Gene links to ovarian cancer and diagnostic delays

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According to the latest research a group of genes may help predict a woman's risk of developing ovarian cancer. Studies have also shown that breast and ovarian cancer may share some of the same genetic risk factors.

Ovarian cancer is the fifth most common cancer among women in developed countries and often goes undetected until it is in an advanced stage. It kills more women than any other cancer because of this.

DNA & gene variations

Andrew Berchuck, Professor of gynecologic oncology at Duke University Medical Center, who was part of the research said, “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….It also suggests that preventive approaches could be targeted towards these women.”

The two different studies included nearly 11,000 women with ovarian cancer. Researchers identified genetic variants in five DNA regions (chromosomes 2, 3, 8, 17, and 19) of the genome that affect the risk of ovarian cancer. Four out of the five genetic variations were more common in women who had the most aggressive form of ovarian cancer. The results of the study were published in Nature Genetics.

Ellen Goode, a genetic epidemiologist at the Mayo Clinic College of Medicine explained that there are some gene variants that have already been implicated in other types of cancer. She said, “Common genetic ‘typos’ at 8q24 have already been shown to render some people vulnerable to prostate, colorectal, breast and bladder cancers, so it’s not too surprising that there may be something there related to ovarian cancer…What is surprising is that we found that three of the most common [genetic variations] for ovarian cancer lie quite a distance away from this bunch of troublemakers - in an apparent gene desert - which suggests they may be causing functional problems by a very different mechanism.”

Gene link

Speaking on the genetic link between breast and ovarian cancer Simon Gayther, Professor of preventive medicine at the University of Southern California, said, “This is important because it suggests that women who carry certain versions of this stretch of DNA could benefit from closer monitoring for both breast and ovarian cancers.”

Ovarian cancer in Australian women

In a different study including nearly 1,400 Australian women who have ovarian cancer it was shown that 85 per cent had visited three or fewer doctors before they were correctly diagnosed. For 66 per cent of the women, their cancer was diagnosed within one month of their first related trip to a doctor and 80 per cent were diagnosed within three months. Speculations that diagnosis of the cancer was delayed in Australia were thus unfounded. However, the study found that for 12 per cent of the women their diagnosis took longer than six months.

Dr Susan Jordan, from the School of Population Health at the University of Queensland said, “To our knowledge, this is the first study to describe in detail the diagnostic pathways experienced by women with ovarian cancer in Australia…Anecdotally, there is a perception that the journey from first presentation to diagnosis is often long and circuitous for women with ovarian cancer... Our study provides reassurance that, despite anecdotal evidence to the contrary, most women with ovarian cancer in Australia are diagnosed promptly once they present to a medical practitioner.”

She explained the 12% who experienced delay by saying that this was more likely for women who were living in remote Australia, those with lower incomes and those presenting with abdominal pain or bowel symptoms, or multiple symptoms. “Further studies addressing these factors, especially lack of access to care, are warranted,” she said.

The study was published in the Medical Journal of Australia.

Dr. Ananya Mandal

Written by

Dr. Ananya Mandal

Dr. Ananya Mandal is a doctor by profession, lecturer by vocation and a medical writer by passion. She specialized in Clinical Pharmacology after her bachelor's (MBBS). For her, health communication is not just writing complicated reviews for professionals but making medical knowledge understandable and available to the general public as well.

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