ArticleGut2010
The genetic basis of colorectal cancer in a population-based incident cohort with a high rate of familial disease.
Article in Gut, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 54 papers, 2 of them syntheses that pooled it.
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Who cites it
54 citing papers in PubMed, 2 syntheses or guidelines pooled it, 84 citations in OpenAlex.
- Comparison of universal screening in major lynch-associated tumors: a systematic review of literature.Familial cancer · 2022Pooled it
- Worldwide variation in lynch syndrome screening: case for universal screening in low colorectal cancer prevalence areas.Familial cancer · 2021Pooled it
- "Where do I go from here?" Navigating a lifelong road without a map: the care experiences of hereditary cancer patients.European journal of human genetics : EJHG · 2026Article
- Genetic landscape of Chinese colorectal cancer: insights into germline and somatic mutations.BMC cancer · 2026Article
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- Chasing cancer: does the social-to-medical spending ratio relate to cancer incidence and mortality in Canadian provinces? A retrospective cohort study.BMJ public health · 2024Article
- Associations between polymorphisms in leptin and leptin receptor genes and colorectal cancer survival.Cancer biology & medicine · 2023Article
- Multifactor dimensionality reduction method identifies novel SNP interactions in the WNT protein interaction networks that are associated with recurrence risk in colorectal cancer.Frontiers in oncology · 2023Article
- The Roles ofNutrients · 2022Article
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- Socioeconomic inequalities in colorectal cancer incidence in Canada: trends over two decades.Cancer causes & control : CCC · 2022Article
- Examining SNP-SNP interactions and risk of clinical outcomes in colorectal cancer using multifactor dimensionality reduction based methods.Frontiers in genetics · 2022Article
- A comprehensive analysis of SNPs and CNVs identifies novel markers associated with disease outcomes in colorectal cancer.Molecular oncology · 2021Article
- Article
- Germline mutational profile of Chinese patients under 70 years old with colorectal cancer.Cancer communications (London, England) · 2020Article
- Comparison of Molecular, Clinicopathological, and Pedigree Differences Between Lynch-Like and Lynch Syndromes.Frontiers in genetics · 2020Article
- Determination of Cut Point in the Age of Colorectal Cancer Diagnosis Using a Survival Cure Model.Asian Pacific journal of cancer prevention : APJCP · 2019Article
- Article
Corrections and comments
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Authors and funding
20 authors at 7 institutions in 2 countries.
Funding
Abstract
BACKGROUND AND
aimsColorectal cancer (CRC) is the second most frequent cancer in developed countries. Newfoundland has the highest incidence of CRC in Canada and the highest rate of familial CRC yet reported in the world. To determine the impact of mutations in known CRC susceptibility genes and the contribution of the known pathways to the development of hereditary CRC, an incident cohort of 750 patients with CRC (708 different families) from the Newfoundland population was studied.
methodsMicrosatellite instability (MSI) testing was performed on tumours, together with immunohistochemistry analysis for mismatch repair (MMR) genes. Where indicated, DNA sequencing and multiplex ligation-dependent probe amplifications of MMR genes and APC was undertaken. DNA from all patients was screened for MUTYH mutations. The presence of the BRAF variant, p.V600E, and of MLH1 promoter methylation was also tested in tumours.
results4.6% of patients fulfilled the Amsterdam criteria (AC), and an additional 44.6% fulfilled the revised Bethesda criteria. MSI-high (MSI-H) was observed in 10.7% (n=78) of 732 tumours. In 3.6% (n=27) of patients, CRC was attributed to 12 different inherited mutations in six known CRC-related genes associated with chromosomal instability or MSI pathways. Seven patients (0.9%) carried a mutation in APC or biallelic mutations in MUTYH. Of 20 patients (2.7%) with mutations in MMR genes, 14 (70%) had one of two MSH2 founder mutations. 17 of 28 (61%) AC families did not have a genetic cause identified, of which 15 kindreds fulfilled the criteria for familial CRC type X (FCCTX).
conclusionsFounder mutations accounted for only 2.1% of cases and this was insufficient to explain the high rate of familial CRC. Many of the families classified as FCCTX may have highly penetrant mutations segregating in a Mendelian-like manner. These families will be important for identifying additional CRC susceptibility loci.
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