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Researchers find genetic link between endometriosis and ovarian cancer

The condition can take an average of 7 years for women to be diagnosed.

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by MARGARET WANJIRU

Sasa04 April 2022 - 12:52
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In Summary


  • •The study found genes that could be drug targets to treat both endometriosis and epithelial ovarian cancer in the future.
  • •The condition can take an average of 7 years for women to be diagnosed, for some, it often goes undiagnosed.
A woman in pain

Valarie Atieno, 23, is has been living with endometriosis ever since she was 20 years. This came after she experienced very painful periods, something that had never happened before.

Ms Atieno said it got so bad that one night she woke up in very excruciating pain as if someone had ‘stabbed her’.

“No painkiller could help me handle the pain. My parents rushed me to the Emergency Room at a local hospital, but the doctors said everything was normal,” she told the Star on Monday.

“I used to cry like a little baby, and I actually almost gave up since after getting a third opinion, they said it is normal for every girl to experience that, but for sure, something was not right.”

It was later after a few clinic visits and scans that Atieno was diagnosed with endometriosis.

Endometriosis, is a condition in which tissue similar to the lining inside the uterus grows outside the uterus, mostly in women and girls who are in their reproductive years.

Fatigue, infertility, spotting or bleeding, abnormal periods, pelvic pain and painful cramping similar to menstrual cramps are the more common symptoms of the condition but they vary according to different people.

Others may also experience long term lower back and pelvic pain, bowel and urinary problems, blood in stool and pain during intercourse.

The condition can take an average of 7 years for women to be diagnosed, for some, it often goes undiagnosed.

According to the Endometriosis Foundation of Kenya, 74.5 per cent of people say that medical professionals do not believe in their pain.

Genetic link between Endometriosis and ovarian cancer

According to a new study from the University of Queensland, women who have genes that predispose them to endometriosis are also more likely to acquire ovarian cancer subtypes.

The research demonstrated that women who have an endometriosis-related genetic risk factor had 2.6 times increased lifetime chance of developing ovarian cancer.

Dr Sally Mortlock and Professor Grant Montgomery from UQ's Institute for Molecular Bioscience carried out a large genetic study to identify a genetic basis for this risk with a view to better understanding the biological overlap between these reproductive disorders.

"More information about how they develop, their associated risk factors, and the pathways shared between endometriosis and different types of ovarian cancer are needed," Dr Mortlock said.

The research found that individuals carrying certain specific genetic markers that predispose them to have endometriosis also have a risk of developing clear cell and endometrioid ovarian cancer subtypes.

Dr Mortlock said that although the diseases are genetically linked, the risk of ovarian cancer for those with endometriosis has not substantially increased.

Beacon of hope

The study found genes that could be drug targets to treat both endometriosis and epithelial ovarian cancer in the future.

"We explored specific areas of DNA that increase the risk of both diseases and identified genes in the ovary and uterus tissue that could be targeted for therapy and may be valuable to understand the link between the disorders and to disrupt biological pathways initiating cancer."

The researchers combined large datasets comparing the genomes of 15,000 people with endometriosis and 25,000 with ovarian cancer to find an overlap in risk factors between the two diseases.

Genes identified in this study will be investigated further to better understand their roles in disease development and progression.

Though there was also a slightly weaker relationship between Endometriosis and ovarian cancer, the research will help in better diagnosis and treatments, especially for ovarian cancer and endometriosis screening.

Their study was published in the Cell Reports Medicine.

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