ArticleThe Journal of molecular diagnostics : JMD2005
Assay validation for identification of hereditary nonpolyposis colon cancer-causing mutations in mismatch repair genes MLH1, MSH2, and MSH6.
Article in The Journal of molecular diagnostics : JMD, 2005. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 30 citations in OpenAlex.
- Diagnostics and Therapy for Malignant Tumors.Biomedicines · 2024Review
- Article
- Targeted sequencing of genes associated with the mismatch repair pathway in patients with endometrial cancer.PloS one · 2020Article
- Germline MLH1, MSH2 and MSH6 variants in Brazilian patients with colorectal cancer and clinical features suggestive of Lynch Syndrome.Cancer medicine · 2018Article
- Suspected Lynch syndrome associated MSH6 variants: A functional assay to determine their pathogenicity.PLoS genetics · 2017Article
- ACMG technical standards and guidelines for genetic testing for inherited colorectal cancer (Lynch syndrome, familial adenomatous polyposis, and MYH-associated polyposis).Genetics in medicine : official journal of the American College of Medical Genetics · 2014Article
- Characterization of two Ashkenazi Jewish founder mutations in MSH6 gene causing Lynch syndrome.Clinical genetics · 2011Article
- De novo constitutional MLH1 epimutations confer early-onset colorectal cancer in two new sporadic Lynch syndrome cases, with derivation of the epimutation on the paternal allele in one.International journal of cancer · 2011Article
- Microsatellite instability in pediatric high grade glioma is associated with genomic profile and differential target gene inactivation.PloS one · 2011Article
- An Ashkenazi founder mutation in the MSH6 gene leading to HNPCC.Familial cancer · 2010Article
- Screening for germline mutations of MLH1, MSH2, MSH6 and PMS2 genes in Slovenian colorectal cancer patients: implications for a population specific detection strategy of Lynch syndrome.Familial cancer · 2009Article
- The germline MLH1 K618A variant and susceptibility to Lynch syndrome-associated tumors.The Journal of molecular diagnostics : JMDArticle
- Mutational analysis of thyroid transcription factor-1 gene (TTF-1) in lung carcinomas.In vitro cellular & developmental biology. AnimalArticle
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
Abstract
Hereditary nonpolyposis colon cancer (HNPCC, Online Mendelian Inheritance in Man (OMIM) 114500) is an autosomal dominant disorder that is genetically heterogeneous because of underlying mutations in mismatch repair genes, primarily MLH1, MSH2, and MSH6. One challenge to correctly diagnosing HNPCC is that the large size of the causative genes makes identification of mutations both labor intensive and expensive. We evaluated the usefulness of denaturing high performance liquid chromatography (DHPLC) for scanning mismatch repair genes (MLH1, MSH2, and MSH6) for point mutations, small deletions, and insertions. Our assay consisted of 51 sets of primers designed to amplify all exons of these genes. All polymerase chain reaction reactions were amplified simultaneously using the same reaction conditions in a 96-well format. The amplified products were analyzed by DHPLC across a range of optimum temperatures for partial fragment denaturation based on the melting profile of each specific fragment. DNA specimens from 23 previously studied HNPCC patients were analyzed by DHPLC, and all mutations were correctly identified and confirmed by sequence analysis. Here, we present our validation studies of the DHPLC platform for HNPCC mutation analysis and compare its merits with other scanning technologies. This approach provides greater sensitivity and more directed molecular analysis for clinical testing in HNPCC.
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