Woman diagnosed with 12 tumors in her lifetime has a never-before-seen genetic mutation

A woman had tumors before she was 40. She is prone to the abnormal growths because she carries a set of genes never seen before in humans.

The woman, now 36 years old, carries two copies of a gene called MAD1L1, one from each parent. A crucial role in cell division is fulfilled by the expression of the gene codes for MAD1

When a cell splits into two, the first thing it does is duplicate all of its genes and package them into chromosomes. When the mother cell splits in two, half of the chromosomes end up in each daughter cell. The chromosomes line up correctly during this process, so all cells end up with the usual 23 pairs of chromosomes, according to Uni Prot.

Two copies of MAD1L1 can be carried by lab mice. The woman has been susceptible to tumors throughout her life and has survived into adulthood.

Drugs trick cancer cells.

Marcos Malumbres, head of the Cell Division and Cancer Group at the Spanish National Cancer Research Center in Madrid, told the Spanish that it was difficult to understand how this woman could survive with this genetic abnormality. Malumbres said there had to be something else that helped her escape death.

About 30% to 40% of the patient's blood cells have an abnormal number of chromosomes, according to an analysis of the patient's blood.

People with different numbers of chromosomes can be caused by other genes. The risk of cancer is raised in some patients, but not all, according to the researchers. According to the National Cancer Institute, about 10% of tumors have extra or missing chromosomes, but scientists are still investigating how this genetic quirk contributes to cancer's growth and spread.

The patient was treated fairly each time she got cancer. The patient did not develop another tumor after her last one was removed. Her immune system is thought to be the reason for this.

The team found that the presence of cells with abnormal numbers of chromosomes caused a defense against the immune system. The immune system may be able to spot and destroy tumors when they arise by driving inflammation throughout the woman's body. The team theorizes that this may explain why the patient responded well to treatment.

Malumbres said in a statement that the production of altered cells has generated a chronic defensive response in the patient. The team wants to see if they could recreate the woman's immune defenses in other patients.

Malumbres said that boosting the immune response of other patients would help them to stop the growth of tumours. Similar to existing immunotherapies, such a treatment would increase the immune system's ability to target and kill cancer cells.