One of the aims of Ovarian Cancer Awareness Month is to educate Australians on the diagnosis and treatment of ovarian cancer. Pathology plays a huge role in this, especially in some of the most recent breakthroughs improving outcomes for women diagnosed with the disease.

Last month it was announced that the Peter MacCallum Cancer Centre in Melbourne is launching the Traceback program. The program will test 11,000 tissue samples from women diagnosed with ovarian cancer between 2001 and 2016 to see if they carry the BRCA gene mutations.[2]

The BRCA 1 and BRCA 2 genes produce tumour suppressor proteins, which play an important role in repairing damaged DNA. But specific mutations in these genes can stop them from being able to perform this role effectively and therefore cells are more likely to develop additional mutations which can lead to cancer.

Previous research indicates that approximately 15% to 20% of ovarian cancer patients carry a BRCA mutation, and the program leaders at the Peter MacCallum estimate they could discover as many as 1,500 women who have the mutation and don’t yet know.

By arming them with this knowledge the program is helping women to take any necessary preventative measures or to have regular testing or screening, to avoid another cancer in the future.

The program is important not just for the women themselves but for their families too; having a relative with a BRCA mutation raises a person’s risk of also having a gene mutation that could increase the likelihood of developing several types of cancer.

Approximately 44% of women with a BRCA1 mutation, and 16% of women with a BRCA2 mutation, will develop ovarian cancer by the age of 80. This is compared to 1.3% of the general population. The risk of breast cancer also increases for women with a BRCA mutation – around 70% of women with either mutation will develop breast cancer by 80. The mutations are also linked to increased risks of pancreatic cancer for men and women and prostate cancer for men.

The recent announcement from the Peter MacCallum is just the latest in a growing list of improvements to the accessibility of genetic testing for Australian patients.

Last year, for example, it was announced that the Medicare Benefits Schedule (MBS) would offer a rebate to women with breast or ovarian cancer who have the test. And if a mutation is found, their family members will also be eligible to have the test.

Cancers are most treatable when they are detected early, but this is often long before symptoms develop. Knowing about a genetic risk factor can save many lives – and that’s why more access to appropriate pathology testing is such a powerful weapon.

[1] https://ovarian-cancer.canceraustralia.gov.au/statistics

[2] http://www.abc.net.au/news/2018-02-06/ovarian-cancer-patients-tissue-samples-brca-mutation-test/9397470

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CA-125 is a protein that is found in greater concentration in tumor cells, particularly ovarian cancer cells, than in other cells of the body.

Every year approximately 1600 women are diagnosed with ovarian cancer in Australia. The 5 year survival rate is just 44% – that’s because there are often no obvious symptoms and so the cancer is only diagnosed once it has spread.

The study, published by the Oxford University Press, supports evidence that elevated CA-125 levels (more than 35 U/mL) have high specificity for detecting ovarian cancer in women who present to a GP with abdominal bloating, pelvic pain or urinary symptoms.

Researchers reviewed more than 2900 CA-125 tests ordered by GPs over one year and found that 8% were elevated and, of these, 11% of women had ovarian or peritoneal cancer. A further 11% had other serious pathology.

They suggest that these findings show that CA-125 is a useful diagnostic test, if it is followed up early and any changes are monitored over time.

The researchers did not, however, recommend that the CA-125 biomarker be used as a screening test for low-risk women with no symptoms due to the test’s poor sensitivity and the potential for over-investigation and subsequent distress for patients who do not have ovarian cancer.

Melbourne GP Professor Jon Emery, professor of primary care cancer research at the University of Melbourne, spoke to Australian Doctor and said the findings added to the existing evidence that CA-125 might be a useful biomarker but that Australian GPs had been slow to implement recommendations on its use.

The National Cancer Expert Reference Group released ovarian cancer Optimal Care Pathways in June 2016 to improve care for ovarian cancer patients in Australia. The group recommends CA-125 testing for women presenting to their GP with potential symptoms, alongside routine blood tests, pelvic ultrasound and CT scan if appropriate, but local awareness is poor.

