Unique genes allow women with frequent cancers to recover

It is helpful to research new methods of cancer diagnosis and treatment

Science and Technology Daily Beijing, November 7 (Reporter Liu Xia) A Spanish woman who is extremely susceptible to tumors has recently attracted attention
.
The woman had suffered from 12 different tumors, 5 of which were malignant, but "fully recovered" after treatment! In a research paper published in the latest issue of the journal Science Advances, scientists at Spain's National Cancer Research Center (CNIO) said they had discovered why the patient was so prone to cancer: she carried a set of genetic mutations
that humans had never seen before.
The researchers say this "exceptional" case could help improve early cancer diagnosis and develop new treatments
.

The researchers found that the 36-year-old woman carried two mutated copies of a gene called MAD1L1, one from her parents, which encodes MAD1
, a protein that plays a vital role in cell division.

Studies have shown that when the mice carry two mutant copies of MAD1L1, they die in utero, but the woman lived until adulthood but was highly susceptible to tumors
throughout her life.
She was first diagnosed with cancer at the age of two, the last at age 28, and was diagnosed with some type of tumor, distributed in different parts
of her body almost every few years.

In addition, researchers analyzing the patient's blood found that up to 40 percent of her blood cells had too many or too few chromosomes, a defect known as genetic instability that is a hallmark of cancer, and the patient's immune system responds to a widespread inflammatory response
to the threat.

Despite having suffered from multiple cancers, the woman was cured
relatively easily each time.
Since her last tumor was removed in 2014, it hasn't returned
.
Researchers believe this may be due to her unique immune system
.

CNIO biochemist Carolina Villaroa, lead author of the paper, explained that although the mutation caused the woman to develop cancer more frequently, her immune system was greatly stimulated, which was conducive to better recognition and destruction of tumor cells, "her genetic defect ultimately protected her
.
" After surgery and treatment, all her malignant tumors were cured"
.

The team hopes to further study the woman's immune defense system to see if it can be found
in other cancer patients.
They believe that boosting a patient's immune response will help stop tumors from getting worse, and the therapy will be similar to existing immunotherapies — designed to boost the immune system's ability to
target and kill cancer cells.