Role of MCM8/9 variants in (colorectal) cancer predisposition

Project leaders

  • Maartje Nielsen, Clinical Genetics, Leiden University Medical Centre, Leiden, the Netherlands, email:
  • Yael Goldberg, Raphael Recanati Genetic Institute, Rabin Medical Center-Beilinson Hospital, Israel, email:
  • Sergi Castellví-Bel, Institut d’Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, email:
  • PhD-student: Noah Helderman, email:

Project Description

MCM8 (Minichromosome Maintenance 8 Homologous Recombination Repair Factor) and MCM9 (Minichromosome Maintenance 9 Homologous Recombination Repair Factor) encode for a helicase hexameric protein complex involved in multiple DNA repair mechanisms, including genome maintenance, meiotic recombination, homologous recombination and mismatch repair. Bi-allelic pathogenic variants of MCM8/9 have been widely associated with primary ovarian insufficiency and were recently reported in a limited number of patients with (colorectal) cancer and polyposis.

Our goal is to further explore the potential role of MCM8/9 variants in (colorectal) cancer predisposition. Therefore, this study aims (i) to investigate the molecular profile and mutational signatures of tumors from bi-allelic MCM8/9 carriers using whole-genome-sequencing, and (ii) to describe cancer aggregation in new families with bi-allelic MCM8/9 variants. For this, we would like to get in contact with clinicians and researchers known with bi-allelic MCM8/9 carriers, to see whether they have any follow-up data regarding the development of cancer and whether collaboration is possible.

  • Start date: June 2022
  • Duration: 1-2 years
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