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. The results, published in Genetics in Medicine, the official journal of the American College of Medical Genetics and part of the Nature group, suggest that these mutations predispose the body to early formations of tumours and chemotherapy toxicity. In the article, lead author Massimo Bogliolo from the CIBERER research group led by Jordi Surrallés analysed biallelic mutations in the FANCM gene in three individuals. Despite the number of patients always being low in these types of studies, given that they deal with rare diseases, it was observed that there was an early onset of cancer and toxicity to chemotherapy, but the patients did not present any congenital malformations or haematological phenotype which could suggest being affected by Fanconi anemia, a rare disease which affects one out of every 100,000 children. Until now it was believed that the FANCM gene was related to this disease, given that in 2005 the biallelic mutation was observed in patients suffering from Fanconi anemia.