Zsofia Kinga Stadler

Integrated Clinicogenomic Risk Modeling for Metachronous Second Primary Cancers

The paper develops and validates a clinicogenomic risk model to predict second primary cancers in cancer survivors using genetic, clinical, and lifestyle factors.

The Impact of Breast Cancer Polygenic Risk Score Disclosure on Decisional Conflict Around Risk-Reducing Mastectomy in BRCA1/2 Carriers

This study examines if disclosing polygenic risk scores reduces decisional conflict in BRCA1/2 carriers considering risk-reducing mastectomy, finding decreased conflict and moderation by tolerance for ambiguity.

Exploring the genetic and epigenetic underpinnings of early-onset cancers: Variant prioritization for long read whole genome sequencing from family cancer pedigrees

This study uses long-read whole genome sequencing from family cancer pedigrees to prioritize genetic variants in early-onset cancers, identifying potential disease-causing mutations.

Oncologic Therapy Shapes the Fitness Landscape of ClonalHematopoiesis

The paper shows oncologic therapy increases clonal hematopoiesis with DDR mutations, which predicts risk of therapy-related myeloid neoplasms.

Towards automation of germline variant curation in clinical cancer genetics

PathoMAN automates germline variant curation using ACMG guidelines, achieving high concordance with expert curation and proposing refinements for better ClinVar reporting.