Researchers at Peter Mac have uncovered potential new heredity genes that might be responsible for causing one of the most prevalent and deadliest forms of ovarian cancer. Their work is published in the journal npj Genomic Medicine.
High-grade serous ovarian cancer (HGSOC) is the most common type of epithelial ovarian cancer and is often diagnosed at an advanced stage, making treatment a challenge and the need for earlier detection critical.
Dr. Deepak Subramanian, a Postdoctoral researcher at Peter Mac, explained that almost half of the genetic risk in families with HGSOC remains unexplained.
“Around 40% of HGSOC has an inherited component and some of this is due to well-known genes like BRCA1 and BRCA2, for which testing is available,” he said.
“Our research set out to uncover new genes that might be responsible for causing familial HGSOC, as this information can help us better identify cancer risk and aid future research into targeted interventions.
“We were able to confirm that two previously suspected hereditary genes, PALB2 and ATM, are likely responsible for some hereditary HGSOC cases, and we also identified a new gene that may be linked with increased risk.”
Dr. Subramanian said they analyzed the DNA of people with HGSOC who did not carry BRCA1 or BRCA2 gene mutations to confirm if the gene changes identified in an earlier study were, in fact, heredity and potentially cancer-causing.
“To do this we examined the DNA of people with ovarian cancer and no known inherited cause and looked for telltale signs in the genetic code that implicated these genes in tumor development.
“This information can help us better understand one of our most challenging cancers and I hope it will help lead the way to new diagnostic tests and better classification of different ovarian cancer types for risk stratification and prevention.
“Our research also highlighted the importance of having strong engagement with our patients as this enabled us to combine many types of genetic and cancer tissue data to identify cancer risk accurately.”
It is estimated more than 1,200 Australians are diagnosed with ovarian cancer in 2023 and approximately 70% are classified as high-grade serous.
More information:
Deepak N. Subramanian et al, Assessment of candidate high-grade serous ovarian carcinoma predisposition genes through integrated germline and tumour sequencing, npj Genomic Medicine (2025). DOI: 10.1038/s41525-024-00447-3
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Unlocking new insights into hereditary ovarian cancer risk (2025, January 23)
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