Maio A

No ORCID on file · 1 paper in corpus · active 2022
2022
Early age of onset and broad cancer spectrum persist in MSH6- and PMS2-associated Lynch syndrome.
Genetics in medicine : official journal of the American College of Medical Genetics ·doi:10.1016/j.gim.2022.02.016

PurposeThis study aimed to characterize MSH6/PMS2-associated mismatch repair-deficient (MMR-D)/microsatellite instability-high (MSI-H) tumors, given revised guidelines suggesting more modest phenotypes.MethodsPatients who consented to Insti…