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Woman Survives Cancer 12 Times As A Genetic Defect Protected Her, Say Experts

The Spanish woman experienced twelve different types of tumours before the age of 40, and experts believe that her case can feed new hope for cancer research globally. 

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The news of a 36-year-old woman surviving twelve diverse forms of cancer has shaken the medical world across the world. Medical researchers in Spain are now working with all hands on deck in this case which, in hindsight, can serve as a huge contribution to cancer research and help improve early diagnosis. The investigation results, which were published recently, disclose that this unique case resulted from a genetic mutation that has never been observed or identified in humans.
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The Spanish woman experienced twelve different types of tumours before age 40, and experts believe that her case can feed new hope for cancer research globally.


Suggested reading: Breast Cancer Awareness Campaigns Overlook Metastatic Breast Cancer


Woman Survives Cancer 12 Times

Researchers Carolina Villarroya, Sandra Rodríguez, Marcos Malumbres and Miguel Urioste have worked on the investigation and submitted their study to a journal. The research, led by the Spanish National Cancer Research Centre, was to comprehend the reasons why this woman was susceptible to cancer so extensively. The study further brings out several significant factors that can help medical professionals and scientists across the world discover new traits and developments in cancer research. Revealing that the genetic mutation in the woman's case had never been observed before in humans, scientists highlighted that these findings can largely contribute to the early diagnosis of diverse cancer diseases.

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The women, whose identity has not been disclosed, had experienced twelve different forms of tumours starting from the age of two. She was first treated for cancer at the age of two. At 15, she fought cervical cancer. At 20, she had a salivary gland tumour removed followed by a low-grade sarcoma a year later. Of the twelve tumours she battled, five were malignant researchers noted. Till she reached her mid 30's she had health with diverse forms of cancer and, to the surprise of researchers, she survived all of them.

Single-cell DNA sequencing

The researchers at the cancer research centre took the woman's blood samples and worked their way into analysing the reasons behind her medical conditions. While her life history may surpass medical professionals across the world, researchers believe this can pave the way to identifying whether the human race is about to confront a new disease altogether and, if not, how we can make unique shifts in the already existing cancer developments.

The researchers used single-cell DNA sequencing for the study. This sequencing helps in recognising mutations in the genes extensively. While at it, the doctors discovered a strange kind of mutation in the woman in both copies of the gene called MAD1L1. It's strange, they noted, because this kind of mutation is so far unheard of in human beings.

Strangely and miraculously, researchers noted that the genetic instability of the woman that made her susceptible to cancer seemed to be the cause of her survival and ended up protecting her. Research stated that the woman's immune system is highly activated, which in turn works better for identifying tumour cells and further destroying cancer cells. 

In a significant remark, the study reveals that the woman who leads a normal working life has not developed any tumours since 2014. The researchers concluded their investigation by stating that the woman's enhanced immune system response can pave way for more efficient cancer diagnosis and aid in developing new treatments in the field.

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