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Woman (36) with ‘one in 8 billion’ genes survives TWELVE tumors may hold key to cancer

Woman (36) with ‘one in 8 billion’ genes survives TWELVE tumors may hold key to cancer

A woman who survived a dozen different tumors could be hiding the secret of curing cancer, according to scientists.

The unnamed patient, 36, was diagnosed with her first mass when she was a toddler and since then a new growth has formed on different parts of her body every few years.

Of her 12 tumors known to doctors, at least five were cancerous – forming in her brain, cervix and colon.

Researchers at Spain who monitor her condition say her immune system is “exceptional” in stopping the cancer.

She is believed to be the only person in the world with a genetic quirk that serves as a double-edged sword.

On the one hand, she has an unnatural ability that can defeat cancerous growths. but on the other hand, it makes them extremely susceptible to the formation of tumors.

She has two mutations in the MAD1L1 gene, which under normal circumstances should kill the embryo before it gets a chance to develop in the womb.

The gene is crucial in the process of cell division and proliferation, and mutations cause it to break down and start replicating excessively.

When a cell begins to divide at a rate that is not necessary, it can lead to tumor growth that can often turn into cancer.

Dr Marcus Malumbres, head of the cancer group at the Spanish National Cancer Research Center (CNIO), said: ‘We still do not understand how this person could have developed during the embryonic stage, nor could he have overcome all these pathologies.’

The woman, 36, has a rare mutation that causes her cells to multiply rapidly. As a result, she had a dozen tumors throughout her life. The same mutation that causes the growth also protects her from it, as it causes the rapid production of defense cells. (file photo)

A woman was examined at the CNIO Cancer Research Center in Madrid, Spain (pictured)

A woman was examined at the CNIO Cancer Research Center in Madrid, Spain (pictured)

How a rare mutation makes a woman more vulnerable to cancer – while also allowing her to fight it

A 36-year-old woman who was examined by doctors in Spain developed a dozen tumors – at least five of which were cancerous.

She has a rare pair of mutations in her MAD1L1 genes that would normally lead to death in the embryo.

The gene is responsible for cell division and proliferation. Its mutations will affect how a person’s cells replicate.

As a result of these mutations, a woman is more likely to suffer unnecessary tissue growth, which can lead to the formation of tumors.

These tumors can often be cancerous, as this woman has experienced her entire life – with the first mass discovered when she was just a toddler.

It is interesting that the same mutation that caused her to fall ill with that disease so often saves her from it.

Her body produces lymphocytes at a rapid rate, and identical copies of the immune cells come with mutations that make them highly effective in fighting cancer.

Each of her lymphocytes has an abnormal number of chromosomes, which makes them more effective against tumor growth.

As a result, her body also fights cancer and tumors with ease.

A team from the CNIO in Madrid released its report on the man’s case on Wednesday.

Scientists have discovered that a woman is more likely to develop tumors and cancer due to mutations in the MAD1L1 gene. Her condition is so rare that it doesn’t have a name.

The person also has skin spots, microcephaly – a condition where the baby’s head is much smaller than expected – and other physical conditions.

When the patient first visited the Clinical Unit for Family Cancer of the CNIO, a blood sample was taken to sequence the genes most commonly involved in hereditary cancer, but no changes were detected.

The researchers then analyzed the woman’s entire genome and found mutations in a gene called MAD1L1.

This gene is necessary in the process of cell division and proliferation.

The researchers analyzed the effects of the mutations and concluded that they cause changes in the number of chromosomes in cells – all cells in the human body – have 23 pairs of chromosomes.

Animal models suggest that when there are mutations in both copies of this gene – each coming from one parent – ​​the embryo dies.

To the researchers’ astonishment, the person in this case had mutations in both copies, but survived, living a normal life as would be expected of someone suffering from poor health.

According to Miguel Urioste, co-author of the study who headed the Clinical Unit for Familial Cancer of the CNIO until his retirement in January this year, said that no other case like this has ever been described.

He said: ‘Academically we can’t talk about a new syndrome because it’s a single case description, but biologically it is.’

While other genes whose mutations change the number of chromosomes in cells are known, the researchers say this case is different because of the aggressiveness, the percentage of aberrations it produces and the extreme susceptibility to a large number of different tumors.

The search team was intrigued by the fact that the five aggressive cancers developed by the patient disappeared relatively easily.

Their hypothesis is that ‘the constant production of the altered cells generated a chronic defense response in the patient against these cells, and this helps the tumors to disappear’.

“We think that strengthening the immune response of other patients would help them stop the development of tumors,” explained Dr. Malumbres.

The researchers say one of the most important aspects of the study is the discovery that the immune system is capable of unleashing a defensive response against cells with the wrong number of chromosomes.

The findings could open up new therapeutic options in the future, they suggest.

The study was published in the journal Science Advances.



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