ReviewThe Journal of molecular diagnostics : JMD2009
Analysis of rare APC variants at the mRNA level: six pathogenic mutations and literature review.
Review in The Journal of molecular diagnostics : JMD, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 1 of them a synthesis that pooled it.
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Who cites it
16 citing papers in PubMed, 1 synthesis or guideline pooled it, 22 citations in OpenAlex.
- Mosaicism in Patients With Colorectal Cancer or Polyposis Syndromes: A Systematic Review.Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association · 2020Pooled it
- Trial
- Large-scale application of ClinGen-InSiGHT APC-specific ACMG/AMP variant classification criteria leads to substantial reduction in VUS.American journal of human genetics · 2024Article
- Gene-specific ACMG/AMP classification criteria for germline APC variants: Recommendations from the ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Panel.Genetics in medicine : official journal of the American College of Medical Genetics · 2024Article
- Article
- Newly discovered genomic mutation patterns in radiation-induced small intestinal tumors of ApcMin/+ mice.PloS one · 2023Article
- Synonymous Variants: Necessary Nuance in Our Understanding of Cancer Drivers and Treatment Outcomes.Journal of the National Cancer Institute · 2022Review
- Article
- Article
- Article
- Alternative splicing within the Wnt signaling pathway: role in cancer development.Cellular oncology (Dordrecht, Netherlands) · 2016Review
- Genomic era diagnosis and management of hereditary and sporadic colon cancer.World journal of clinical oncology · 2014Review
- Cyclin D1 rare variants in UK multiple adenoma and early-onset colorectal cancer patients.Journal of human genetics · 2011Article
- Genotype to phenotype: analyzing the effects of inherited mutations in colorectal cancer families.Mutation research · 2010Review
- Allele-specific expression of APC in adenomatous polyposis families.Gastroenterology · 2010Article
- Large intron 14 rearrangement in APC results in splice defect and attenuated FAP.Human genetics · 2010Article
Corrections and comments
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Authors and funding
12 authors at 5 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
In monogenic disorders, the functional evaluation of rare, unclassified variants helps to assess their pathogenic relevance and can improve differential diagnosis and predictive testing. We characterized six rare APC variants in patients with familial adenomatous polyposis at the mRNA level. APC variants c.531 + 5G>C and c.532-8G>A in intron 4, c.1409-2_1409delAGG in intron 10, c.1548G>A in exon 11, and a large duplication of exons 10 and 11 result in a premature stop codon attributable to aberrant transcripts whereas the variant c.1742A>G leads to the in-frame deletion of exon 13 and results in the removal of a functional motif. Mutation c.1548G>A was detected in the index patient but not in his affected father, suggesting mutational mosaicism. A literature review shows that most of the rare APC variants detected by routine diagnostics and further analyzed at the transcript level were evaluated as pathogenic. The majority of rare APC variants, particularly those located close to exon-intron boundaries, could be classified as pathogenic because of aberrant splicing. Our study shows that the characterization of rare variants at the mRNA level is crucial for the evaluation of pathogenicity and underlying mutational mechanisms, and could lead to better treatment modalities.
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