ArticleGenetics in medicine : official journal of the American College of Medical Genetics2019
An alternative approach to establishing unbiased colorectal cancer risk estimation in Lynch syndrome.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers, 2 of them syntheses that pooled it.
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Who cites it
12 citing papers in PubMed, 2 syntheses or guidelines pooled it, 24 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
- [Gender-specific differences in the development of colorectal cancer in Lynch syndrome patients-A systematic review].Chirurgie (Heidelberg, Germany) · 2024Pooled it
- WGS identifies Lynch syndrome (LS) patients and uncovers a large family with MSH2-related LS in Southern Thailand.PloS one · 2026Article
- PMS2 mutation spectra in Norway and risk of cancer for carriers of pathogenic variants.Hereditary cancer in clinical practice · 2024Article
- Hereditary Gastrointestinal Tumor Syndromes: When Risk Comes with Your Genes.Current issues in molecular biology · 2024Review
- Microsatellite Instability: A Review of Molecular Epidemiology and Implications for Immune Checkpoint Inhibitor Therapy.Cancers · 2023Review
- Genetic Predisposition to Colorectal Cancer: How Many and Which Genes to Test?International journal of molecular sciences · 2023Review
- Editorial: Identification, risk stratification, and optimized management for Lynch Syndrome.Frontiers in oncology · 2023Article
- PMS2-associated Lynch syndrome: Past, present and future.Frontiers in oncology · 2023Review
- Article
- No Difference in Penetrance between Truncating and Missense/Aberrant Splicing Pathogenic Variants inJournal of clinical medicine · 2021Article
- From Genetics to Histomolecular Characterization: An Insight into Colorectal Carcinogenesis in Lynch Syndrome.International journal of molecular sciences · 2021Review
Corrections and comments
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Authors and funding
39 authors at 20 institutions in 14 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeBiallelic pathogenic variants in the mismatch repair (MMR) genes cause a recessive childhood cancer predisposition syndrome known as constitutional mismatch repair deficiency (CMMRD). Family members with a heterozygous MMR variant have Lynch syndrome. We aimed at estimating cancer risk in these heterozygous carriers as a novel approach to avoid complicated statistical methods to correct for ascertainment bias.
methodsCumulative colorectal cancer incidence was estimated in a cohort of PMS2- and MSH6-associated families, ascertained by the CMMRD phenotype of the index, by using mutation probabilities based on kinship coefficients as analytical weights in a proportional hazard regression on the cause-specific hazards. Confidence intervals (CIs) were obtained by bootstrapping at the family level.
resultsThe estimated cumulative colorectal cancer risk at age 70 years for heterozygous PMS2 variant carriers was 8.7% (95% CI 4.3-12.7%) for both sexes combined, and 9.9% (95% CI 4.9-15.3%) for men and 5.9% (95% CI 1.6-11.1%) for women separately. For heterozygous MSH6 variant carriers these estimates are 11.8% (95% CI 4.5-22.7%) for both sexes combined, 10.0% (95% CI 1.83-24.5%) for men and 11.7% (95% CI 2.10-26.5%) for women.
conclusionOur findings are consistent with previous reports that used more complex statistical methods to correct for ascertainment bias. These results underline the need for MMR gene-specific surveillance protocols for Lynch syndrome.
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