ArticleHuman mutation2013
Cancer risks for MLH1 and MSH2 mutation carriers.
Article in Human mutation, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 143 papers, 8 of them syntheses that pooled it.
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Who cites it
143 citing papers in PubMed, 8 syntheses or guidelines pooled it.
- 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
- Cervicovaginal specimen biomarkers for early detection of ovarian and endometrial cancer: A review.Cancer medicine · 2024Pooled it
- Japanese Society of Medical Oncology/Japan Society of Clinical Oncology/Japanese Society of Pediatric Hematology/Oncology-led clinical recommendations on the diagnosis and use of immunotherapy in patients with DNA mismatch repair deficient (dMMR) tumors, third edition.International journal of clinical oncology · 2023Guideline
- European guidelines from the EHTG and ESCP for Lynch syndrome: an updated third edition of the Mallorca guidelines based on gene and gender.The British journal of surgery · 2021Guideline
- Japan Society of Clinical Oncology provisional clinical opinion for the diagnosis and use of immunotherapy in patients with deficient DNA mismatch repair tumors, cooperated by Japanese Society of Medical Oncology, First Edition.International journal of clinical oncology · 2020Guideline
- SEOM clinical guidelines for endometrial cancer (2017).Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico · 2018Guideline
- Risk of breast cancer in Lynch syndrome: a systematic review.Breast cancer research : BCR · 2013Pooled it
- Clinical activity of durvalumab for patients with advanced mismatch repair-deficient and repair-proficient endometrial cancer. A nonrandomized phase 2 clinical trial.Journal for immunotherapy of cancer · 2021Trial
- Cumulative risks of colorectal cancer in Han Chinese patients with Lynch syndrome in Taiwan.Scientific reports · 2021Trial
- A randomized trial to increase colonoscopy screening in members of high-risk families in the colorectal cancer family registry and cancer genetics network.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2014Trial
- Evaluation of Mutation Risk Using Patient-Derived Organoids in Patients With Lynch Syndrome.International journal of cancer · 2026Article
- Aging and cancer: current understandings and future perspectives.Signal transduction and targeted therapy · 2026Review
- Risk of non-reproductive cancer in men from couples conceiving through assisted reproduction: a Swedish nation-based register study.European journal of epidemiology · 2026Article
- Genetic Predisposition to Pancreatic Cancer: A Systematic Review of Hereditary Syndromes and Familial Aggregation.Cancers · 2026Review
- ARID1A deficiency identifies molecular alterations and potential therapeutic implications in cervical clear cell carcinoma: an integrated genomic and clinicopathological study.Frontiers in oncology · 2026Article
- Double jeopardy: howFrontiers in cell and developmental biology · 2026Review
- Lynch Syndrome-Impact of the Type of Deficient Mismatch Repair Gene Mutation on Diagnosis, Clinical Presentation, Surveillance and Therapeutic Approaches.Medicina (Kaunas, Lithuania) · 2025Review
- A brief review of Lynch syndrome: understanding the dual cancer risk between endometrial and colorectal cancer.Oncology reviews · 2025Review
- Article
83 more citing papers are in PubMed but not listed here.
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Authors and funding
27 authors.
Funding
Abstract
We studied 17,576 members of 166 MLH1 and 224 MSH2 mutation-carrying families from the Colon Cancer Family Registry. Average cumulative risks of colorectal cancer (CRC), endometrial cancer (EC), and other cancers for carriers were estimated using modified segregation analysis conditioned on ascertainment criteria. Heterogeneity in risks was investigated using a polygenic risk modifier. Average CRC cumulative risks at the age of 70 years (95% confidence intervals) for MLH1 and MSH2 mutation carriers, respectively, were estimated to be 34% (25%-50%) and 47% (36%-60%) for male carriers and 36% (25%-51%) and 37% (27%-50%) for female carriers. Corresponding EC risks were 18% (9.1%-34%) and 30% (18%-45%). A high level of CRC risk heterogeneity was observed (P < 0.001), with cumulative risks at the age of 70 years estimated to follow U-shaped distributions. For example, 17% of male MSH2 mutation carriers have estimated lifetime risks of 0%-10% and 18% have risks of 90%-100%. Therefore, average risks are similar for the two genes but there is so much individual variation about the average that large proportions of carriers have either very low or very high lifetime cancer risks. Our estimates of CRC and EC cumulative risks for MLH1 and MSH2 mutation carriers are the most precise currently available.
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