ArticleCancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology2013
Identification of novel variants in colorectal cancer families by high-throughput exome sequencing.
Article in Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers, 1 of them a synthesis that pooled it.
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Who cites it
26 citing papers in PubMed, 1 synthesis or guideline pooled it, 40 citations in OpenAlex.
- A Systematic Literature Review of Whole Exome and Genome Sequencing Population Studies of Genetic Susceptibility to Cancer.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2020Pooled it
- Patient preferences for massively parallel sequencing genetic testing of colorectal cancer risk: a discrete choice experiment.European journal of human genetics : EJHG · 2018Trial
- KIF23 in disease pathogenesis and therapeutics : from molecular mechanisms to clinical translation.Cancer cell international · 2026Review
- KIF23 in disease pathogenesis and its therapeutic and diagnostic potential.Discover oncology · 2026Review
- Germline DNA Damage Repair Gene Alterations in Patients with Metachronous Breast and Colorectal Cancer.International journal of molecular sciences · 2024Article
- The Lectin Pathway of the Complement System-Activation, Regulation, Disease Connections and Interplay with Other (Proteolytic) Systems.International journal of molecular sciences · 2024Review
- Comprehensive transcriptome analysis of colorectal cancer risk of hyperglycemia in humans.Journal of gastrointestinal oncology · 2021Article
- Article
- Mutation and Copy Number Alterations Analysis of KIF23 in Glioma.Frontiers in genetics · 2021Article
- Candidate Gene Discovery in Hereditary Colorectal Cancer and Polyposis Syndromes-Considerations for Future Studies.International journal of molecular sciences · 2020Review
- Dominantly Inherited Hereditary Nonpolyposis Colorectal Cancer Not Caused by MMR Genes.Journal of clinical medicine · 2020Review
- Novel candidates in early-onset familial colorectal cancer.Familial cancer · 2020Article
- A germline mutation in Rab43 gene identified from a cancer family predisposes to a hereditary liver-colon cancer syndrome.BMC cancer · 2019Article
- Cohort Profile: The Colon Cancer Family Registry Cohort (CCFRC).International journal of epidemiology · 2018Article
- Transcriptome analysis in primary colorectal cancer tissues from patients with and without liver metastases using next-generation sequencing.Cancer medicine · 2017Article
- Mutation analysis and copy number alterations ofOncoTargets and therapy · 2017Article
- The genetic heterogeneity of colorectal cancer predisposition - guidelines for gene discovery.Cellular oncology (Dordrecht, Netherlands) · 2016Review
- Colorectal cancer carcinogenesis: a review of mechanisms.Cancer biology & medicine · 2016Article
- Scarce evidence of the causal role of germline mutations in UNC5C in hereditary colorectal cancer and polyposis.Scientific reports · 2016Article
- Identification of Novel Candidate Genes for Early-Onset Colorectal Cancer Susceptibility.PLoS genetics · 2016Article
Corrections and comments
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Authors and funding
27 authors at 5 institutions in 2 countries.
Funding
Abstract
backgroundColorectal cancer (CRC) in densely affected families without Lynch Syndrome may be due to mutations in undiscovered genetic loci. Familial linkage analyses have yielded disparate results; the use of exome sequencing in coding regions may identify novel segregating variants.
methodsWe completed exome sequencing on 40 affected cases from 16 multicase pedigrees to identify novel loci. Variants shared among all sequenced cases within each family were identified and filtered to exclude common variants and single-nucleotide variants (SNV) predicted to be benign.
resultsWe identified 32 nonsense or splice-site SNVs, 375 missense SNVs, 1,394 synonymous or noncoding SNVs, and 50 indels in the 16 families. Of particular interest are two validated and replicated missense variants in CENPE and KIF23, which are both located within previously reported CRC linkage regions, on chromosomes 1 and 15, respectively.
conclusionsWhole-exome sequencing identified DNA variants in multiple genes. Additional sequencing of these genes in additional samples will further elucidate the role of variants in these regions in CRC susceptibility. IMPACT: Exome sequencing of familial CRC cases can identify novel rare variants that may influence disease risk.
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