ArticleProceedings of the National Academy of Sciences of the United States of America2004
Multiple rare variants in different genes account for multifactorial inherited susceptibility to colorectal adenomas.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 85 papers, 1 of them a synthesis that pooled it.
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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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Who cites it
85 citing papers in PubMed, 1 synthesis or guideline pooled it, 198 citations in OpenAlex.
- PDLIM5 and susceptibility to bipolar disorder: a family-based association study and meta-analysis.Psychiatric genetics · 2008Pooled it
- Molecular functions of microRNAs in colorectal cancer: recent roles in proliferation, angiogenesis, apoptosis, and chemoresistance.Naunyn-Schmiedeberg's archives of pharmacology · 2024Review
- Deep learning for cancer type classification and driver gene identification.BMC bioinformatics · 2021Article
- Missense variants in CTNNB1 can be associated with vitreoretinopathy-Seven new cases of CTNNB1-associated neurodevelopmental disorder including a previously unreported retinal phenotype.Molecular genetics & genomic medicine · 2021Article
- Polygenic inheritance, GWAS, polygenic risk scores, and the search for functional variants.Proceedings of the National Academy of Sciences of the United States of America · 2020Article
- Are Wnt/β-Catenin and PI3K/AKT/mTORC1 Distinct Pathways in Colorectal Cancer?Cellular and molecular gastroenterology and hepatology · 2020Review
- Dishevelled1-3 contribute to multidrug resistance in colorectal cancer via activating Wnt/β-catenin signaling.Oncotarget · 2017Article
- Polymorphism of MSH2 Gly322Asp and MLH1 -93G>A in non-familial colon cancer - a case-controlled study.Archives of medical science : AMS · 2017Article
- Outcomes of retesting BRCA negative patients using multigene panels.Familial cancer · 2017Article
- The PHF21B gene is associated with major depression and modulates the stress response.Molecular psychiatry · 2017Article
- A rare FANCA gene variation as a breast cancer susceptibility allele in an Iranian population.Molecular medicine reports · 2017Article
- Disease Risk Assessment Using a Voronoi-Based Network Analysis of Genes and Variants Scores.Frontiers in genetics · 2017Article
- Altered glycosyltransferases in colorectal cancer.Expert review of gastroenterology & hepatology · 2017Article
- Trans-ethnic follow-up of breast cancer GWAS hits using the preferential linkage disequilibrium approach.Oncotarget · 2016Article
- A promoter polymorphism in the hMLH1 gene (-93G/A) associated with sporadic colorectal cancer.Oncology letters · 2016Article
- Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous Polyposis.American journal of human genetics · 2016Article
- APOE*E2 allele delays age of onset in PSEN1 E280A Alzheimer's disease.Molecular psychiatry · 2016Article
- Application of computational methods in genetic study of inflammatory bowel disease.World journal of gastroenterology · 2016Review
- Association of APC I1307K and E1317Q polymorphisms with colorectal cancer among Egyptian subjects.Familial cancer · 2016Article
- Exome sequencing of 75 individuals from multiply affected coeliac families and large scale resequencing follow up.PloS one · 2015Article
25 more citing papers are in PubMed but not listed here.
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Authors and funding
9 authors at 3 institutions in 1 country.
Funding
Abstract
Clear-cut inherited Mendelian traits, such as familial adenomatous polyposis or hereditary nonpolyposis colorectal cancer, account for <4% of colorectal cancers. Another 20% of all colorectal cancers are thought to occur in individuals with a significant inherited multifactorial susceptibility to colorectal cancer that is not obviously familial. Incompletely penetrant, comparatively rare missense variants in the adenomatous polyposis coli gene, which is responsible for familial adenomatous polyposis, have been described in patients with multiple colorectal adenomas. These variants represent a category of variation that has been suggested, quite generally, to account for a substantial fraction of such multifactorial inherited susceptibility. The aim of this study was to explore this rare variant hypothesis for multifactorial inheritance by using multiple colorectal adenomas as the model. Patients with multiple adenomas were screened for germ-line variants in a panel of candidate genes. Germ-line DNA was obtained from 124 patients with between 3 and 100 histologically proven synchronous or metachronous adenomatous polyps. All patients were tested for the adenomatous polyposis coli variants I1307K and E1317Q, and variants were also sought in AXIN1 (axin), CTNNB1 (beta-catenin), and the mismatch repair genes hMLH1 and hMSH2. The control group consisted of 483 random controls. Thirty of 124 (24.9%) patients carried potentially pathogenic germ-line variants as compared with 55 ( approximately 12%) of the controls. This overall difference is highly significant, suggesting that many rare variants collectively contribute to the inherited susceptibility to colorectal adenomas.
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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.