A Woman Had Cancer 12 Times by Age 36. Her Genes Showed Something Never Seen Before

Spanish scientists decided to dig a little deeper into the case of a woman who had 12 different types of tumors before her 36th birthday, to find out why she was so vulnerable to cancer.

At the age of two, the woman was diagnosed with cancer. She was diagnosed at the age of fifteen.

The tumor was removed at the age of 20. She had another surgery to remove a sarcoma.

Several tumors were diagnosed as she went through her 20s and 30s.

She has had 12 tumors, five of which were malignant.

With the permission of the woman and her family, an international team of researchers, led by the Spanish National Cancer Research Center, took samples of blood and used single-cell DNA Sequencing to look at the genetics of thousands of individual cells.

A woman had a one-of-a-kind genetic abnormality that made her more prone to cancer.

The MAD1L1 gene is rare in humans.

A key piece of machinery that helps align chromosomes is the MAD1L1 gene. There is a suspicion that MAD1L1 is suppressing tumors.

Members of the woman's family carry a variation of the genes. This is the first time that both copies of the same genes have been found to have the same change.

It's surprising that a double MAD1L1 genemutation can be found in humans.

Cells with different numbers of chromosomes were created in this woman's lab. The majority of her blood cells had an abnormality.

The nucleus of our bodies has 23 pairs of chromosomes.

When a cell is about to undergo a process called cell replication, chymosomes are formed.

One of the two pairs of chromosomes come from the person's mother and the other from the person's father.

A mosaic of different colored tiles is what people with a rare condition called'mosaic variegated aneuploidy' have. The one seen in the woman with 12 cancer is one of several different genetics that can cause this condition.

Microcephaly, intellectual disability, and other congenital defects can be experienced by people born withMVA. They're more likely to be prone to cancer.

The woman had no intellectual disabilities and was living a normal life despite her cancer treatments.

Marcos Malumbres, the head of the Cell Division and Cancer Group at the Spanish National Cancer Research Center, says that they don't understand how this individual could have developed during the embryo stage.

Around 90 percent of tumors have extra or missing chromosomes and the role of aneuploidy is not understood in cancer.

Aneuploidy is associated with worse outcomes in cancer.

The study showed that people with aneuploidy have an enhanced immune response that could provide new opportunities for the clinical management of these patients.

The paper was published in a scientific journal.