of a malignant clone when tumour suppressor genes are affected. Conversely, spontaneous mutations may activate growth-promoting genes (proto-oncogenes), likewise resulting in uncontrolled growth.
In most cases, carriers of pathogenic germline variants have a significantly increased lifetime risk of developing cancer. Affected individuals should therefore be offered comprehensive surveillance programmes, consideration of preventive surgical measures where appropriate, and psycho-oncological support.
Testing from single-gene to comprehensive panels across major hereditary cancer indications. Exome-based technology performed via NGS.
Testing from single-gene to comprehensive panels across major hereditary cancer indications. Proprietary target capture enrichment technology via NGS. Also available as a to perform it in you own laboratory.
Are you based in Germany? Please visit our for more information.
Created by
Our editorial team consists of medical specialists and scientists in the field of human genetics. All content is created and reviewed in accordance with current scientific standards.
Are you a patient?
Certified laboratories
