SynthesisClinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association2020
Mosaicism in Patients With Colorectal Cancer or Polyposis Syndromes: A Systematic Review.
Synthesis in Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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Who cites it
24 citing papers in PubMed, 46 citations in OpenAlex.
- Integrating germline and tumor sequencing to improve hereditary cancer diagnosis and care.European journal of human genetics : EJHG · 2026Review
- Evaluation of ACMG/AMP guidelines for classifying APC variants in Korean patients with suspected familial adenomatous polyposis.Cancer cell international · 2026Article
- Adenomatous Polyposis Coli Gene Polyposis-Related Syndromes.The American journal of gastroenterology · 2026Review
- Double Trouble: EPCAM Exon 9 Deletion in Lynch Syndrome Leading to Dual Primary Tumors.Cureus · 2026Article
- Gene, genetics and genetic medicines in gastroenterology: Current status and its future.World journal of gastroenterology · 2026Review
- Updated genetic testing in individuals with unexplained adenomatous polyposis and the diagnostic yield.Familial cancer · 2025Article
- DNA Mismatch Repair Gene Mosaicism Is Rare in People With Mismatch Repair-Deficient Cancers.Gastroenterology · 2025Article
- A review of APC somatic mosaicism and specific APC variants - I1307K and promotor variants.Familial cancer · 2025Review
- Genetics, genomics and clinical features of adenomatous polyposis.Familial cancer · 2025Review
- Lynch syndrome and colorectal cancer: A review of current perspectives in molecular genetics and clinical strategies.Oncology research · 2025Review
- Identification of a MosaicCase reports in genetics · 2025Article
- A rare subtype of lynch syndrome familial with co-mutation of EpCAM c.344T>C, MSH2 c.2744A>G, PMS2 c.1408C>T and APC c.5465T>A, case report and literature review.Frontiers in genetics · 2025Article
- Postzygotic mosaicism of SMARCB1 variants in patients with rhabdoid tumors: A not-so-rare condition exposing to successive tumors.Neuro-oncology · 2024Article
- Challenges in developing and implementing international best practice guidance for intermediate-risk variants in cancer susceptibility genes:Journal of medical genetics · 2024Article
- Genomic Newborn Screening for Pediatric Cancer Predisposition Syndromes: A Holistic Approach.Cancers · 2024Review
- Usefulness of genotyping APC gene for individualizing management of patients with familial adenomatous polyposis.International journal of clinical oncology · 2023Article
- A mosaic pathogenic variant in MSH6 causes MSH6-deficient colorectal and endometrial cancer in a patient classified as suspected Lynch syndrome: a case report.Familial cancer · 2023Article
- Analysis of germline variants in pediatric patients diagnosed with desmoid tumors and nuchal-type fibromas.Translational pediatrics · 2023Article
- Updated Perspectives on the Diagnosis and Management of Familial Adenomatous Polyposis.The application of clinical genetics · 2023Review
- Nonmalignant Features Associated with Inherited Colorectal Cancer Syndromes-Clues for Diagnosis.Cancers · 2022Review
Corrections and comments
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Authors and funding
2 authors at 2 institutions in 1 country.
Funding
Abstract
BACKGROUND &
aimsSomatic mosaicism, in which variants arise post-zygotically and are therefore not present in all cells in the body, may be an underestimated cause of colorectal cancer (CRC) and polyposis syndromes. We performed a systematic review to provide a comprehensive overview of somatic mosaicism in patients with CRC and polyposis syndromes.
methodsWe searched PubMed through March 2018 to identify reports of mosaicism in patients with CRC or polyposis syndromes. We divided the final set of studies into 3 subgroups describing APC mosaicism, mosaicism in other CRC susceptibility genes, and epigenetic mosaicism.
resultsOf the 232 articles identified in our systematic search, 46 met the criteria for further analysis. Of these, 35 studies described mosaic variants or epimutations in patients with CRC or polyposis syndromes. Nineteen studies described APC mosaicism, comprising a total of 57 patients. Six described mosaicism in genes associated with familial CRC syndromes, such as Lynch and Cowden syndromes. Ten studies described epigenetic mosaicism, sometimes resulting from a germline variant (such as deletion of EPCAM).
conclusionsWe found that somatic mosaicism is underdiagnosed but critical for determining the clinical management of patients with de novo polyposis who possibly carry mosaic APC variants, and present a decision tree for the clinical management of these patients. Mosaicism in genes associated with susceptibility to CRC contributes to development of other familial CRC syndromes. Heritable epigenetic mosaicism is likely underestimated and could have a dominant pattern of inheritance. However, the inheritance of primary mosaic epimutations, without an underlying genetic cause, is complex and not fully understood.
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