[Genetic diagnostics].

Authors

Laura Grohs, Felix Marbach, Stefan Aretz

Published in

Pathologie (Heidelberg, Germany). Jun 24, 2026. Epub Jun 24, 2026.

Abstract

Hereditary tumour disposition syndromes (TDS) are caused by pathogenic germline variants in key genes involved in carcinogenesis and, if left untreated, frequently result in a high lifetime risk for a syndrome-specific spectrum of benign and malignant tumours. Early detection is of high clinical relevance, as effective preventive measures and, in some cases, special therapeutic options are available for patients and other (still healthy) carriers in the family.
Our work and expertise as well as the results of a selective literature search are presented.
An unusually early age of onset, the occurrence of a rare tumour or multiple tumours of a typical spectrum in the patient's medical and/or family history are key clinical indicators. An increasing number of carriers are being identified through the detection of pathogenic variants in tumour tissue, which, depending on gene, age of the affected person and variant allele fraction, constitute an indication for germline testing. Parallel tumour and germline sequencing will accelerate this process in the future. In the age of personalised genomic medicine, close interdisciplinary collaboration between pathology, human genetics and other involved clinical disciplines is essential, including molecular tumour boards.
TDS represent an exceptionally successful example in the field of preventive oncology and personalised medicine. The increasingly extensive molecular analysis of tumour tissue and the constantly improving detection of many types of genetic alterations using genome-based methods has enabled a new diagnostic pathway for identifying especially those TDS families which do not meet typical clinical criteria.

PMID:
42340385
Bibliographic data and abstract were imported from PubMed on 24 Jun 2026.

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