20-11-2024

Molecular profiles of noncanonical malignancies from patients with Lynch syndrome or a BRCA1/2 pathogenic variant may generate putative options for personalized treatment

Marjolijn Ligtenberg is full professor in Molecular Tumour Genetics at Radboudumc, Nijmegen, The Netherlands. She is head of the Laboratory of Tumour Genetics. She has a special interest in molecular aspects of hereditary cancer and optimization of systemic treatment regimens using tumour genetic markers.

Malignancies associated with Lynch syndrome show microsatellite instability and those associated with BRCA1/2 pathogenic variant show genomic instability due to homologous repair deficiencies. These characteristics render the malignancies vulnerable for specific treatments. Patients with Lynch syndrome or a BRCA1/2 pathogenic variant may develop malignancies other than the associated tumour types. The extend to which these noncanonical tumours present with molecular profiles characteristic for the respective syndromes and the putative consequences for treatment will be discussed.