Major genetic study identifies 12 new genetic variants for ovarian cancer

A genetic trawl through the DNA of almost 100,000 people, including 17,000 patients with the most common type of ovarian cancer, has identified 12 new genetic variants that increase risk of developing the disease and confirmed the association of 18 of the previously published variants.

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Published this week in the journal Nature Genetics, the findings are the result of work by the OncoArray Consortium, a huge endeavour led by scientists in the UK, the USA and Australia. This particular study involved 418 researchers from almost 300 different departments worldwide.

According to Cancer Research UK, there were 7,378 new cases of ovarian cancer in the UK in 2014. Around nine out of ten of these cases was epithelial ovarian cancer. The peak rate of cases is among women aged 75-79 years old.

“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. “We’re less certain of environmental factors that increase our risk, but we do know that several factors reduce the risk of ovarian cancer, including taking the oral contraceptive pill, having your tubes tied and having children.”

Inherited faults in genes such as BRCA1 and BRCA2 account for about 40 per cent of the inherited component.  These faults are rare in the population (carried by about one in 300 people) and are associated with high lifetime risks of ovarian cancer – about 50 per cent for BRCA1 and 16 per cent for BRCA2 on average – as well as a high risk of breast cancer. Variants that are common in the population (carried by more than one in 100 people) are believed to account for most of the rest of the inherited component of risk.

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Image: Visualization of DNA sequence invented in 2015
Credit: Gregory Podgorniak


Reproduced courtesy of the University of Cambridge
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