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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Australia now has GenomeOne, the first organisation in the country to perform whole genome sequencing. So, how does genetic information from individuals contribute to the greater good?

Dr Heidi Rehm presented at Pathology Update in February on some projects helping to further scientists’ understanding of our genes.

In 2013, Dr Rehm convened a group to attempt to improve the process of finding the causes of rare diseases with a genetic component. Although genetic labs working with rare disease patients had databases containing genetic information, these were not joined up making it harder for clinicians and researchers to find other cases to compare to. This could help them find the genetic variation causing the disease.

Matchmaker Exchange was created to tackle this problem by creating a federated network of databases, where genetic information can be shared to help researchers and doctors treating people with rare genetic diseases.

The project is global, with data contributed via participating labs and collaborators all over the world.

Because the diseases are very rare, the process of identifying them is random, making it more difficult for researchers and clinicians to link up. They would have no way of knowing about other existing cases or when a new case will appear.

With another database called ClinVar, differences in interpreted variants between labs can be resolved making the classification of variants more accurate. This means more certainty for patients about whether they have a genetic variant that is pathogenic (disease-causing) or benign (not harmful).

Another project is the BRCA Challenge. This is run by the Global Alliance for Genomics and Health. It is designed to bring together resources to help experts classify variants in the BRCA genes, and clinicians access these interpretations with a user friendly website.

The purpose of the project is to enable better understanding of the genetic basis of cancers, such as breast cancer, where BRCA genes are a factor.

Classification is the process of evaluating evidence of new and existing gene mutations and determining whether or not they play a role in the disease. By pooling data researchers can classify gene variants that haven’t yet been classified. Advanced understanding of genetic variation in BRCA genes has the potential to improve diagnosis and prevention of disease.

There are some barriers to creating projects of this kind, said Dr Rehm; “Having enough resources to put the data together can be challenging and also the willingness of individual organisations to share their data can vary.”

Dr Rehm said no country is excluded from participating in Matchmaker Exchange, but certain geographic locations are less represented in the database; “Asia, Africa and South America have lower representation and this is for various reasons such as the number of people doing research in those areas and available resources.”

These projects and others like them offer great benefits to patients.

Dr Rehm said; “Thousands of patients are impacted every day. A greater understanding has allowed us to reclassify many genetic variants. For some patients that have been told they have a variant of uncertain significance, it may now be shown to be benign, which can provide great relief. There are also the patients whose cause of disease has been discovered as a result of this work. Every new discovery impacts at least one patient.”

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