ArticleGenetics in medicine : official journal of the American College of Medical Genetics2018
Risk of colorectal cancer for carriers of a germ-line mutation in POLE or POLD1.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 31 papers, 2 of them syntheses that pooled it.
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31 citing papers in PubMed, 2 syntheses or guidelines pooled it, 63 citations in OpenAlex.
- Japanese society for cancer of the colon and rectum (JSCCR) guidelines 2024 for the clinical practice of hereditary colorectal cancer.International journal of clinical oncology · 2026Guideline
- Unexplained mismatch repair deficiency: Case closed.HGG advances · 2023Pooled it
- [Hereditary colorectal cancer].Pathologie (Heidelberg, Germany) · 2026Review
- The 'other' colonic polyposis syndromes-evolving insights and guidance for endoscopists.International journal of colorectal disease · 2026Review
- Beyond proofreading: POLD1 mutations as dynamic orchestrators of genomic instability and immune evasion in cancer.Frontiers in immunology · 2025Review
- Cancer Risks Associated WithJCO precision oncology · 2024Article
- [Hereditary colorectal carcinogenesis].Pathologie (Heidelberg, Germany) · 2023Review
- Evaluation of inherited germline mutations in cancer susceptibility genes among pancreatic cancer patients: a single-center study.Molecular medicine (Cambridge, Mass.) · 2023Article
- Genetic Predisposition to Colorectal Cancer: How Many and Which Genes to Test?International journal of molecular sciences · 2023Review
- Genetic insights: High germline variant rate in an indigenous African cohort with early-onset colorectal cancer.Frontiers in oncology · 2023Article
- Unraveling the impact of a germline heterozygousFrontiers in molecular biosciences · 2023Article
- Oncogenic alterations reveal key strategies for precision oncology in melanoma treatment.Annals of translational medicine · 2022Article
- The clinical features of polymerase proof-reading associated polyposis (PPAP) and recommendations for patient management.Familial cancer · 2022Article
- Germline Variants ofCancers · 2022Article
- Genomic profiles of Indonesian colorectal cancer patients.F1000Research · 2022Article
- Assessment ofTranslational cancer research · 2022Article
- Evaluation of Classic, Attenuated, and Oligopolyposis of the Colon.Gastrointestinal endoscopy clinics of North America · 2022Review
- How many is too many? Polyposis syndromes and what to do next.Current opinion in gastroenterology · 2022Review
- Danish guidelines for management of non-APC-associated hereditary polyposis syndromes.Hereditary cancer in clinical practice · 2021Review
- Discordant DNA mismatch repair protein status between synchronous or metachronous gastrointestinal carcinomas: frequency, patterns, and molecular etiologies.Familial cancer · 2021Article
Corrections and comments
- Erratum issued
Authors and funding
12 authors at 3 institutions in 1 country.
Funding
Abstract
backgroundGerm-line mutations in the exonuclease domains of the POLE and POLD1 genes are associated with an increased, but yet unquantified, risk of colorectal cancer (CRC).
methodsWe identified families with POLE or POLD1 variants by searching PubMed for relevant studies prior to October 2016 and by genotyping 669 population-based CRC cases diagnosed in patients under 60 years of age, from the Australasian Colorectal Cancer Family Registry. We estimated the age-specific cumulative risks (penetrance) using a modified segregation analysis.
resultsWe observed 67 CRCs (mean age at diagnosis = 50.2 (SD = 13.8) years) among 364 first- and second-degree relatives from 41 POLE families, and 6 CRCs (mean age at diagnosis = 39.7 (SD = 6.83) years) among 69 relatives from 9 POLD1 families. We estimated risks of CRC up to the age of 70 years (95% confidence interval) for males and females, respectively, to be 28% (95% CI, 10–42%) and 21% (95% CI, 7–33%) for POLE mutation carriers and 90% (95% CI, 33–99%) and 82% (95% CI, 26–99%) for POLD1 mutation carriers.
conclusionCRC risks for POLE mutation carriers are sufficiently high to warrant consideration of colonoscopy screening and implementation of management guidelines recommended for MSH6 mutation carriers in cases of Lynch syndrome. Refinement of estimates of CRC risk for POLD1 carriers is needed; however, clinical management recommendations could follow those made for POLE carriers.
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