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Inversion of exons 1-7 of the MSH2 gene is a frequent cause of unexplained Lynch syndrome in one local population. Fam Cancer 2014, 13:219-25. 24114314; Mensenkamp AR, et al. Somatic mutations in MLH1 and MSH2 are a frequent cause of mismatch-repair deficiency in Lynch syndrome-like tumors. Gastroenterology 2014, 146:643-646.e8. 24333619 Approximately one-third of individuals diagnosed with colorectal cancer have a family history of cancer, suggesting that CRCs may result from a heritable component. Despite the availability of current gene-identification techniques, only 5% of all CRCs emerge from well-identifiable inherited causes for predisposition, including polyposis and nonpolyposis syndromes.
MMGL NGS Pipeline. Variant analysis. Mapping FASTQ reads to a reference genome. Variant calling. QC/QA analysis. DNA mismatch repair protein Msh2 also known as MutS homolog 2 or MSH2 is a protein that in humans is encoded by the MSH2 gene, which is located on Jan 29, 2015 Colon tumor testing by MSI and IHC for presence of MLH1, MSH2, MSH6 MSH2 inversion (individuals with absent MSH2) Gastroentology the “Boland” inversion of MSH2 exon 1-7), our generalized methodology also allowed detection of novel inversions in PMS2 and.
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In the literature, it is also known as the 10-Mb paracentric inversion of the MSH2 gene. Identifying the genetic cause of a condition can allow clinicians to accurately manage a patient. Find the right test. MSH2 inversions are not, however, as readily detected by commercial platforms and should be considered in apparently nonmutated cases with a strong clinical suspicion and MSH2/MSH6 loss of expression.
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MSH2 Inversion Analysis GTR Test IDHelpEach Test is a specific, orderable test from a particular laboratory, and is assigned a unique GTR accession number. The format is GTR00000001.1, with a leading prefix 'GTR' followed by 8 digits, a period, then 1 or more digits representing the version. MSH2 inversion of exons 1-7 was found in four probands previously suspected to have Lynch syndrome based on family history and tumor testing.
Rhees J et al. Inversion of exons 1-7 of the MSH2 gene is a frequent cause of unexplained Lynch syndrome in one local population.
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We have also identified another inversion of exons 2 to 6 within the MSH2 gene in a different family with a history of Lynch syndrome, which will not be detected by the MLPA assay. It is currently unclear how common inversions within the MSH2 gene are and further testing of intronic regions within this gene would be required to gain a better understanding. MSH2 Inversion Analysis.
MSH2 inversion of exons 1-7 was found in four probands previously suspected to have Lynch syndrome based on family history and tumor testing.
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24114314; Li J et al. Point Mutations in Exon 1B of APC Reveal Gastric Adenocarcinoma and Proximal Polyposis of the Stomach as a Familial Adenomatous Polyposis Variant.
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Detect germline MSH2 variants.