Assessment of the InSiGHT Interpretation Criteria for the Clinical Classification of 24 MLH1 and MSH2 Gene Variants

Rossella Tricarico, Mariann Kasela, Cristina Mareni, Bryony A. Thompson, Aurelie Drouet, Lucia Staderini, Greta Gorelli, Francesca Crucianelli, Valentina Ingrosso, Jukka Kantelinen, Laura Papi, Maria De Angioletti, Margherita Berardi, Pascaline Gaildrat, Omar Soukarieh, Daniela Turchetti, Alexandra Martins, Amanda B. Spurdle, Minna Nyström, Maurizio GenuardiInSiGHT Variant Interpretation

    Research output: Contribution to journalArticleScientificpeer-review

    Original languageEnglish
    JournalHuman Mutation
    Volume38
    Issue number1
    Pages (from-to)64-77
    Number of pages14
    ISSN1059-7794
    DOIs
    Publication statusPublished - Jan 2017
    MoE publication typeA1 Journal article-refereed

    Fields of Science

    • Lynch syndrome
    • functional assays
    • splicing
    • Variants of Uncertain Significance (VUS)
    • multifactorial analysis
    • microsatellite instability
    • NONPOLYPOSIS COLORECTAL-CANCER
    • LYNCH-SYNDROME-DIAGNOSIS
    • MICROSATELLITE INSTABILITY
    • FUNCTIONAL-ANALYSIS
    • TUMOR CHARACTERISTICS
    • SEQUENCE VARIANTS
    • COLON-CANCER
    • MISSENSE SUBSTITUTIONS
    • MONONUCLEOTIDE REPEATS
    • SPLICING ASSAYS
    • 1184 Genetics, developmental biology, physiology

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