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

doi:10.1002/humu.23117

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

Human mutation - 1 Jan 2017

Tricarico Rossella, Kasela Mariann, Mareni Cristina, Thompson Bryony A, Drouet Aurélie, 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

Abstract excerpt

Pathogenicity assessment of DNA variants in disease genes to explain their clinical consequences is an integral component of diagnostic molecular testing. The International Society for Gastrointestinal Hereditary Tumors (InSiGHT) has developed specific criteria for the interpretation of mismatch repair (MMR) gene variants. Here, we performed a systematic investigation of 24 MLH1 and MSH2 variants. The assessments...

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Identifiers

PMID: 27629256
DOI: 10.1002/humu.23117

Genes

MLH1
MSH2
BRCA1
BRCA2

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