Scientists have said that some genetic mutations believed to be associated with a rare bone marrow disease could favor the onset of cancer in individuals, two new studies suggest.
The research indicated that mutations in the FANCM gene are not – contrary to current understanding – related to Fanconi anemia, which is an inherited bone marrow disease.
However, the researchers who led the study, have informed the scientific community that genetic mutations of the FANCM gene may be associated with the early development of cancer in many people as well as with chemotherapy toxicity.
Cancer is one of the leading causes of death in the world, and about 1.6 million people have this disease in the United States alone. and most of these cases were recently diagnosed.
Genetic mutations are a major cause of cancer in people’s bodies. these genetic mutations could disrupt normal processes that control cell growth, causing cells to grow out of control and form tumors.
Identifying genetic mutations are very important within strategies to fight cancer. Therefore, identifying all those gene mutations suspected of causing cancer is crucial to creating strategies to prevent, diagnose, and treat cancer. And now, thanks to these studies, researchers may have added another candidate to the list: FANCM.
Understand FANCM mutations. An important element
According to the results obtained by the researchers, the FANCM gene could be related to the development of Fanconi anemia, after 2005 the research identified mutations of the FANCM gene, which have been known as biallelic mutations.
Previous studies on this type of mutation have indicated that these mutations also cause DNA errors that would increase susceptibility to cancer, particularly breast cancer. Scientists have gained a better understanding of disease outcomes caused by FANCM mutations.
The first study was directed by Massimo Bogliolo, from the Center for Research on Biomedical Networks on Rare Diseases (CIBERER) and the Universitat Autònoma de Barcelona in Spain.
The researchers who developed the researchers have used the technique of genomic sequencing to analyze cells obtained from some patients who had mutations in the FANCM gene in their cells. In addition, it was found that patients with mutations in the FANCM gene had no known characteristic that could be related to Fanconi anemia, such as congenital malformations or hematological abnormalities.
However, the study allowed scientists to know that these patients showed a predisposition for early-onset cancer; ie leukemia and head and neck cancer. Moreover, these patients experienced high toxicity in response to chemotherapy.
The authors say that their findings indicate that “Mutations of loss of function in FANCM cause a clinically distinct predisposition syndrome to cancer of FA in good faith [Fanconi’s anemia].”
Mutations of FANCM and breast cancer. Other study results
The second study, led by Javier Benítez, also of CIBERER, included five women with biallelic mutations in the FANCM gene.
The results obtained in this second study, have supported the results of the first study, scientists have found that while women who possessed a mutation in the FANCM gene did not develop Fanconi anemia, they demonstrated a high risk of breast cancer and toxicity to chemotherapy.
Both teams of scientists have said that the two studies, let them know that biallelic mutations in the FANCM gene cause a type of predisposition to cancer, rather than Fanconi’s anemia.
“So far biallelic mutations in the FANCM gene have been thought to cause Fanconi anemia, but now we have shown that it is not since in the two studies there were eight patients with these mutations and none of them had anemia.” said the researcher Jordi Surrallés
As a general recommendation, researchers have recommended to all scientific community that patients with this type of mutation should have close medical monitoring, given their greater susceptibility to cancer. In addition, caution should be exercised when treating these patients with chemotherapy, as it could have toxic effects.