“Many GPs are not yet aware of the Optimal Care Pathway, but there are various initiatives across the states beginning to raise awareness of them and implement them in general practice,” Professor Emery said.

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Letitia Linke was young and fit when she first felt a lump in her stomach and went along to her doctor for a check-up. At the time Letitia was 34 years old, and was otherwise feeling quite well after going on a health kick to lose weight and improve her fitness.

At first doctors thought the lump was a hernia and when an MRI scan showed lumps on her abdominal wall, doctors thought she had a severe case of endometriosis. Her other symptoms of lower back and abdominal pain were also consistent with this.

Letitia was referred to a gynaecologist for treatment and during surgery her fallopian tubes were removed and her ovaries were biopsied, which is the usual procedure for a serious case of endometriosis.

Two days later, Letitia’s gynaecologist phoned with shocking news, pathology testing of her tissue samples had confirmed that Letitia had ovarian cancer.

Following the diagnosis, Letitia underwent several operations to remove her uterus and a previously hidden tumour as well as radiotherapy and chemotherapy.

After first line chemotherapy and radiotherapy failed to give Letitia a remission, further pathology was undertaken in the form of “tumour profiling”. This identified that Letitia’s tumour was positive for estrogen and progesterone and resulted in the addition of hormone therapy to her treatment.

Some cancers will respond differently to treatments with certain classes of drugs, depending on the presence or absence of certain mutations (or molecular variants). Testing and treating tumours in this way is known as precision or personalised medicine.

Letitia’s story might sound surprising as ovarian cancer is more common in women over 50, but Letitia is keen to raise awareness that ovarian cancer can affect women of any age, as noted by Ovarian Cancer Australia.

Ovarian cancer tests, diagnosis and treatment

The symptoms of ovarian cancer can mirror those of many other conditions and like Letitia, many women will have minor symptoms that can be put down to another cause, or may have no symptoms at all.

Currently there is no screening test but genetic testing can help women to find out some risk factors. Variations in the BRCA group of genes are associated with an increased risk of breast, ovarian and bowel cancers. A blood test will determine if a woman has a BRCA gene mutation that places her at increased risk. This type of test would usually be offered to women who have breast, ovarian or bowel cancer in the family or if a family member has tested positive for a BRCA mutation.

CA125 tests are also used to monitor treatment and possible reoccurrence for women being treated for ovarian cancer. This test measures the CA125 protein which exists on the surface of ovarian cancer cells, as well as on some normal tissue. The level can help doctors decide if treatment is effective at tackling cancer, or if cancer has returned when a woman is being monitored after successful treatment.

The reason this test cannot be used for screening or diagnosis of ovarian cancer by itself is that the test is not black and white. The presence of CA125 is normal but the level requires careful interpretation and must also be viewed in context. High levels can be caused by factors other than cancer such as menstruation or ovarian cysts. Also, many women with ovarian cancer will not have raised CA125 levels. The only way to confirm a cancer diagnosis is with a biopsy examined by a pathologist.

Because of the difficulties with early diagnosis, many cases of ovarian cancer are first diagnosed when cancer is already in the later stages. This is why the five-year survival rate is around 44 per cent.

“I am now a passionate advocate for the Ovarian Cancer Research Foundation as an early detection test could save many lives. I am lucky to be alive but I have lost more than one friend to ovarian cancer, which can affect women at any age and often goes undetected for a long time,” said Letitia.

As the CEO of Abbott Pathology, Letitia’s mum Madelyn Duckmanton is also passionate about the role of pathology in helping her daughter and other women with cancer; “Pathology is a vital part of Letitia’s ongoing care. It helps her doctors to monitor her so we know as soon as possible if the cancer returns. Cancer is a terrible thing to deal with for any family but we hope that with advances in research, pathology will soon be able to do even more in the fight against ovarian cancer.”

Image: Marie Claire marieclaire.com.au

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A genetic test can be used to determine the best treatment for a disorder. For example, a genetic test of a person’s cancer can be used to identify those cancers which are likely to respond to a particular drug treatment.

On 1^st February 2017, a new genetic test will be added to the Medicare Benefits Schedule (MBS) that helps women with advanced ovarian cancer.

