This woman suffered from 12 cancers during her 36 years of life

A woman, when she had only two years, already had cancer. At 15, cervical cancer he was diagnosed. In the year of her 20th birthday, she underwent surgery because of a salivary gland tumor. This survivor had a turbulent life to say the least as she was diagnosed with a total of twelve tumorswhose five were malignant.

This woman had 12 cancers

At the initiative of the Spanish National Cancer Research Center, an international team decided to investigate this extremely rare case. With the consent of the patient and his relativesthe latter have analyzed genetic mutations inside thousands of individual cells found in samples of their blood.

Eventually, scientists discovered that them two copies of the MAD1L1 gene of the woman presented a mutation. It would be the first case never identified in humans. Regarding the study on this woman, the researchers published it in Science Advances.

His very birth is a mystery

Concretely, the MAD1L1 gene participates in thechromosome alignment before cell division. Furthermore, scientists think that this gene could play a role in tumor suppression.

In this 36-year-old woman, the origin of the mutation of this MAD1L1 gene is known. The fact is that his family members possessed a copy that had mutated. However, it is a great first to discover that both copies of this gene have this modification.

At the house of micefor example, this kind of mutation is lethal to embryos. This is why the case of this woman is particularly surprising. Moreover, Marcos Malumbres, molecular biologist and co-author in this study, expressed his dismay.

“We still don’t understand how this individual was able to develop during the embryonic stage or how he was able to overcome all these pathologies. ยป

Marcos Malumbres

A special case

Because of this mutation, the woman had cell replication dysfunction. This causes a creation of cells with an abnormal number of chromosomes.

It is a rare condition whose the name is “mosaic aneuploidy syndrome” (SAT). This disease affects different cells in the body and can occur as a result of different mutations. The one observed in this woman who had 12 cancers is one of them.

Usually, SAM causes various birth defects such as microcephaly and intellectual disability. Nevertheless, this is not the case with this woman who had a normal life if we omit the cancers. Somehow, she is one of a kind.



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