Gene variation linked to 'silent killer' of women

Scientists have pinpointed five genetic variations which can affect a woman's risk of ovarian cancer.

Often called the silent killer because it's usually diagnosed in the late stages when it is most difficult to treat, ovarian cancer causes more deaths than all the other gynaecological cancers put together.

Each year in the UK, more than 6,500 women are diagnosed with the disease, and over 4,000 die from it.

Scientists from the US, Europe, Canada and Australia compared the genetic material of 10,283 women with ovarian cancer to that of 13,185 women without the disease.

They identified five stretches of DNA on chromosomes 2, 3, 8, 17 and 19 which were associated with an increased risk of ovarian cancer. Four out of the five new DNA variations were more common in women with serous ovarian cancer, the most common and most aggressive form of the disease.

It's already known that DNA mutations in the BRCA1 and BRCA2 genes can dramatically increase a woman's chances of developing breast and ovarian cancer, but these genetic mutations are only responsible for a small percentage of all ovarian cancers.

As the newly identified DNA variations in the study are much more common in the population than those found in the BRCA1 and BRCA2 genes, this means they are probably behind a much greater proportion of ovarian cancers, although the overall risk of developing cancer would still be much lower.

Two further studies also found a region of DNA on chromosome 19, which increases a woman's risk of disease, one of which also increased the risk of breast cancer in women who already carried a faulty version of the BRAC1 gene, found on chromosome 17.

"These latest findings raise the possibility that in the future, women in the general population who are at the greatest risk of developing ovarian cancer because they carry these newly discovered DNA variants can be identified and given closer surveillance to look for early signs of ovarian cancer when it is most treatable," said study leader Andrew Berchuck, professor of gynaecologic oncology at Duke University Medical Centre.

"It also suggests that preventive approaches could be targeted towards these women," he added.

The three studies were published yesterday in the journal Nature Genetics.

This article was published on Mon 20 September 2010