This test identifies women whose ovarian cancer is likely to respond to a chemotherapy drug called olaparib.

This new test accompanies the new listing of olaparib on the Pharmaceutical Benefits Scheme (PBS). Until now the drug has been largely inaccessible in Australia due to cost.

Both the new test and the new drug will become more readily available to Australians as they are now subsidised under Medicare for eligible patients.

The test examines the woman’s BRCA1 and BRCA2 genes. Women who have an inherited error in either gene are more likely to have a cancer which will respond to olaparib.

Dr Melody Caramins, an ambassador for Pathology Awareness Australia, was thrilled to hear of the upcoming addition to the MBS;

“This news will bring tremendous hope to women at an unbelievably stressful time in their life. Previously, the cost of the drug would have been prohibitive to many women, especially on top of their other out of pocket costs for investigations and monitoring.”

The drug is not proven to be effective for women without the BRCA gene mutation. Therefore it was only recommended as economically viable on the basis that a companion diagnostic test be made available that would determine if a woman was suitable or not. Dr Caramins said;

“By using BRCA testing before administering olaparib to the patient, doctors can avoid prescribing the drug to a woman who is unlikely to benefit from it, therefore saving them unnecessary treatment and side effects. Not to mention we avoid wasting healthcare dollars on ineffective treatment.

“By increasing the availability of these kinds of companion diagnostics we are opening up new channels of life-saving treatment for Australians. And that’s fantastic news all round.”

In patients who respond to treatment, olaparib can increase survival time almost threefold and improve quality of life for patients as it has less side effects than current treatments.

In addition to predicting the response to treatment, genetic testing can also be used to predict the risk of disease, including the risk among family members.

An application to add genetic testing for familial ovarian and breast cancer to the MBS has now cleared a major hurdle, with funding recommended by the Medical Services Advisory Committee (MSAC) of the Federal Department of Health. This recommendation is currently under consideration by the Minister of Health.

An inherited error in one of several genes, including BRCA1 and BRCA2, can place a woman at increased risk of developing breast and ovarian cancer. If a woman is affected by breast or ovarian cancer, a doctor can use her personal and family history to assess whether she is likely to have such a mutation and recommend that she be tested. If approved by the Minister, the cost of testing would be covered by Medicare.

For the affected woman, the identification of a mutation would place her at increased risk of developing breast or ovarian cancer a second time, and she can take specific precautions to reduce the risk of this occurring.

For the woman’s relatives, the impact is even greater. When a mutation is found, family members can have testing to clarify their own risk of developing breast and ovarian cancer – and of passing the same mutation on to their children. Female relatives with a mutation can take specific precautions to reduce the chance of a serious cancer diagnosis, while those who have not inherited the mutation can be spared unnecessary screening and anxiety.

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The trial could be the first step towards routine screening for all women to assist in earlier diagnosis and increased life expectancy for cancer patients.

The hospital have already completed a pilot study, screening 2,000 women. The study showed that for every 100 women tested one new carrier of genetic mutations was uncovered. The head of the Cancer Genetics Laboratory, Professor Ian Campbell explained;

“For every one person you detect with the screening, you would automatically identify another three to five mutation carriers as you extend the screening among their family.”

And furthermore, Prof Campbell explained that the screening was seen positively by the participants;

“They were upset that they were carriers, but ultimately they were all happy that it had been detected and hopeful that they can head off getting the cancer.”

The pilot looked at two gene mutations – in the BRCA1 and BRCA2 genes. Previous studies have shown that these mutations increase a woman’s risk of breast cancer and ovarian cancer by 85% and 65% respectively.

Currently a woman is only screened for the mutations after she or someone in her family is diagnosed. However, around half of those with one of the mutations don’t have a family history.

This kind of population based screening could have the potential to catch individual cancer cases earlier through increased screening or prevent them through risk reduction (e.g. women opting to undergo preventative mastectomies).

The new $1 million study funded by the National Health and Medical Research Council starting next month will screen participants from Lifepool, a database of 53,000 women.

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