A woman got cancer five times and survived: she found a unique gene mutation

The woman developed 12 tumors before her 40th birthday. Seven of them were benign, and five were cancerous. Recently

Scientists have understood what led to the abnormal growth of formations in the woman’s body. She has a set of genetic mutations never before seen in humans.

The woman, now 36 years old, is carrying twomutant copies of the MAD1L1 gene, one from each parent. The result of the study was published in the journal Science Advances. The gene encodes a protein called MAD1, which plays a critical role in cell division.

When one cell divides into two, itfirst duplicates all of its DNA, and then packages the genetic material into special structures - chromosomes. They are then carefully lined up along the midline of the cell and pulled in half.

Thus, when a mother cell dividesin two, half of the DNA ends up in each daughter cell. According to UniProt, the MAD1 protein helps ensure proper chromosome alignment during this process. Therefore, all cells ultimately have the usual 23 pairs of chromosomes, a database of protein sequence and functional information.

When laboratory mice carry two mutant copiesMAD1L1, rodents die in the womb. However, in the case of the woman, she lived to adulthood. But throughout her entire life she was extremely susceptible to tumors. She developed her first cancerous tumor at the age of 2 years, and her last one at 28 years old.

“It was very difficult to understand how this woman couldto survive with such a mutation, co-author Marcos Malumbres, head of the cell division and oncology group at the Spanish National Cancer Research Center in Madrid, told Spanish newspaper El País. “There must be something else that helped her avoid death.” "

The analysis showed that between 30% and 40% of her circulating blood cells carried an abnormal number of chromosomes—either too many or too few.

Despite the fact that the woman has five timeshad cancer, the patient dealt with it relatively easily each time she developed the disease. And since her last tumor was removed in 2014, the patient has not developed another tumor. Researchers believe this may be due to her unique immune system.

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