Ontology highlight
ABSTRACT:
SUBMITTER: Drost M
PROVIDER: S-EPMC7200593 | biostudies-literature | 2020 May
REPOSITORIES: biostudies-literature
Drost Mark M Tiersma Yvonne Y Glubb Dylan D Kathe Scott S van Hees Sandrine S Calléja Fabienne F Zonneveld José B M JBM Boucher Kenneth M KM Ramlal Renuka P E RPE Thompson Bryony A BA Rasmussen Lene Juel LJ Greenblatt Marc S MS Lee Andrea A Spurdle Amanda B AB Tavtigian Sean V SV de Wind Niels N
Genetics in medicine : official journal of the American College of Medical Genetics 20200122 5
<h4>Purpose</h4>Variants in the DNA mismatch repair (MMR) gene MSH6, identified in individuals suspected of Lynch syndrome, are difficult to classify owing to the low cancer penetrance of defects in that gene. This not only obfuscates personalized health care but also the development of a rapid and reliable classification procedure that does not require clinical data.<h4>Methods</h4>The complete in vitro MMR activity (CIMRA) assay was calibrated against clinically classified MSH6 variants and, e ...[more]