Role of MCM8/9 variants in (colorectal) cancer predisposition
- Maartje Nielsen, Clinical Genetics, Leiden University Medical Centre, Leiden, the Netherlands, email: email@example.com
- Yael Goldberg, Raphael Recanati Genetic Institute, Rabin Medical Center-Beilinson Hospital, Israel, email: firstname.lastname@example.org
- Sergi Castellví-Bel, Institut d’Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, email: SBEL@recerca.clinic.cat
- PhD-student: Noah Helderman, email: email@example.com
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