ArticleGenetics in medicine : official journal of the American College of Medical Genetics2016
Patients with colorectal cancer associated with Lynch syndrome and MLH1 promoter hypermethylation have similar prognoses.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers, 1 of them a synthesis that pooled it.
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Who cites it
28 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Microsatellite instability and mismatch repair deficiency prevalence among Hispanic/Latino individuals with colorectal cancer: a systematic review and meta-analysis.International journal of colorectal disease · 2026Pooled it
- Health Behaviors and Cancer Diagnosis Among Individuals with Pathogenic Variants Associated with Hereditary Breast and Ovarian Cancer or Lynch Syndrome.Journal of personalized medicine · 2025Article
- Feasibility and impact of Lynch syndrome genetic testing in newly diagnosed colorectal cancer patients: a multicenter observational study in Greece.ESMO gastrointestinal oncology · 2025Article
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- Article
- Clinical features and impact of p53 status on sporadic mismatch repair deficiency and Lynch syndrome in uterine cancer.Cancer science · 2024Article
- Biallelic EPCAM deletions induce tissue-specific DNA repair deficiency and cancer predisposition.NPJ precision oncology · 2024Article
- Association between colorectal cancer, the frequency of Bacteroides fragilis, and the level of mismatch repair genes expression in the biopsy samples of Iranian patients.BMC gastroenterology · 2024Article
- Molecular Analysis of Colorectal Cancers Suggests a High Frequency of Lynch Syndrome in Indonesia.Cancers · 2021Article
- Deficiency of replication-independent DNA mismatch repair drives a 5-methylcytosine deamination mutational signature in cancer.Science advances · 2021Article
- Gene-Specific Variation in Colorectal Cancer Surveillance Strategies for Lynch Syndrome.Gastroenterology · 2021Article
- The Role of H3K4 Trimethylation in CpG Islands Hypermethylation in Cancer.Biomolecules · 2021Review
- Comparison of long-term outcomes between Lynch sydrome and sporadic colorectal cancer: a propensity score matching analysis.BMC cancer · 2021Article
- Mutated DNA Damage Repair Pathways Are Prognostic and Chemosensitivity Markers for Resected Colorectal Cancer Liver Metastases.Frontiers in oncology · 2021Article
- Diagnostics of Mutations in MMR/Diagnostics (Basel, Switzerland) · 2020Review
- Universal Screening of Gastrointestinal Malignancies for Mismatch Repair Deficiency at Stanford.JNCI cancer spectrum · 2020Article
- DNA Mismatch Repair Gene Variants in Sporadic Solid Cancers.International journal of molecular sciences · 2020Review
- Biomarker-guided therapy for colorectal cancer: strength in complexity.Nature reviews. Clinical oncology · 2020Review
- Transforming Growth Factor-β Signaling Pathway in Colorectal Cancer and Its Tumor Microenvironment.International journal of molecular sciences · 2019Review
- Constitutional Mosaic Epimutations - a hidden cause of cancer?Cell stress · 2019Review
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10 authors.
Funding
Abstract
purposeMismatch repair-deficient (dMMR) colorectal cancer (CRC) is caused by Lynch syndrome (LS) in 3% and sporadic inactivation of MLH1 by hypermethylation (MLH1-hm) in 12% of cases. It is not clear whether outcomes between LS-associated and MLH1-hm CRC differ. The objective of this study was to explore differences in clinical factors and outcomes in these two groups.
methodsPatients with dMMR CRC identified by immunohistochemistry staining and treated at a single institution from 1998 to 2012 were included. MLH1-hm was established with BRAF mutational analysis or hypermethylation testing. Patients' charts were accessed for information on pathology, germ-line MMR mutation testing, and clinical course.
resultsA total of 143 patients had CRC associated with LS (37 patients, 26%) or MLH1-hm (106 patients, 74%). Patients with LS were younger, more often male, presented more often with stage III disease, and had more metachronous disease than patients with MLH1-hm tumors. There was no difference in cancer-specific survival (CSS) between the groups; overall survival was longer in patients with LS, but this difference was minimal after adjusting for age and stage at diagnosis.
conclusionCSS did not differ in LS-associated CRC compared with MLH1-hm CRC, suggesting that they carry a similar prognosis.Genet Med 18 9, 863-868.
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