ArticleCancer medicine2016
Targeted next-generation sequencing of 22 mismatch repair genes identifies Lynch syndrome families.
Article in Cancer medicine, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed.
- Melanoma-patient-derived xenograft multi-omics resource melPDomiX maps gain- and loss-of-function alterations.Cell reports · 2026Article
- Traditional and New Views on MSI-H/dMMR Endometrial Cancer.Biomolecules · 2025Review
- Rare germline variants in POLE and POLD1 encoding the catalytic subunits of DNA polymerases ε and δ in glioma families.Acta neuropathologica communications · 2023Article
- A simplified two-marker immunohistochemistry strategy for Lynch syndrome screening in endometrial cancer patients.Obstetrics & gynecology science · 2023Article
- Article
- Microsatellite Instability in Colorectal Cancer Liquid Biopsy-Current Updates on Its Potential in Non-Invasive Detection, Prognosis and as a Predictive Marker.Diagnostics (Basel, Switzerland) · 2021Review
- Analysis of genomic pathogenesis according to the revised Bethesda guidelines and additional criteria.Journal of cancer research and clinical oncology · 2021Article
- Diagnostics of Mutations in MMR/Diagnostics (Basel, Switzerland) · 2020Review
- Targeted sequencing of genes associated with the mismatch repair pathway in patients with endometrial cancer.PloS one · 2020Article
- New Pathogenic Germline Variants in Very Early Onset and Familial Colorectal Cancer Patients.Frontiers in genetics · 2020Article
- Comprehensive mismatch repair gene panel identifies variants in patients with Lynch-like syndrome.Molecular genetics & genomic medicine · 2019Article
- Comparison of screening strategies for Lynch syndrome in patients with newly diagnosed endometrial cancer: a prospective cohort study in China.Cancer communications (London, England) · 2019Article
- Advances in Identification of Susceptibility Gene Defects of Hereditary Colorectal Cancer.Journal of Cancer · 2019Review
- Screening for germline mutations in mismatch repair genes in patients with Lynch syndrome by next generation sequencing.Familial cancer · 2018Article
- Mismatch repair single nucleotide polymorphisms and thyroid cancer susceptibility.Oncology letters · 2018Article
- Next-generation sequencing: recent applications to the analysis of colorectal cancer.Journal of translational medicine · 2017Review
- Incomplete Segregation of MSH6 Frameshift Variants with Phenotype of Lynch Syndrome.International journal of molecular sciences · 2017Article
- Novel Implications in Molecular Diagnosis of Lynch Syndrome.Gastroenterology research and practice · 2017Review
- Targeted next-generation sequencing of 22 mismatch repair genes identifies Lynch syndrome families.Cancer medicine · 2016Article
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9 authors.
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No grant is acknowledged in the PubMed record.
Abstract
Causative germline mutations in mismatch repair (MMR) genes can only be identified in ~50% of families with a clinical diagnosis of the inherited colorectal cancer (CRC) syndrome hereditary nonpolyposis colorectal cancer (HNPCC)/Lynch syndrome (LS). Identification of these patients are critical as they are at substantially increased risk of developing multiple primary tumors, mainly colorectal and endometrial cancer (EC), occurring at a young age. This demonstrates the need to develop new and/or more thorough mutation detection approaches. Next-generation sequencing (NGS) was used to screen 22 genes involved in the DNA MMR pathway in constitutional DNA from 14 HNPCC and 12 sporadic EC patients, plus 2 positive controls. Several softwares were used for analysis and functional annotation. We identified 5 exonic indel variants, 42 exonic nonsynonymous single-nucleotide variants (SNVs) and 1 intronic variant of significance. Three of these variants were class 5 (pathogenic) or class 4 (likely pathogenic), 5 were class 3 (uncertain clinical relevance) and 40 were classified as variants of unknown clinical significance. In conclusion, we have identified two LS families from the sporadic EC patients, one without a family history of cancer, supporting the notion for universal MMR screening of EC patients. In addition, we have detected three novel class 3 variants in EC cases. We have, in addition discovered a polygenic interaction which is the most likely cause of cancer development in a HNPCC patient that could explain previous inconsistent results reported on an intronic EXO1 variant.
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