ArticleMolecular genetics & genomic medicine2014
A massive parallel sequencing workflow for diagnostic genetic testing of mismatch repair genes.
Article in Molecular genetics & genomic medicine, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed.
- Lynch syndrome caused by SINE-VNTR-Alu-F retrotransposon insert in MSH6 confirmed after 20 years of testing: a case report and literature review.Hereditary cancer in clinical practice · 2025Article
- Novel De NovoInternational journal of molecular sciences · 2025Article
- Null Mismatch Repair Proteins Expression Reveals the Temporal Molecular Events in Lynch Syndrome-Related Cancers.Diagnostics (Basel, Switzerland) · 2024Article
- Genetic Variations of Ultraconserved Elements in the Human Genome.Omics : a journal of integrative biology · 2019Article
- Rare compound heterozygous mutations in geneClinical case reports · 2018Article
- The changing landscape of Lynch syndrome due to PMS2 mutations.Clinical genetics · 2018Review
- Screening for germline mutations in mismatch repair genes in patients with Lynch syndrome by next generation sequencing.Familial cancer · 2018Article
- Is there evidence that we should screen the general population for Lynch syndrome with genetic testing? A systematic review.Pharmacogenomics and personalized medicine · 2017Review
- Targeted next-generation sequencing of 22 mismatch repair genes identifies Lynch syndrome families.Cancer medicine · 2016Article
- Cracking the Code of Human Diseases Using Next-Generation Sequencing: Applications, Challenges, and Perspectives.BioMed research international · 2015Review
- Next-generation sequencing for genetic testing of familial colorectal cancer syndromes.Hereditary cancer in clinical practice · 2015Article
- Cell-free nucleic acids as noninvasive biomarkers for colorectal cancer detection.Frontiers in genetics · 2014Review
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Authors and funding
7 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The purpose of this study was to develop a massive parallel sequencing (MPS) workflow for diagnostic analysis of mismatch repair (MMR) genes using the GS Junior system (Roche). A pathogenic variant in one of four MMR genes, (MLH1, PMS2, MSH6, and MSH2), is the cause of Lynch Syndrome (LS), which mainly predispose to colorectal cancer. We used an amplicon-based sequencing method allowing specific and preferential amplification of the MMR genes including PMS2, of which several pseudogenes exist. The amplicons were pooled at different ratios to obtain coverage uniformity and maximize the throughput of a single-GS Junior run. In total, 60 previously identified and distinct variants (substitutions and indels), were sequenced by MPS and successfully detected. The heterozygote detection range was from 19% to 63% and dependent on sequence context and coverage. We were able to distinguish between false-positive and true-positive calls in homopolymeric regions by cross-sample comparison and evaluation of flow signal distributions. In addition, we filtered variants according to a predefined status, which facilitated variant annotation. Our study shows that implementation of MPS in routine diagnostics of LS can accelerate sample throughput and reduce costs without compromising sensitivity, compared to Sanger sequencing.
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