New genes linked to ovarian cancer
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Scientists have found new hereditary genes linked to aggressive ovarian cancer.
Researchers at Melbourne’s Peter MacCallum Cancer Centre have made significant progress in understanding hereditary risks associated with high-grade serous ovarian cancer (HGSOC), one of the most prevalent and deadliest forms of ovarian cancer.
Their study reveals new insights into the genetic factors underlying familial ovarian cancer, which could lead to better diagnostic tools and preventative strategies.
HGSOC accounts for approximately 70 per cent of ovarian cancer diagnoses in Australia, with over 1,200 new cases recorded annually.
This form of cancer is often detected at an advanced stage, posing challenges for effective treatment.
Around 40 per cent of HGSOC cases have a hereditary component, with established genetic markers like BRCA1 and BRCA2 only accounting for about half of these.
This leaves substantial gaps in understanding familial risks.
“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,” says Dr Deepak Subramanian, a researcher at Peter Mac.
The study confirmed the role of two suspected genes, PALB2 and ATM, in HGSOC predisposition, and identified a new gene, LLGL2, as a potential risk factor.
The discovery of LLGL2 is particularly significant, as it is associated with biallelic inactivation, a pattern observed in established cancer-related genes.
Functional studies suggest LLGL2 may influence cell division and migration, shedding light on how it might contribute to tumour development.
The research team conducted integrated germline and tumour sequencing analyses to validate these findings.
This method examined the DNA of patients who did not carry BRCA1 or BRCA2 mutations, identifying genetic changes implicated in tumour formation.
“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,” Dr Subramanian said.
The full study is accessible here.
