ArticleFrontiers in oncology2020
Germline Profiling and Molecular Characterization of Early Onset Metastatic Colorectal Cancer.
Article in Frontiers in oncology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers.
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Who cites it
29 citing papers in PubMed, 42 citations in OpenAlex.
- Survival Outcomes in Early Onset Appendiceal Adenocarcinoma (EOAA).Annals of surgical oncology · 2026Article
- SMAD4 Protein Alterations in Early-Onset Colorectal Cancer: Implications as a Potential Marker for Aggressive Disease and Prognosis-A Clinicopathological and Molecular Analysis of 18 Cases in Patients < 40 Years of Age.Diagnostics (Basel, Switzerland) · 2026Article
- Distinct Germline Mutation Landscape and Clinical Implications in Chinese Colorectal Cancer: A Large-Scale Genomic Analysis of 1094 Patients.Cancer medicine · 2026Article
- Molecular Basis of Adenomatous Gastrointestinal Polyposis Syndromes: Role of Pathogenic and Benign Variants in Disease Onset.Biomedicines · 2026Article
- Real-world characteristics and outcomes of patients with BRAFESMO real world data and digital oncology · 2025Article
- The Young: Early-Onset Colon Cancer.Clinics in colon and rectal surgery · 2025Review
- Identification of clinicopathological-specific driver gene and genetic subtyping of colorectal cancer.Cancer science · 2025Article
- Article
- Research progress of colorectal cancer in genomic and transcriptomic at multi-level.Frontiers in genetics · 2025Review
- Early Onset Colorectal Cancer: Molecular Underpinnings Accelerating Occurrence.Cellular and molecular gastroenterology and hepatology · 2025Review
- Molecular profiling of pediatric and young adult colorectal cancer reveals a distinct genomic landscapes and potential therapeutic avenues.Scientific reports · 2024Article
- Identification of differentially expressed genes and splicing events in early-onset colorectal cancer.Frontiers in oncology · 2024Article
- Construction and validation of a nomogram for predicting overall survival of patients with stage III/IV early-onset colorectal cancer.Frontiers in oncology · 2024Article
- Early Onset Metastatic Colorectal Cancer: Current Insights and Clinical Management of a Rising Condition.Cancers · 2023Review
- Molecular genetics of early-onset colorectal cancer.World journal of biological chemistry · 2023Review
- The Largest Chinese Cohort Study Indicates Homologous Recombination Pathway Gene Mutations as Another Major Genetic Risk Factor for Colorectal Cancer with Heterogeneous Clinical Phenotypes.Research (Washington, D.C.) · 2023Article
- TGF-β Signaling in Metastatic Colorectal Cancer (mCRC): From Underlying Mechanism to Potential Applications in Clinical Development.International journal of molecular sciences · 2022Review
- Accuracy of next-generation sequencing for molecular profiling of small specimen of lung cancer: a prospective pilot study of side-by-side comparison.Diagnostic pathology · 2022Article
- Transcriptome Analyses Identify DeregulatedBiomolecules · 2022Article
- Early-onset colorectal cancer: why it should be high on our list of differentials.ANZ journal of surgery · 2022Review
Corrections and comments
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Authors and funding
16 authors at 5 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundEarly onset colorectal cancer (EO CRC) is a heterogeneous colorectal cancer subtype with obvious hereditary tendencies and increasing incidence. We sought to determine the susceptibility genes and molecular characteristics of EO CRC.
methods330 EO metastatic CRC (mCRC) (≤55 years) and 110 average-onset (AO) mCRC patients (>55 years) were enrolled. Capture-based targeted sequencing was performed on tumor tissue and paired white blood cells using a sequencing panel of 520 genes. The association between molecular alterations and overall survival (OS) was analyzed.
resultsOf the 330 EO mCRC patients, 31 carried pathogenic or likely pathogenic germline mutations, with 16 of them diagnosed with lynch syndrome. Fifteen patients had germline mutations in non-mismatch repair genes, including four in MUTHY, three in RAD50, one in TP53, and eight in other genes. Twenty-nine genes were recurrently mutated in EO mCRC, including TP53, APC, KRAS, SMAD4, and BRCA2. The majority of genomic alterations were comparable between EO and AO mCRC. EO mCRC patients were more likely to have a high tumor mutation burden (p < 0.05). RNF43, RBM10, TSC, and BRAF V600E mutations were more commonly observed in EO mCRC, while APC, ASXL1, DNMT3B, and MET genes were more commonly altered in AO patients. At the pathway level, the WNT pathway was the only differentially mutated pathway between EO and AO mCRC (p < 0.0001). The wild-type WNT pathway (p = 0.0017) and mutated TGF-
conclusionsApproximately one in 10 EO mCRC was associated with hereditary tumors. The spectrum of somatic alterations was largely comparable between EO and AO mCRC with several notable differences.
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