Scientists have identified a genetic variation that may increase the lifetime risk of ovarian cancer, according to a study published today in the journal Nature Genetics.
The DNA variation, called a single nucleotide polymorphism, is located on chromosome nine. Women carrying the gene variation on both copies of chromosome nine have a lifetime risk of ovarian cancer of 14 in 1,000 compared with 10 in 1,000 among women who do not have the mutation. Women carrying one copy of the mutation have a lifetime risk of 12 in 1,000.
The mutation was discovered by researchers at the Cancer Research UK Genetic Epidemiology Unit at the University of Cambridge and University College London. They sequenced the genomes of 1,810 women with ovarian cancer and 2,535 women without the disease to find the mutation. About 15% of the women in the UK population carry two copies of the variant DNA.
Ovarian cancer is difficult to detect in its earliest stages, when it is most curable. Therefore doctors would like to have information to help women know if they are at higher-than-average risk of the disease. Some factors, such as age of first pregnancy and family history, can be used to assess risk. And women who have the BRCA1 and BRCA2 gene mutations are known to be at higher risk. Identification of other gene mutations linked to ovarian cancer is expected.
"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," said the lead author of the paper, Dr. Simon Gayther, in a news release.
-- Shari Roan
Photo credit: National Institutes of Health