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Reclassification of Two MLH1 Variants of Uncertain Significance Utilizing Clinical and Functional Data

ABSTRACT Background Pathogenic variants in the mismatch repair genes are associated with an elevated lifetime risk of colorectal cancer (CRC). We previously identified two variants of uncertain significance (VUS) in the MLH1 gene, c.696_698del, p.(Cys233del) and c.1919C > G, p.(Pro640Arg), in Danish...

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Principais autores: Jane Hübertz Frederiksen, Ulf Birkedal, Sarah Bachmann, Elisabeth Victoria Eliesen, Lene Juel Rasmussen, Katja Venborg Pedersen, Lana Al‐Zehhawi, Susanne E. Boonen, Lotte Krogh, Karina Rønlund, Lise Graversen, Jannie Assenholt, Kjeld Schmiegelow, Karin Wadt, Anne‐Marie Gerdes, Thomas v. O. Hansen
Format: Artigo
Sprog:Inglês
Udgivet: Wiley 2024-11-01
Serier:Molecular Genetics & Genomic Medicine
Fag:
ACMG/AMP classification
Lynch syndrome
MLH1
nuclear localization
protein stability
RNA splicing analysis
Online adgang:https://doi.org/10.1002/mgg3.70026
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