Evaluation of MLH1 variants of unclear significance

Inactivating mutations in the MLH1 gene cause the cancer predisposition Lynch syndrome, but for small coding genetic variants it is mostly unclear if they are inactivating or not. Nine such MLH1 variants have been identified in South American colorectal cancer (CRC) patients (p.Tyr97Asp, p.His112Gln...

Ausführliche Beschreibung

Gespeichert in:

Bibliographische Detailangaben
Veröffentlicht in:	Genes chromosomes & cancer 2018-07, Vol.57 (7), p.350-358
Hauptverfasser:	Köger, Nicole, Paulsen, Lea, López-Kostner, Francisco, Della Valle, Adriana, Vaccaro, Carlos Alberto, Palmero, Edenir Inêz, Alvarez, Karin, Sarroca, Carlos, Neffa, Florencia, Kalfayan, Pablo German, Gonzalez, Maria Laura, Rossi, Benedito Mauro, Reis, R. M., Brieger, Angela, Zeuzem, Stefan, Hinrichsen, Inga, Dominguez-Valentin, Mev, Plotz, Guido
Format:	Artikel
Sprache:	eng
Schlagworte:	Ciências Médicas classification Colorectal cancer Colorectal carcinoma Colorectal Neoplasms Colorectal Neoplasms, Hereditary Nonpolyposis - ethnology Colorectal Neoplasms, Hereditary Nonpolyposis - genetics Computer Simulation Genetic disorders Genetic diversity Genetic Predisposition to Disease Genetic variance HEK293 Cells Hereditary Nonpolyposis Humans Laboratory tests Lynch syndrome Medicina Básica Middle Aged mlh1 MLH1 protein Mutation MutL Protein Homolog 1 MutL Protein Homolog 1 - chemistry MutL Protein Homolog 1 - genetics Pathogenicity Pathogens Protein Conformation Proteins Science & Technology South America variant of uncertain significance
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!

Schreiben Sie den ersten Kommentar!