A woman had cancer 12 times by the age of 36: scientists discovered something in her genes that had not been seen before
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For the first time, a resident of Spain was treated for cancer at age 2, and after that she was diagnosed with 11 more tumors. Scientists do not understand how a woman lived normally to 36.
A group of scientists from the Spanish National Cancer Research Center encountered an unusual case in their practice. A 36-year-old resident of Spain has already had cancer 12 times in her short life, and these were completely different types of tumors. As a result of a thorough study, scientists have found out why a young woman has such a predisposition to cancer, writes ScienceAlert.
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For the first time, a young Spaniard was treated for cancer at the age of 2, then at 15 she was diagnosed with cervical cancer, after 5 years she had a tumor of the salivary glands removed, at 21 she underwent surgery to remove a sarcoma. Until the age of 30, she underwent 8 more operations to remove different types of tumors. Moreover, 5 of them were malignant.
A unique mutation
Scientists decided to carefully study a unique case that may have become a reality due to genetic mutations. The result was incredible: a 36-year-old Spanish woman was found to have a one-of-a-kind mutation that made her more prone to developing cancer.
Scientists have found a mutation in the woman in both copies of the MAD1L1 gene, and this has never been seen before. This gene in the human body is responsible for a key mechanism that helps align the chromosomes before the cell begins to divide.
This mutation is fatal
A mutation in one copy of the gene was found in the woman's relatives, but for the first time scientists have found such a mutation in both copies of the gene. It is known that such a double mutation of the MAD1L1 gene is fatal for mouse embryos, and therefore, according to scientists, this is an amazing discovery. It turned out that this mutation caused dysfunction in cell division, resulting in cells with a different number of chromosomes. Approximately 30% of the Spaniard's blood cells had an abnormal number of chromosomes.
As you know, each person has 23 pairs of chromosomes inside each cell. These structures, which are X-shaped, contain sets of DNA and are formed when the cell is about to divide. In each pair of chromosomes, one carries the hereditary information of the mother of a person, and the second – of the father.
A rare genetic disease
But there is a very rare genetic disorder called “mosaic variegated aneuploidy”. With such a disease, different human cells have a different number of chromosomes and this resembles a motley mosaic. Such a disease can be caused by various genetic mutations, including the one found in a 36-year-old woman.
According to scientists, people suffering from this disease often have developmental delays, they may be a disproportionately small head, mental development problems and other birth defects are also seen. And these people are very predisposed to developing different types of cancer.
How did she survive?
It turned out that the woman also suffers from this disease, but special health problems (of course, if not count 12 tumors) and she did not have mental development.
“We still do not understand how this woman was able to grow and develop, as well as how she overcame all known pathologies,” says Marcos Malumbres from the Spanish National Center for Cancer Research.
Scientists have concluded that despite everything, this woman has a very strong immune response that helped her survive all 12 types of cancer.
As already wrote Focus, scientists have found a way to stop the spread of metastases throughout the human body.