Zsofia K Stadler

No ORCID on file · 3 papers in corpus
observational 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

PURPOSE: This 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. METHODS: Patients who consented to…

other 2021
Clonal relationship and directionality of progression of synchronous endometrial and ovarian carcinomas in patients with DNA mismatch repair-deficiency associated syndromes
Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc ·doi:10.1038/s41379-020-00721-6

Sporadic synchronous endometrial (ECs) and ovarian cancers (OCs), although clinically considered to be independent primaries, have been shown to be clonally related and likely constitute metastases from each other. We sought to define wheth…

meta-analysis 2019
Discovery of common and rare genetic risk variants for colorectal cancer
Nature genetics ·doi:10.1038/s41588-018-0286-6

To further dissect the genetic architecture of colorectal cancer (CRC), we performed whole-genome sequencing of 1,439 cases and 720 controls, imputed discovered sequence variants and Haplotype Reference Consortium panel variants into genome…