Woman with cancer who had over a dozen tumors shows she has rare mutation - study

The discovery was made by an international team of researchers who took blood samples and used single-cell DNA sequencing to analyze genetic mutations.

 Cancer Immunotherapy by  NIH Image Gallery. (photo credit: FLICKR)
Cancer Immunotherapy by NIH Image Gallery.
(photo credit: FLICKR)

A woman diagnosed with cancer who has had over a dozen tumors in her life recently found that she has a mutation that is extremely rare in people.

The mutation is in the MADL1 gene, which made her more prone to cancer. The gene's usual function is to align chromosomes.

The discovery was made by an international team of researchers who took blood samples and used single-cell DNA sequencing to analyze genetic mutations. Their findings were published in Science Advances on Wednesday.

The woman suffered from all of the tumors before reaching the age of 36, the study said. She was first treated at age two and was continuing to be treated throughout her 20s and 30s.

What was this mutation doing to the woman?

The mutation was creating cells with different numbers of chromosomes. At least about 30% of her blood cells had an abnormal amount of chromosomes. People are usually supposed to have 23 pairs.

 A cell is seen undergoing mitosis, replicating its chromosomes as it divides (Illustrative). (credit: PIXABAY) A cell is seen undergoing mitosis, replicating its chromosomes as it divides (Illustrative). (credit: PIXABAY)

Molecular biologist and co-author of the study Marcos Malumbres said that he and the researchers "still don't understand how this individual could have developed during the embryonic stage, nor could have overcome all these pathologies."

"We still don't understand how this individual could have developed during the embryonic stage, nor could have overcome all these pathologies."

Marcos Malumbres