Transforming cancer care: redefining cancer characterization and predisposition insights through nanopore sequencing

Abstract Technological advances in molecular biology have revolutionized the management of cancer patients, and also their relatives in cases of identifying genetic predispositions. We report here on our experience with nanopore sequencing in a French cancer center, both on tumor and germline aspects. We analyzed a dozen cases in which the identification of a structural variant in various predisposition genes proved tedious and time-consuming using conventional molecular techniques. Using nanopore sequencing, these rearrangements were elucidated in a very short time. In pediatric oncology, establishing a precise diagnosis is crucial to improve a patient’s management. Our study investigated the potential of nanopore sequencing for the simultaneous detection of fusions, methylation, and copy number profiles in comparison with conventional molecular techniques, on some twenty pediatric brain tumors and sarcomas. Finally, we had a special focus on medulloblastomas, the most prevalent embryonal pediatric brain tumors, by analyzing these tumors with whole-genome shallow nanopore sequencing, we showed that classification results based on methylation were similar to those provided by the reference EPIC microarray technique and provided access to subgroups. Its ability to deliver quick and cost-effective results firmly establishes Oxford Nanopore sequencing as a game-changer for molecular analysis in the field of cancer care. Biography Mathilde is a resident in molecular biology, currently working in the somatic department at the Curie Institute in Paris. She spent her research year working on the potential of nanopore methylation sequencing for the classification of brain tumors. Mathilde is now in her last year of residency at the Curie Institute and keeps working on and developing this topic. She is planning on working in the hospitaluniversity field in Parisian hospitals, to combine routine practice with research.