Scientists in Cambridge have identified 12 new genetic variants that increase the risk of developing ovarian cancer, and confirmed the association of 18 of the previously published variants. There are now known to be 30 risk variants, accounting for 6.5 per cent of the inherited component of risk. The findings, published on March 27, are a product of research carried out by the OncoArray Consortium, an effort led by scientists in the UK, USA and Australia. This particular study involved 418 researchers from almost 300 departments worldwide.
“We know that a woman’s genetic make-up accounts for about one third of her risk of developing ovarian cancer. This is the inherited component of disease risk,” explains Professor Paul Pharoah from the University of Cambridge, UK, one of the joint leads. Inherited gene faults in the BRCA1 and BRCA2 genes, in particular, are associated with high risks of ovarian cancer, with about 50 per cent of BRCA1 and 16 per cent of BRCA2 gene faults coinciding with patients having the disease, although these facts are rare in the population, being carried by about one in 300 people.
In this study, researchers studied the genomes of over 25,000 people with epithelial ovarian cancer and 31,000 BRCA1 and BRCA2 mutation carriers, of which almost 4,000 were epithelial ovarian cancer patients. This enabled them to identify a further 12 variants associated with risk and confirm the association of 18 of the previously published variants; some of the other variants failed to replicate. In total, there are now known to be 30 risk variants, accounting for 6.5 per cent of the inherited component of risk, Cambridge News reports. These findings pave the way to identifying preventive and preemptive measures of ovarian cancer.
“In some ways, the hard work starts now,” says Dr Simon Gayther from Cedars-Sinai Medical Center, Los Angeles, USA. “We really have little idea of the functional effect these variants have at the molecular or cellular level and so there are few clues as to how they might affect risk. If we can understand how they work, we will be in a better position to treat – and possibly prevent – ovarian cancer.”