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

Autor: Dylan M. Glubb, Niels de Wind, Helga Westers, Christi J. van Asperen, Marc S. Greenblatt, Susan S. Wallace, Lisa Pappas, Scott D. Kathe, Sean V. Tavtigian, Rolf H. Sijmons, David E. Goldgar, Jane H. Frederiksen, Kenneth M. Boucher, Guido Keijzers, Bryony A. Thompson, Yvonne Tiersma, Mark Drost, Jan Osinga, José B. M. Zonneveld, Siska Molenkamp, Amanda B. Spurdle, Lene Juel Rasmussen

Publikováno v: Genetics in Medicine
Genetics in Medicine, 21(7), 1486-1496. Nature Publishing Group
Genet Med
Genetics in Medicine, 21(7), 1486-1496. NATURE PUBLISHING GROUP

PURPOSE:To enhance classification of variants of uncertain significance (VUS) in the DNA mismatch repair (MMR) genes in the cancer predisposition Lynch syndrome, we developed the cell-free in vitro MMR activity (CIMRA) assay. Here, we calibrate and v

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::082cc0768af270ad64b66a6c9f68250d
https://doi.org/10.1038/s41436-018-0372-2