ArticleAmerican journal of cancer research2021
Prevalence and spectrum of germline cancer susceptibility gene variants and somatic second hits in colorectal cancer.
Article in American journal of cancer research, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers, 1 of them a synthesis that pooled it.
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Who cites it
12 citing papers in PubMed, 1 synthesis or guideline pooled it, 10 citations in OpenAlex.
- Clinicopathological characteristics and biomarker alterations in early-onset vs. late-onset colorectal cancer: a systematic review and meta-analysis.International journal of surgery (London, England) · 2026Pooled it
- Integration of multi-omics data uncovers novel germline susceptibility candidates in early-onset colorectal cancer.European journal of human genetics : EJHG · 2026Article
- Germline pathogenic variant spectrum and prevalence among colorectal cancer patients undergoing multigene panel testing in Kazakhstan.Scientific reports · 2026Article
- Article
- Whole genome sequencing-based analysis of genetic predisposition to adult glioblastoma.NPJ genomic medicine · 2025Article
- Survival of Patients with Resected Microsatellite Instability-High, Mismatch Repair Deficient, and Lynch Syndrome-Associated Pancreatic Ductal Adenocarcinomas.Annals of surgical oncology · 2025Article
- Review
- Molecular characterization of Chinese patients with small bowel adenocarcinoma.Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico · 2024Article
- The TEOGIC study project: a comprehensive characterization of early onset gastrointestinal cancer in the Northern area of Spain.BMC cancer · 2024Article
- Profiling of the genetic features of Chinese patients with gastric cancer with HRD germline mutations in a large-scale retrospective study.Journal of medical genetics · 2023Article
- Overview on population screening for carriers with germline BRCA mutation in China.Frontiers in oncology · 2022Review
- Concurrent loss of MLH1, PMS2 and MSH6 immunoexpression in digestive system cancers indicating a widespread dysregulation in DNA repair processes.Frontiers in oncology · 2022Article
Corrections and comments
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Authors and funding
12 authors at 3 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Colorectal cancer (CRC) is one of the most heritable cancers, and genetic factors play an important role in the increased CRC risk. However, the well-established CRC-risk genes were limited for explaining the increased risk of CRC individuals. Germline mutations in DNA damage repair (DDR) genes have also been reported to be implicated in CRC heritability. Here, we aimed to determine the prevalence and significance of germline DDR and well-established CRC-risk gene variants in CRCs with paired somatic analyses. Next-generation sequencing (NGS) was performed on tumor tissues and paired white blood cells collected from 2160 Chinese patients with CRC using well-designed 381- or 733-cancer gene panel. Germline/somatic variations were identified and assessed for pathogenicity and likely pathogenicity. Of 2160 CRCs, 136 pathogenic germline mutations in 133 patients (133/2160, 6.1%) were identified in 21 genes, including 19 out of 32 examined DDR genes. Compared with non-carriers, individuals with germline variants were prone to a higher level of microsatellite instability (MSI) and tumor mutational burden (TMB), and an earlier age of onset. Somatic sequencing identified second hits in 24/133 (18%) patients with germline variants. Among the mismatch repair (MMR) genes with germline mutations, the second hit significantly increased MSI and TMB, particularly apparent in
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