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Ovarian cancer gene discovered

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A single genetic fault in a gene that normally helps the body to repair its DNA increases a woman’s risk of ovarian cancer six-fold, a study has found.

One in every 11 women who carry the faulty gene is likely to develop ovarian cancer at some point in her life compared with a typical risk of about one in 70 for women in the general population, scientists said.

Cancer Research UK, the cancer charity that funded the study, said that the landmark discovery by British scientists is the most important breakthrough in understanding the genetics of ovarian cancer for more than a decade.

The research involved analysing the genomes of more than 900 families affected by hereditary breast and ovarian cancer to see if they carry any genetic faults that could account for their higher risk of developing the disease compared with the general population. About 6,500 women in the UK are diagnosed with ovarian cancer each year – the fifth most common cancer – and the scientists estimated that between 40 and 50 of these women are likely to carry faults in a DNA-repair gene known as RAD51D.

Ovarian cancer

Ovarian cancer

It is known that RAD51D is one of a number of genes that is involved with repairing DNA when it is damaged by, for instance, chemicals in the environment. If RAD51D is itself damaged, then it cannot repair DNA mutations that can lead to the cell becoming cancerous.

“Women with a fault in RAD51D gene have a one in 11 chance of developing ovarian cancer. At this level of risk, women may wish to consider having their ovaries removed after having children to prevent ovarian cancer occurring,” said Professor Nazneen Rahman of the Institute of Cancer Research in London.

The study, published in the journal Nature Genetics, suggests that drugs known as Parp inhibitors which were originally designed to treat breast, ovarian and prostate cancers triggered by faults in another gene, called BRCA1, may also be effective against RAD51D faults.

“There is also real hope on the horizon that drugs specifically targeted to the gene will be available,” said Professor Rahman. Scientists hope to develop a test for the faulty gene which can be used to identify patients who would benefit from such drugs.


Harpal Kumar, chief executive of Cancer Research UK, said: “Survival from ovarian cancer has almost doubled in the last 30 years. This landmark discovery is another piece of the jigsaw deepening our understanding of the disease. We hope this will have a significant impact in providing more personalised treatments for patients based on their genetic make-up, saving more lives from ovarian cancer.”

Louise Bayne, chief executive of the ovarian cancer charity Ovacome, said: “This new discovery is greatly welcomed by the ovarian cancer community, as it helps to unravel a little more of the complicated ovarian cancer story and offers hope for better treatments in the future.”

Virus link to diabetes

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A common cold-like virus may be involved in the development of type 1 diabetes, researchers say.

Australian scientists found that people with diabetes are almost 10 times more likely to have been infected with a cold-like virus than those without the condition.

Enteroviruses are common, especially in infants and children. An infection can cause cold or flu symptoms, fever, muscle aches and rash. In severe cases an enterovirus infection can cause meningitis.

Past research has suggested a link between enteroviruses and type 1 diabetes, but the researchers say the findings have been contradictory. Type 1 diabetes often develops in childhood when cells in the pancreas stop producing insulin, making it impossible for the body to control insulin levels.

They analysed the results from 24 studies involving 4,448 participants, which looked at levels of protein and RNA from the virus in blood, stool and tissue samples. Most of the participants were children with and without diabetes or with pre-diabetes, a related condition.

Diabetes symptoms

Diabetes symptoms

The researchers, from the University of New South Wales and the Institute of Endocrinology and Diabetes in Sydney, found a strong association between enterovirus infection and type 1 diabetes, particularly in children.

Children with type 1 diabetes were almost 10 times more likely to have the enterovirus infection as other children.

And children with pre-diabetes were around three times more likely to have the infection than other children.

However, writing in the British Medical Journal, the researchers pointed out that this was an observational study, and does not prove that an enterovirus infection is the cause of type 1 diabetes.


Dr Iain Frame, director of research at Diabetes UK, said: “Many factors have been reported as being associated with Type 1 diabetes but that is not the same as causing Type 1 diabetes and this report based on looking at a number of previous studies does not bring us much closer to pinpointing the causes of Type 1 diabetes.”

“We do, however, welcome any new analysis that brings about a better understanding of the involvement of certain viruses on the insulin-producing cells in the pancreas.

“It may well give us another piece of the jigsaw in working towards a better understanding of the causes of Type 1 diabetes which should in turn lead to new prevention strategies.”