A new syndrome caused by biallelic mutations — those produced in both gene copies inherited from the mother and father — in the FANCM gene predisposes the body to the appearance of tumours and causes rejection to chemotherapy treatments. Contrary to what scientists believed, the gene does not cause Fanconi anemia. Researchers recommend modifying the clinical monitoring of patients with these mutations.
A research led by Jordi Surrallés, professor of the Department of Genetics and Microbiology at the Universitat Autònoma de Barcelona, director of the Genetics Unit at the Hospital de la Santa Creu i Sant Pau and lead researcher at the Centre for Biomedical Network Research on Rare Diseases (CIBERER), has identified a new genetic syndrome caused by mutations in both copies of the FANCM gene, also known as biallelic mutations.
