ReviewCellular oncology (Dordrecht, Netherlands)2016
The genetic heterogeneity of colorectal cancer predisposition - guidelines for gene discovery.
Review in Cellular oncology (Dordrecht, Netherlands), 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed, 42 citations in OpenAlex.
- Integration of multi-omics data uncovers novel germline susceptibility candidates in early-onset colorectal cancer.European journal of human genetics : EJHG · 2026Article
- Molecular detection of exosomal miRNAs of blood serum for prognosis of colorectal cancer.Scientific reports · 2024Article
- Detection of germline variants with pathogenic potential in 48 patients with familial colorectal cancer by using whole exome sequencing.BMC medical genomics · 2023Article
- Review
- Genetic heterogeneity: Challenges, impacts, and methods through an associative lens.Genetic epidemiology · 2022Review
- Exome sequencing of early-onset patients supports genetic heterogeneity in colorectal cancer.Scientific reports · 2021Article
- A Network-Based Methodology to Identify Subnetwork Markers for Diagnosis and Prognosis of Colorectal Cancer.Frontiers in genetics · 2021Article
- Candidate Gene Discovery in Hereditary Colorectal Cancer and Polyposis Syndromes-Considerations for Future Studies.International journal of molecular sciences · 2020Review
- Investigation of sirtuin 1 polymorphisms in relation to the risk of colorectal cancer by molecular subtype.Scientific reports · 2020Article
- Results of multigene panel testing in familial cancer cases without genetic cause demonstrated by single gene testing.Scientific reports · 2019Article
- Targeting CDK9 for treatment of colorectal cancer.Molecular oncology · 2019Article
- Mutation spectrum of germline cancer susceptibility genes among unselected Chinese colorectal cancer patients.Cancer management and research · 2019Article
- Evidence for GALNT12 as a moderate penetrance gene for colorectal cancer.Human mutation · 2018Article
- Genetics of personalized medicine: cancer and rare diseases.Cellular oncology (Dordrecht, Netherlands) · 2018Article
- Young Adult Cancer: Influence of the Obesity Pandemic.Obesity (Silver Spring, Md.) · 2018Review
- Bayesian and frequentist analysis of an Austrian genome-wide association study of colorectal cancer and advanced adenomas.Oncotarget · 2017Article
- [Expression of MIER3 in colorectal cancer and bioinformatic analysis of MIER3- interacting proteins].Nan fang yi ke da xue xue bao = Journal of Southern Medical University · 2017Article
- The role of hERG1 ion channels in epithelial-mesenchymal transition and the capacity of riluzole to reduce cisplatin resistance in colorectal cancer cells.Cellular oncology (Dordrecht, Netherlands) · 2017Article
- A step-by-step microRNA guide to cancer development and metastasis.Cellular oncology (Dordrecht, Netherlands) · 2017Review
- Expanding the genotype-phenotype spectrum in hereditary colorectal cancer by gene panel testing.Familial cancer · 2017Article
Corrections and comments
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundColorectal cancer (CRC) is a cumulative term applied to a clinically and genetically heterogeneous group of neoplasms that occur in the bowel. Based on twin studies, up to 45 % of the CRC cases may involve a heritable component. Yet, only in 5-10 % of these cases high-penetrant germline mutations are found (e.g. mutations in APC and DNA mismatch repair genes) that result in a familial aggregation and/or an early onset of the disease. Genome-wide association studies have revealed that another ~5 % of the CRC cases may be explained by a cumulative effect of low-penetrant risk factors. Recent attempts to identify novel genetic factors using whole exome and whole genome sequencing has proven to be difficult since the remaining, yet to be discovered, high penetrant CRC predisposing genes appear to be rare. In addition, most of the moderately penetrant candidate genes identified so far have not been confirmed in independent cohorts. Based on literature examples, we here discuss how careful patient and cohort selection, candidate gene and variant selection, and corroborative evidence may be employed to facilitate the discovery of novel CRC predisposing genes.
conclusionsThe picture emerges that the genetic predisposition to CRC is heterogeneous, involving complex interplays between common and rare (inter)genic variants with different penetrances. It is anticipated, however, that the use of large clinically well-defined patient and control datasets, together with improved functional and technical possibilities, will yield enough power to unravel this complex interplay and to generate accurate individualized estimates for the risk to develop CRC.
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