New genetic syndrome caused by biallelic mutations identified
Monday September 25th, 2017
A new genetic syndrome caused by biallelic mutations in the Fanconi anaemia complementation group M (FANCM) gene predisposes the body to cancer, new research has discovered.
Research led by Jordi Surrallés, professor of the Department of Genetics and Microbiology at the Universitat Autònoma de Barcelona and lead researcher at the Centre for Biomedical Network Research on Rare Diseases (CIBERER), Spain, concludes that the mutations cause the early development of cancer and chemotherapy toxicity.
Writing in Genetics in Medicine, lead author Massimo Bogliolo from the CIBERER research group describes how it analysed biallelic mutations in the FANCM gene in three people.
The team identified that although the participants developed early onset of cancer and toxicity to chemotherapy, none had congenital malformations or haematological phenotype, which would suggest Fanconi anaemia, a rare disease that affects one in 100,000 children.
A second article by researchers from Dr Surrallés' group, led by Javier Benítez, of CNIO, the Spanish National Cancer Research Centre, and the CIBERER, said that women with biallelic mutations in the FANCM gene did not develop Fanconi anaemia, but had a higher risk of breast cancer, chemotherapy toxicity and chromosomal fragility.
“Until now it was thought that biallelic mutations in the FANCM gene caused Fanconi anaemia, but we have now demonstrated that it is not so, given that in the two studies there were eight patients with these mutations and none of them had anaemia,” said Prof Surrallés.
However, because they had cancer at very early ages and also presented chemotherapy toxicity, the researchers now recommend modifying the clinical monitoring of patients with biallelic mutations in the FANCM gene. They also say that precautions should be taken when using chemotherapy and radiation therapies.
Bogliolo M, Bluteau D, Lespinasse J et al. Biallelic truncating FANCM mutations cause early-onset cancer but not Fanconi anemia. Genetics in Medicine September 2017. DOI: 10.1038/gim.2017.124 [abstract]
Irene Catucci et al. Individuals with FANCM biallelic mutations do not develop Fanconi anemia, but show risk for breast cancer, chemotherapy toxicity and may display chromosome fragility Genetics in Medicine. September 2017. DOI: 10.1038/gim.2017.123 [abstract]
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