Pathological assessment of mismatch repair gene variants in Lynch syndrome: Past, present, and future

2012 ◽  
Vol 33 (12) ◽  
pp. 1617-1625 ◽  
Author(s):  
Lene Juel Rasmussen ◽  
Christopher D. Heinen ◽  
Brigitte Royer-Pokora ◽  
Mark Drost ◽  
Sean Tavtigian ◽  
...  
Keyword(s):  
Lynch Syndrome ◽  
Mismatch Repair ◽  
Mismatch Repair Gene ◽  
Gene Variants ◽  
Repair Gene ◽  
Pathological Assessment

scholarly journals Splicing analysis for exonic and intronic mismatch repair gene variants associated with Lynch syndrome confirms high concordance between minigene assays and patient RNA analyses

2015 ◽  
Vol 3 (4) ◽  
pp. 327-345 ◽  
Author(s):  
Heleen M. van der Klift ◽  
Anne M. L. Jansen ◽  
Niki van der Steenstraten ◽  
Elsa C. Bik ◽  
Carli M. J. Tops ◽  
...  
Keyword(s):  
Lynch Syndrome ◽  
Mismatch Repair ◽  
Mismatch Repair Gene ◽  
Gene Variants ◽  
Repair Gene ◽  
High Concordance

scholarly journals A functional assay–based procedure to classify mismatch repair gene variants in Lynch syndrome

2018 ◽  
Vol 21 (7) ◽  
pp. 1486-1496 ◽  
Author(s):  
Mark Drost ◽  
Yvonne Tiersma ◽  
Bryony A. Thompson ◽  
Jane H. Frederiksen ◽  
Guido Keijzers ◽  
...  
Keyword(s):  
Lynch Syndrome ◽  
Mismatch Repair ◽  
Mismatch Repair Gene ◽  
Functional Assay ◽  
Gene Variants ◽  
Repair Gene

scholarly journals Improving Lynch Syndrome Diagnostics by Multiplex Snapshot Assays for the Detection of Mismatch Repair Gene LOH in MSI-H Tumors

2011 ◽  
Vol 140 (5) ◽  
pp. S-96
Author(s):  
Celine H. Leenen ◽  
Ina R. Geurts-Giele ◽  
Erik Jan Dubbink ◽  
Ernst J. Kuipers ◽  
Monique van Leerdam ◽  
...  
Keyword(s):  
Lynch Syndrome ◽  
Mismatch Repair ◽  
Mismatch Repair Gene ◽  
Repair Gene

scholarly journals Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database

2013 ◽  
Vol 46 (2) ◽  
pp. 107-115 ◽  
Author(s):  
Bryony A Thompson ◽  
◽  
Amanda B Spurdle ◽  
John-Paul Plazzer ◽  
Marc S Greenblatt ◽  
...  
Keyword(s):  
Mismatch Repair ◽  
Mismatch Repair Gene ◽  
Gene Variants ◽  
Repair Gene

scholarly journals Understanding the Pathogenicity of Noncoding Mismatch Repair Gene Promoter Variants in Lynch Syndrome

2016 ◽  
Vol 37 (5) ◽  
pp. 417-426 ◽  
Author(s):  
Qing Liu ◽  
Bryony A. Thompson ◽  
Robyn L. Ward ◽  
Luke B. Hesson ◽  
Mathew A. Sloane
Keyword(s):  
Lynch Syndrome ◽  
Mismatch Repair ◽  
Gene Promoter ◽  
Mismatch Repair Gene ◽  
Repair Gene

scholarly journals Spectrum of mismatch repair gene mutations and clinical presentation of Hispanic individuals with Lynch syndrome

2017 ◽  
Vol 212-213 ◽  
pp. 1-7 ◽  
Author(s):  
Annette Y. Sunga ◽  
Charité Ricker ◽  
Carin R. Espenschied ◽  
Danielle Castillo ◽  
Marilena Melas ◽  
...  
Keyword(s):  
Lynch Syndrome ◽  
Mismatch Repair ◽  
Clinical Presentation ◽  
Gene Mutations ◽  
Mismatch Repair Gene ◽  
Repair Gene ◽  
Mismatch Repair Gene Mutations
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