ArticleESMO gastrointestinal oncology2025
Germline genomic profiling of patients with early-onset colorectal cancer.
Article in ESMO gastrointestinal oncology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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Who cites it
2 citing papers in PubMed.
- Comment on "Risk of malignant melanoma and colorectal cancer in Birt-Hogg-Dubé syndrome-a matched cohort study" by Skarin Nordenvall et al.British journal of cancer · 2026Article
- Germline pathogenic variant spectrum and prevalence among colorectal cancer patients undergoing multigene panel testing in Kazakhstan.Scientific reports · 2026Article
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Authors and funding
16 authors.
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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: A total of 130 patients with EO-CRC were screened. The median age at EO-CRC diagnosis was 42 years (range 22-49 years). Germline pathogenic or likely pathogenic variants (PVs/LPVs) associated with hereditary cancer predisposition syndromes were identified in 23 (18%) patients, while germline variants of unknown significance were found in 47 (36%) patients. No alterations in high-penetrance genes associated with cancer susceptibility were observed in 67 (52%) patients. No patients with microsatellite stable Conclusions: While most EO-CRC cases are sporadic, approximately one-fifth arises within the context of hereditary cancer predisposition syndromes. As
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