A 36-year-old woman who has had 12 tumors of different types of cancer in her lifetime has been found to have a rare genetic mutation. The study by an international team of researchers from the National Cancer Research Center in Spain was published in the journal Science Advances.
Interested in the unusual case, the scientists took blood samples from the woman and used sequencing to study the genome. As a result, the specialists found a previously unknown mutation in the MAD1L1 gene, which is involved in tumor suppression.
In addition, the MAD1L1 gene helps ensure that chromosomes line up correctly in cells - in a healthy person, each cell usually has 23 pairs of chromosomes. However, in the woman, the number of chromosomes in each cell was different. Scientists speculate that this is why the tumors were rejected each time by the patient's body, which allowed the woman to beat her cancer.
It is also interesting that experiments on murine models showed that this mutation led to the death of the carrier rodent. In the future, researchers plan to study the mysterious mutation in more detail in order to use it as a cancer therapy.