A new study led by Jordi Surrallés, lead investigator at the Centre for Biomedical Network Research on Rare Diseases (CIBERER) recognised that a new genetic syndrome caused by biallelic mutations increased the risk of early cancer formation and caused rejection to chemotherapy treatments. Hence, scientists advised modifying the clinical treatment for people with these mutations.
Mutations produced in both copies of the FANCM gene known as biallelic mutations. In Contrast, scientists found that the gene didn’t cause Fanconi anaemia. The research was published in Genetics in Medicine.