Work

Germline genomic profiling of patients with early-onset colorectal cancer

Year: 2025

Type: article

Abstract: Background: The incidence of early-onset colorectal cancer (EO-CRC) is rising. While most cases of EO-CRC are sporadic, the prevalence of hereditary cancer predisposition syndromes remains a subject of debate. Moreover, genes not traditionally associated with EO-CRC development are rarely included in germline testing panels. Patients and methods: Germline profiling data of patients with EO-CRC presenting to our clinics were collected at two Italian university institutions: IRCCS San Raffaele Scientific Institute and Grande Ospedale Metropolitano Niguarda. Multigene germline profiling analysis was carried out using next-generation sequencing and multiplex ligation probe amplification. Associations between germline alterations and clinicopathological variables were analyzed. Results: were identified in two patients with EO-CRC. Conclusions: are not currently included in the current guidelines for EO-CRC, PVs/LPVs in these genes may be underestimated. To better understand their significance, we recommend including their assessment in all patients with EO-CRC.

Source: ESMO Gastrointestinal Oncology

DOI: 10.1016/j.esmogo.2025.100182