ArticleJournal of medical genetics2014
Colorectal cancer risk variants on 11q23 and 15q13 are associated with unexplained adenomatous polyposis.
Article in Journal of medical genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers, 1 of them a synthesis that pooled it.
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Who cites it
17 citing papers in PubMed, 1 synthesis or guideline pooled it, 24 citations in OpenAlex.
- Common genetic variants (rs4779584 and rs10318) at 15q13.3 contributes to colorectal adenoma and colorectal cancer susceptibility: evidence based on 22 studies.Molecular genetics and genomics : MGG · 2015Pooled it
- Rare loss of function variants in candidate genes and risk of colorectal cancer.Human genetics · 2018Trial
- Distinct molecular profiles and shared drug vulnerabilities in pancreatic metastases of renal cell carcinoma.Communications biology · 2024Article
- Germline variant affecting p53β isoforms predisposes to familial cancer.Nature communications · 2024Article
- Use of sanger and next-generation sequencing to screen for mosaic and intronic APC variants in unexplained colorectal polyposis patients.Familial cancer · 2022Article
- Declining detection rates for APC and biallelic MUTYH variants in polyposis patients, implications for DNA testing policy.European journal of human genetics : EJHG · 2020Article
- Evidence for genetic association between chromosome 1q loci and predisposition to colorectal neoplasia.British journal of cancer · 2017Article
- Unsupervised Analysis of Array Comparative Genomic Hybridization Data from Early-Onset Colorectal Cancer Reveals Equivalence with Molecular Classification and Phenotypes.Neoplasia (New York, N.Y.) · 2017Article
- Risk of eighteen genome-wide association study-identified genetic variants for colorectal cancer and colorectal adenoma in Han Chinese.Oncotarget · 2016Article
- Colorectal cancer risk variants at 8q23.3 and 11q23.1 are associated with disease phenotype in APC mutation carriers.Familial cancer · 2016Article
- Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous Polyposis.American journal of human genetics · 2016Article
- Copy number variants associated with 18p11.32, DCC and the promoter 1B region of APC in colorectal polyposis patients.Meta gene · 2016Article
- Clinical relevance of 8q23, 15q13 and 18q21 SNP genotyping to evaluate colorectal cancer risk.European journal of human genetics : EJHG · 2016Article
- Germline variants in POLE are associated with early onset mismatch repair deficient colorectal cancer.European journal of human genetics : EJHG · 2015Article
- Germline deletions in the tumour suppressor gene FOCAD are associated with polyposis and colorectal cancer development.The Journal of pathology · 2015Article
- Common colorectal cancer risk alleles contribute to the multiple colorectal adenoma phenotype, but do not influence colonic polyposis in FAP.European journal of human genetics : EJHG · 2015Article
- Clinical management of hereditary colorectal cancer syndromes.Nature reviews. Gastroenterology & hepatology · 2015Review
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Authors and funding
19 authors at 9 institutions in 1 country.
Funding
Abstract
backgroundColorectal adenomatous polyposis is associated with a high risk of colorectal cancer (CRC) and is frequently caused by germline mutations in APC or MUTYH. However, in about 20-30% of patients no underlying gene defect can be identified. In this study, we tested if recently identified CRC risk variants play a role in patients with >10 adenomas.
methodsWe analysed a total of 16 SNPs with a reported association with CRC in a cohort of 252 genetically unexplained index patients with >10 colorectal adenomas and 745 controls. In addition, we collected detailed clinical information from index patients and their first-degree relatives (FDRs).
resultsWe found a statistically significant association with two of the variants tested: rs3802842 (at chromosome 11q23, OR=1.60, 95% CI 1.3 to 2.0) and rs4779584 (at chromosome 15q13, OR=1.50, 95% CI 1.2 to 1.9). The majority of index patients (84%) had between 10 and 100 adenomas and 15% had >100 adenomas. Only two index patients (1%), both with >100 adenomas, had FDRs with polyposis. Forty-one per cent of the index patients had one or more FDRs with CRC.
conclusionsThese SNPs are the first common, low-penetrant variants reported to be associated with adenomatous polyposis not caused by a defect in the APC, MUTYH, POLD1 and POLE genes. Even though familial occurrence of polyposis was very rare, CRC was over-represented in FDRs of polyposis patients and, if confirmed, these relatives will therefore benefit from surveillance.
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