Researchers, from the Cancer Research UK Genetic Epidemiology Unit at the University of Cambridge and University College London, who uncovered the genetic defect, found that the imperfection could increase the risk of developing cancer
by as much as 40 percent in a lifetime.
The SNP factor
For the purpose of the study, researchers examined the genomes of 1,810 British women who were suffering from ovarian cancer and 2,535 women who did not have this underlying medical condition.
Out of the 23 pairs of chromosome that human beings have, a variant version of chromosome nine increases the risk of the cancer. This DNA variation is called a single nucleotide polymorphism (SNP).
If both copies of this chromosome are flawed, the lifetime risk of developing cancer is 14 in 1,000. On the other hand, women carrying one copy of the mutation have a lifetime risk of 12 in 1,000.
In case the alteration is not present, 10 in 1,000 women run the risk of developing the ovarian cancer, found the study.
New hope
Ovarian cancer is not easily detected when it is in its earliest stages. At that time, it is most curable. Therefore, any information that helps doctors and women alike, to know if they are at an enhanced risk of contacting the disease is helpful.
Dr. Simon Gayther, lead author of the study said, “There is now a genuine hope that as we find more, we can start to identify the women at greatest risk and this could help doctors to diagnose the disease earlier when treatment has a better chance of being successful.”
Dr. Lesley Walker, director of cancer information at Cancer Research UK said of the findings, “This is an important discovery. Our researchers have worked as part of a huge collaboration to establish the regions of DNA that can increase someone's risk of developing ovarian cancer.”
"This research paves the way for scientists to discover even more genes linked to ovarian cancer and could lead to new approaches to treat or prevent the disease - crucially it will help doctors manage women who are at increased risk," added Walker.
The findings of the study have been published in the journal Nature Genetics.
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