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 Genuardi & 1 muut InSiGHT Variant Interpretation

Tutkimustuotos: ArtikkelijulkaisuArtikkeliTieteellinenvertaisarvioitu

Alkuperäiskielienglanti
LehtiHuman Mutation
Vuosikerta38
Numero1
Sivut64-77
Sivumäärä14
ISSN1059-7794
DOI - pysyväislinkit
TilaJulkaistu - tammikuuta 2017
OKM-julkaisutyyppiA1 Alkuperäisartikkeli tieteellisessä aikakauslehdessä, vertaisarvioitu

Tieteenalat

  • 1184 Genetiikka, kehitysbiologia, fysiologia

Lainaa tätä

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. Julkaisussa: Human Mutation. 2017 ; Vuosikerta 38, Nro 1. Sivut 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, Vuosikerta 38, Nro 1, Sivut 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.

julkaisussa: Human Mutation, Vuosikerta 38, Nro 1, 01.2017, s. 64-77.

Tutkimustuotos: ArtikkelijulkaisuArtikkeliTieteellinenvertaisarvioitu

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 -