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    Microsatellite Instability Use in Mismatch Repair Gene Sequence Variant Classification

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    Author
    Thompson, BA; Spurdle, AB
    Date
    2015-06-01
    Source Title
    Genes
    Publisher
    MDPI
    University of Melbourne Author/s
    Thompson, Bryony
    Affiliation
    Clinical Pathology
    Metadata
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    Document Type
    Journal Article
    Citations
    Thompson, B. A. & Spurdle, A. B. (2015). Microsatellite Instability Use in Mismatch Repair Gene Sequence Variant Classification. GENES, 6 (2), pp.150-162. https://doi.org/10.3390/genes6020150.
    Access Status
    Open Access
    URI
    http://hdl.handle.net/11343/258933
    DOI
    10.3390/genes6020150
    Abstract
    Inherited mutations in the DNA mismatch repair genes (MMR) can cause MMR deficiency and increased susceptibility to colorectal and endometrial cancer. Microsatellite instability (MSI) is the defining molecular signature of MMR deficiency. The clinical classification of identified MMR gene sequence variants has a direct impact on the management of patients and their families. For a significant proportion of cases sequence variants of uncertain clinical significance (also known as unclassified variants) are identified, constituting a challenge for genetic counselling and clinical management of families. The effect on protein function of these variants is difficult to interpret. The presence or absence of MSI in tumours can aid in determining the pathogenicity of associated unclassified MMR gene variants. However, there are some considerations that need to be taken into account when using MSI for variant interpretation. The use of MSI and other tumour characteristics in MMR gene sequence variant classification will be explored in this review.

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