New Insights into FANCM Gene Mutations - European Medical Journal
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New Insights into FANCM Gene Mutations

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Hematology
2 Mins

GENETIC mutations in the FANCM gene were previously thought to be associated with development of Fanconi anaemia, a rare bone marrow disease. Now, following two recent studies, this assumption is beginning to be overturned, with recent data showing that mutations in the FANCM gene may instead put individuals at a higher risk of early-onset cancer.

Genetic mutations are the leading cause of cancer, a disease which carries an enormous health burden, with >1.6 million individuals in the USA diagnosed with the disease last year alone. Identifying which genetic mutations are the culprits for predisposition and development is essential for establishing new prevention, diagnostic, and treatment techniques. Previous studies have linked biallelic FANCM gene mutations to an increased cancer risk, particularly of breast cancer, as well as Fanconi anaemia. These new studies aimed to develop a better understanding of the FANCM mutations and the disease outcomes associated with them.

The first study, led by Dr Massimo Bogliolo, Center for Biomedical Network Research on Rare Diseases (CIBERER), Madrid, Spain, and the Universitat Aut, analysed cells with genomic sequencing and discovered that patients with FANCM gene mutations did not have any symptoms or characteristics associated with Fanconi anaemia. Instead, they found that the patients were at an increased risk of developing early-onset cancer, including leukaemia and head and neck cancer, as well as experiencing an increased toxicity to chemotherapy.

Similarly, the second study, led by Dr Javier Benítez, CIBERER, found that five women with the FANCM mutation were predisposed to developing breast cancer and experienced a higher toxicity to chemotherapy, but did not develop Fanconi anaemia. The researchers have advised close monitoring of this patient group and that extra precautions be put in place when treating them with chemotherapy. Studies and results like these are essential for the advancement in cancer knowledge and bettering patient treatment and care. “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,” concluded co-author Dr Jordi Surrallés, CIBERER.

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