Maartje Nielsen

This study identifies biallelic germline variants in MCM8 and MCM9 as linked to polyposis, gastric cancer, early-onset colorectal cancer, and hypogonadism, with MCM9 variants showing stronger associations.

The paper introduces a new inverse probability of selection weighted Cox model to correct for outcome-dependent sampling bias in survival analysis, demonstrating its effectiveness through simulations and real datasets.

The paper identifies APC mosaicism in patients with colorectal adenomas, finds higher prevalence in those meeting hereditary polyposis guidelines, and recommends targeted testing and surveillance.

This study provides cancer risk estimates for MSH6 pathogenic variant carriers, identifying elevated risks for specific cancers like endometrial and ovarian cancer.

The paper examines immune profiles in Lynch syndrome colorectal cancers across different MMR gene defects and finds no significant differences in immunogenic features.

The paper compares microsatellite instability in colorectal carcinomas from MSH6-associated Lynch syndrome patients to other MMR-deficient groups and sporadic MSI CRCs, finding lower MSI in MSH6-mutated tumors.