A database to support the interpretation of human mismatch repair gene variants

2008 ◽  
Vol 29 (11) ◽  
pp. 1337-1341 ◽  
Author(s):  
Jianghua Ou ◽  
Renée C. Niessen ◽  
Jan Vonk ◽  
Helga Westers ◽  
Robert M.W. Hofstra ◽  
...  
Keyword(s):  
Mismatch Repair ◽  
Mismatch Repair Gene ◽  
Gene Variants ◽  
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

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 Verification of the three-step model in assessing the pathogenicity of mismatch repair gene variants

2010 ◽  
Vol 32 (1) ◽  
pp. 107-115 ◽  
Author(s):  
Minttu Kansikas ◽  
Reetta Kariola ◽  
Minna Nyström
Keyword(s):  
Mismatch Repair ◽  
Mismatch Repair Gene ◽  
Gene Variants ◽  
Repair Gene ◽  
Step Model

scholarly journals Germline mismatch repair gene variants analyzed by universal sequencing in Japanese cancer patients

2019 ◽  
Vol 8 (12) ◽  
pp. 5534-5543 ◽  
Author(s):  
Yoshimi Kiyozumi ◽  
Hiroyuki Matsubayashi ◽  
Yasue Horiuchi ◽  
Satomi Higashigawa ◽  
Takuma Oishi ◽  
...  
Keyword(s):  
Cancer Patients ◽  
Mismatch Repair ◽  
Mismatch Repair Gene ◽  
Gene Variants ◽  
Repair Gene

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 Evaluation of CADD Scores in Curated Mismatch Repair Gene Variants Yields a Model for Clinical Validation and Prioritization

2015 ◽  
Vol 36 (7) ◽  
pp. 712-719 ◽  
Author(s):  
K. Joeri Velde ◽  
Joël Kuiper ◽  
Bryony A. Thompson ◽  
John‐Paul Plazzer ◽  
Gert Valkenhoef ◽  
...  
Keyword(s):  
Mismatch Repair ◽  
Mismatch Repair Gene ◽  
Clinical Validation ◽  
Gene Variants ◽  
Repair Gene
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