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

    Cite this

    Tricarico, R., Kasela, M., Mareni, C., Thompson, B. A., Drouet, A., Staderini, L., ... InSiGHT Variant Interpretation (2017). Assessment of the InSiGHT Interpretation Criteria for the Clinical Classification of 24 MLH1 and MSH2 Gene Variants. Human Mutation, 38(1), 64-77. https://doi.org/10.1002/humu.23117
    Tricarico, Rossella ; Kasela, Mariann ; Mareni, Cristina ; Thompson, Bryony A. ; Drouet, Aurelie ; Staderini, Lucia ; Gorelli, Greta ; Crucianelli, Francesca ; Ingrosso, Valentina ; Kantelinen, Jukka ; Papi, Laura ; De Angioletti, Maria ; Berardi, Margherita ; Gaildrat, Pascaline ; Soukarieh, Omar ; Turchetti, Daniela ; Martins, Alexandra ; Spurdle, Amanda B. ; Nyström, Minna ; Genuardi, Maurizio ; InSiGHT Variant Interpretation. / Assessment of the InSiGHT Interpretation Criteria for the Clinical Classification of 24 MLH1 and MSH2 Gene Variants. In: Human Mutation. 2017 ; Vol. 38, No. 1. pp. 64-77.
    @article{d4f93bdaa2774931859771f51ee4dbb9,
    title = "Assessment of the InSiGHT Interpretation Criteria for the Clinical Classification of 24 MLH1 and MSH2 Gene Variants",
    keywords = "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",
    author = "Rossella Tricarico and Mariann Kasela and Cristina Mareni and Thompson, {Bryony A.} and Aurelie Drouet and Lucia Staderini and Greta Gorelli and Francesca Crucianelli and Valentina Ingrosso and Jukka Kantelinen and Laura Papi and {De Angioletti}, Maria and Margherita Berardi and Pascaline Gaildrat and Omar Soukarieh and Daniela Turchetti and Alexandra Martins and Spurdle, {Amanda B.} and Minna Nystr{\"o}m and Maurizio Genuardi and {InSiGHT Variant Interpretation}",
    year = "2017",
    month = "1",
    doi = "10.1002/humu.23117",
    language = "English",
    volume = "38",
    pages = "64--77",
    journal = "Human Mutation",
    issn = "1059-7794",
    publisher = "John Wiley & Sons, Ltd",
    number = "1",

    }

    Tricarico, R, Kasela, M, Mareni, C, Thompson, BA, Drouet, A, Staderini, L, Gorelli, G, Crucianelli, F, Ingrosso, V, Kantelinen, J, Papi, L, De Angioletti, M, Berardi, M, Gaildrat, P, Soukarieh, O, Turchetti, D, Martins, A, Spurdle, AB, Nyström, M, Genuardi, M & InSiGHT Variant Interpretation 2017, 'Assessment of the InSiGHT Interpretation Criteria for the Clinical Classification of 24 MLH1 and MSH2 Gene Variants', Human Mutation, vol. 38, no. 1, pp. 64-77. https://doi.org/10.1002/humu.23117

    Assessment of the InSiGHT Interpretation Criteria for the Clinical Classification of 24 MLH1 and MSH2 Gene Variants. / Tricarico, Rossella; Kasela, Mariann; Mareni, Cristina; Thompson, Bryony A.; Drouet, Aurelie; Staderini, Lucia; Gorelli, Greta; Crucianelli, Francesca; Ingrosso, Valentina; Kantelinen, Jukka; Papi, Laura; De Angioletti, Maria; Berardi, Margherita; Gaildrat, Pascaline; Soukarieh, Omar; Turchetti, Daniela; Martins, Alexandra; Spurdle, Amanda B.; Nyström, Minna; Genuardi, Maurizio; InSiGHT Variant Interpretation.

    In: Human Mutation, Vol. 38, No. 1, 01.2017, p. 64-77.

    Research output: Contribution to journalArticleScientificpeer-review

    TY - JOUR

    T1 - Assessment of the InSiGHT Interpretation Criteria for the Clinical Classification of 24 MLH1 and MSH2 Gene Variants

    AU - Tricarico, Rossella

    AU - Kasela, Mariann

    AU - Mareni, Cristina

    AU - Thompson, Bryony A.

    AU - Drouet, Aurelie

    AU - Staderini, Lucia

    AU - Gorelli, Greta

    AU - Crucianelli, Francesca

    AU - Ingrosso, Valentina

    AU - Kantelinen, Jukka

    AU - Papi, Laura

    AU - De Angioletti, Maria

    AU - Berardi, Margherita

    AU - Gaildrat, Pascaline

    AU - Soukarieh, Omar

    AU - Turchetti, Daniela

    AU - Martins, Alexandra

    AU - Spurdle, Amanda B.

    AU - Nyström, Minna

    AU - Genuardi, Maurizio

    AU - InSiGHT Variant Interpretation

    PY - 2017/1

    Y1 - 2017/1

    KW - Lynch syndrome

    KW - functional assays

    KW - splicing

    KW - Variants of Uncertain Significance (VUS)

    KW - multifactorial analysis

    KW - microsatellite instability

    KW - NONPOLYPOSIS COLORECTAL-CANCER

    KW - LYNCH-SYNDROME-DIAGNOSIS

    KW - MICROSATELLITE INSTABILITY

    KW - FUNCTIONAL-ANALYSIS

    KW - TUMOR CHARACTERISTICS

    KW - SEQUENCE VARIANTS

    KW - COLON-CANCER

    KW - MISSENSE SUBSTITUTIONS

    KW - MONONUCLEOTIDE REPEATS

    KW - SPLICING ASSAYS

    KW - 1184 Genetics, developmental biology, physiology

    U2 - 10.1002/humu.23117

    DO - 10.1002/humu.23117

    M3 - Article

    VL - 38

    SP - 64

    EP - 77

    JO - Human Mutation

    JF - Human Mutation

    SN - 1059-7794

    IS - 1

    ER -