Abstract
The large majority of germline alterations identified in the DNA
mismatch repair (MMR) gene PMS2, a low-penetrance gene for the cancer
predisposition Lynch Syndrome (LS, OMIM 120435), represent variants of
unknown significance (VUS). The inability to assess pathogenicity of
such VUS interferes with personalized healthcare. The complete in vitro
MMR activity (CIMRA) assay, that only requires sequence information on
the VUS, provides a functional analysis-based tool suited for VUS
classification. To derive a formula that translates CIMRA assay results
for PMS2 VUS into the odds of pathogenicity (OddsPath), we used a set of
clinically classified PMS2 variants, supplemented by inactivating
variants generated by an in cellulo genetic screen, as proxies for
pathogenic variants. Validation of this OddsPath revealed very high
predictive values for PMS2 VUS. We conclude that this OddsPath provides
an integral metric that, similar to the other, higher penetrance, MMR
proteins MSH2, MLH1 and MSH6, can be incorporated into the upcoming
criteria for MMR gene VUS classification of the American College of
Medical Genetics and Genomics and the Association for Molecular
Pathology (ACMG/AMP). This will represent a seminal step forward in
enabling personalized healthcare for individuals suspected of LS and
their relatives.