ArticleMolecular genetics & genomic medicine2019
Somatic mosaicism by a de novo MLH1 mutation as a cause of Lynch syndrome.
Article in Molecular genetics & genomic medicine, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 1 of them a synthesis that pooled it.
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Who cites it
16 citing papers in PubMed, 1 synthesis or guideline pooled it, 22 citations in OpenAlex.
- Unexplained mismatch repair deficiency: Case closed.HGG advances · 2023Pooled it
- End of a diagnostic odyssey: the added value of multi-tissue analysis in the identification of mosaicism in tumour predisposition syndromes.Journal of medical genetics · 2026Article
- Lynch Syndrome in Focus: A Multidisciplinary Review of Cancer Risk, Clinical Management, and Special Populations.Cancers · 2025Review
- Tumor analysis of MMR genes in Lynch-like syndrome: Challenges associated with results interpretation.Cancer medicine · 2024Article
- De novo germline pathogenic variant in Lynch Syndrome: A rare event or the tip of the iceberg?Tumori · 2024Article
- Double Duty: Complete Pathologic Response of Two Colonic Primaries with Mosaicism of a NovelCurrent oncology (Toronto, Ont.) · 2023Article
- A mosaic pathogenic variant in MSH6 causes MSH6-deficient colorectal and endometrial cancer in a patient classified as suspected Lynch syndrome: a case report.Familial cancer · 2023Article
- A de novo pathogenic variant in the MSH6 gene in a 52 years-old woman.Familial cancer · 2022Article
- Review
- Germline and Tumor Sequencing as a Diagnostic Tool To Resolve Suspected Lynch Syndrome.The Journal of molecular diagnostics : JMD · 2021Article
- Diagnosis of Lynch Syndrome and Strategies to Distinguish Lynch-Related Tumors from Sporadic MSI/dMMR Tumors.Cancers · 2021Review
- How Should We Test for Lynch Syndrome? A Review of Current Guidelines and Future Strategies.Cancers · 2021Review
- Constitutional mosaicism for a BRCA2 mutation as a cause of early-onset breast cancer.Familial cancer · 2020Article
- The missing heritability of familial colorectal cancer.Mutagenesis · 2020Review
- Highly sensitive MLH1 methylation analysis in blood identifies a cancer patient with low-level mosaic MLH1 epimutation.Clinical epigenetics · 2019Article
- Somatic mosaicism by a de novo MLH1 mutation as a cause of Lynch syndrome.Molecular genetics & genomic medicine · 2019Article
Corrections and comments
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Authors and funding
6 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundLynch syndrome (LS) is caused by germline mismatch repair (MMR) gene mutations. De novo MMR gene mutations are rare, and somatic mosaicism in LS is thought to be infrequent. We describe the first case of somatic mosaicism by a de novo MLH1 mutation for a patient diagnosed with a rectosigmoid adenocarcinoma at age 31.
methodsTwelve years after initial colorectal cancer diagnosis, tumor tissue of the patient was tested with sensitive next generation sequencing (NGS) analysis for the presence of somatic MMR mutations.
resultsIn tumor tissue, an inactivating MLH1 mutation (c.518_519del; p.(Tyr173Trpfs*18)) was detected, which was also present at low level in the blood of the patient. In both parents, as well as the patient's sisters, the mutation was not present.
conclusionWe show that low-level mosaicism can be detected by using high-coverage targeted NGS panels on constitutional and/or tumor DNA. This report illustrates that by using sensitive sequencing techniques, more cases of genetic diseases driven by mosaic mutations may be identified, with important clinical consequences for patients and family members.
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