Publications by authors named "Romain Thissen"
Article Synopsis
- The study focuses on the lesser-known phenomenon of oligogenic coinheritance, where individuals carry multiple heterozygous pathogenic variants (PVs) related to cancer, as opposed to the more commonly researched single gene carriers.
- Researchers examined 10 patients aged 45 or younger who had multiple primary cancers (MPCs) and used advanced genetic testing methods such as whole exome sequencing (WES) and chromosomal microarray analysis (CMA) to identify genetic variations associated with their conditions.
- The findings revealed that most genetic variants were of uncertain significance, indicating potential additive effects in cancer development, and emphasized the need for comprehensive assessments that go beyond just identifying one PV in patients with early-onset cancers and a family history of
Objective: The link between and homologous recombination deficiency (HRD) in cancer has gained importance with the emergence of new targeted cancer treatments, while the available data on the role of the gene in colorectal cancer (CRC) remain contradictory. The aim of this case series was to elucidate the role of known pathogenic variants in the development of early-onset CRC.
Design: Patients were evaluated using targeted next generation sequencing, exome sequencing and chromosomal microarray analysis of the paired germline and tumor samples.