ArticleBMC genetics2016
Exome sequencing in one family with gastric- and rectal cancer.
Article in BMC genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
22 citing papers in PubMed, 1 synthesis or guideline pooled it, 48 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
- High Expression of IGSF10 Confers an Inhibitory Effect on the Progression of Lung Adenocarcinoma.Journal of cellular and molecular medicine · 2025Article
- Identification of candidate biomarkers correlated with the pathogenesis of breast cancer patients.Scientific reports · 2025Article
- Review
- Article
- Research progress on the biological basis of Traditional Chinese Medicine syndromes of gastrointestinal cancers.Heliyon · 2023Review
- Role of epithelial cell-mesenchymal transition regulators in molecular typing and prognosis of colon cancer.Journal of gastrointestinal oncology · 2023Article
- An age stratified analysis of the biomarkers in patients with colorectal cancer.Scientific reports · 2021Article
- MicroRNA-106b-5p inhibits growth and progression of lung adenocarcinoma cells by downregulating IGSF10.Aging · 2021Article
- Massive parallel sequencing in a family with rectal cancer.Hereditary cancer in clinical practice · 2021Article
- Candidate Gene Discovery in Hereditary Colorectal Cancer and Polyposis Syndromes-Considerations for Future Studies.International journal of molecular sciences · 2020Review
- Identification and validation of critical alternative splicing events and splicing factors in gastric cancer progression.Journal of cellular and molecular medicine · 2020Article
- RNA sequencing-based identification of potential targets in acute myeloid leukemia: A case report.Biomedical reports · 2020Article
- The TRIOBP Isoforms and Their Distinct Roles in Actin Stabilization, Deafness, Mental Illness, and Cancer.Molecules (Basel, Switzerland) · 2020Review
- Article
- Identification of prognostic markers of lung cancer through bioinformatics analysis and in vitro experiments.International journal of oncology · 2020Article
- Identification of Metastasis-Associated Genes in Triple-Negative Breast Cancer Using Weighted Gene Co-expression Network Analysis.Evolutionary bioinformatics online · 2020Article
- Characteristic gene alterations in primary gastrointestinal T- and NK-cell lymphomas.Leukemia · 2019Article
- Transformation-induced stress at telomeres is counteracted through changes in the telomeric proteome including SAMHD1.Life science alliance · 2018Article
- Emerging roles of TRIO and F-actin-binding protein in human diseases.Cell communication and signaling : CCS · 2018Review
Corrections and comments
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundHeritable factors are well known to increase the risk of cancer in families. Known susceptibility genes account for a small proportion of all colorectal cancer cases. The aim of this study was to identify the genetic background in a family suggested to segregate a dominant cancer syndrome with a high risk of rectal- and gastric cancer. We performed whole exome sequencing in three family members, 2 with rectal cancer and 1 with gastric cancer and followed it up in additional family members, other patients and controls.
resultsWe identified 12 novel non-synonymous single nucleotide variants, which were shared among 5 affected members of this family. The mutations were found in 12 different genes; DZIP1L, PCOLCE2, IGSF10, SUCNR1, OR13C8, EPB41L4B, SEC16A, NOTCH1, TAS2R7, SF3A1, GAL3ST1, and TRIOBP. None of the mutations was suggested as a high penetrant mutation. It was not possible to completely rule out any of the mutations as contributing to disease, although seven were more unlikely than the others. Neither did we rule out the effect of all thousands of intronic, intergenic and synonymous variants shared between the three persons used for exome sequencing.
conclusionsWe propose this family, suggested to segregate dominant disease, could be an example of complex inheritance.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.