Molecular pathology of Lynch syndrome
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Summary
It is shown that the processes of autoimmunisation and immunoediting fundamentally constrain the development of tumours in LS and explain the efficacy of immune checkpoint blockade therapy in MMR‐deficient tumours.
- Type
- review
- Published
- 2020-03-06
- Cited by
- 137
- References
- 174
- Access
- Open access
- OpenAlex
- https://openalex.org/W3009345706
- Semantic Scholar
- https://api.semanticscholar.org/CorpusID:212567737
Keywords
Lynch syndrome, Molecular pathology, Pathology, Medicine, Biology
References
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- Heterogenous MSH6 Loss Is a Result of Microsatellite Instability Within MSH6 and Occurs in Sporadic and Hereditary Colorectal and Endometrial Carcinomas
- Selection, the mutation rate and cancer: Ensuring that the tail does not wag the dog
- PD-1 Blockade in Tumors with Mismatch-Repair Deficiency
- Replication errors in benign and malignant tumors from hereditary nonpolyposis colorectal cancer patients.
- ClinGen — The Clinical Genome Resource
- Genetic, immunohistochemical, and clinical features of medullary carcinoma of the pancreas: A newly described and characterized entity.
- Importance of universal mismatch repair protein immunohistochemistry in patients with sebaceous neoplasia as an initial screening tool for Muir-Torre syndrome.
- How can histopathologists help clinical genetics in the investigation of suspected hereditary gastrointestinal cancer
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- Heritable somatic methylation and inactivation of MSH2 in families with Lynch syndrome due to deletion of the 3′ exons of TACSTD1
- The Spread of Rectal Cancer and its Effect on Prognosis
- A cell‐free assay for the functional analysis of variants of the mismatch repair protein MLH1
- Immune evasion of microsatellite unstable colorectal cancers
- BRAF mutation in sporadic colorectal cancer and Lynch syndrome
- The vigorous immune microenvironment of microsatellite instable colon cancer is balanced by multiple counter-inhibitory checkpoints
Cited by
- Genetic Susceptibility to Endometrial Cancer: Risk Factors and Clinical Management
- Unique clinicopathologic and genetic alteration features in early onset colorectal carcinoma (CRC) compared to age-related CRC: large cohort next generation sequence analysis
- The diversity of tumours with microsatellite instability: molecular mechanisms and impact upon microsatellite instability testing and mismatch repair protein immunohistochemistry
- Prevalence of mismatch repair deficiency and Lynch syndrome in a cohort of unselected small bowel adenocarcinomas
- NFE2L2 Is a Potential Prognostic Biomarker and Is Correlated with Immune Infiltration in Brain Lower Grade Glioma: A Pan-Cancer Analysis
- Acetylation and Deacetylation of DNA Repair Proteins in Cancers
- Hereditary Nonpolyposis Colon Cancer
- Artificial Intelligence for Histology-Based Detection of Microsatellite Instability and Prediction of Response to Immunotherapy in Colorectal Cancer
- Tumor mutational burden and mismatch repair deficiency discordance as a mechanism of immunotherapy resistance
- DNA Mismatch Repair and its Role in Huntington’s Disease
- The Transcriptomic Landscape of Mismatch Repair-Deficient Intestinal Stem Cells
- Lynch syndrome screening in colorectal cancer: results of a prospective 2‐year regional programme validating the NICE diagnostics guidance pathway throughout a 5.2‐million population
- Comprehensive analysis of clinical prognosis and molecular immune characterization of tropomyosin 4 in pancreatic cancer
- DNA methylation status of MutS genes in ameloblastoma.
- The contribution of Lynch syndrome to early onset malignancy in Ireland
- Genetic regressive trajectories in colorectal cancer: A new hallmark of oligo-metastatic disease?
- Identification of LOXL3-associating immune infiltration landscape and prognostic value in hepatocellular carcinoma
- Immunology of Lynch Syndrome
- Genomic alterations in gynecological malignancies: histotype-associated driver mutations, molecular subtyping schemes, and tumorigenic mechanisms
- Genomic context of NTRK1/2/3 fusion-positive tumours from a large real-world population
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