Di-genic inheritance of germline POLE and PMS2 pathogenic variants causes a unique condition associated with pediatric cancer predisposition
Michaeli O1, Ladany H2, Erez A3, Shachar SB4, Izraeli S1 5, Lidzbarsky G6, Basel-Salmon L5 6, Biskup S7, Maruvka YE2, Toledano H# 1 5, Goldberg Y# 5 6
# Contributed equally.
- Department of Pediatric Hematology and Oncology, Schneider Children’s Medical Center of Israel, Petach Tikva, Israel.
- Biotechnology and Food Engineering, Technion – Israel Institute of Technology, Haifa, Israel.
- Department of Biological Regulation, Weizmann Institute of Science, Rehovot, Israel.
- Clalit Research Institute & Department of Genetics, Schneider Children’s Medical Center of Israel, Petach Tikva, Israel.
- Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
- Raphael Recanati Genetic Institute, Rabin Medical Center-Beilinson Hospital, Petach Tikva, Israel.
- CeGaT Center for Genomics and Transcriptomics, Tuebingen, Germany.