Researchers have uncovered new heredity genes that may contribute to an increased risk of developing high-grade serous ovarian cancer, according to a recent study published by Subramanian et al in npj Genomic Medicine.
Background
High-grade serous ovarian cancer is one of the most prevalent and deadliest types of epithelial ovarian cancers and is often diagnosed at an advanced stage—making treatment challenging and the need for earlier detection critical.
Nearly 50% of the genetic risk in families with high-grade serous ovarian cancer remains unexplained.
“Around 40% of [high-grade serous ovarian cancer] has an inherited component, and some of this is [resultant from] well-known genes like BRCA1 and BRCA2, for which testing is available,” explained lead study author Deepak Subramanian, PhD, a postdoctoral researcher at the Peter MacCallum Cancer Centre in Melbourne. “Our research set out to uncover new genes that might be responsible for causing familial [high-grade serous ovarian cancer], as this information can help us better identify cancer risk and aid future research into targeted interventions.”
Study Methods and Results
Researchers analyzed the DNA of patients with high-grade serous ovarian cancer without BRCA1 or BRCA2 mutations. They sought to confirm if the gene changes identified in prior research were hereditary and potentially oncogenic.
“We were able to confirm that two previously suspected hereditary genes, PALB2 and ATM, are likely responsible for some hereditary [high-grade serous ovarian cancer] cases, and we also identified a new gene, [LLGL2], that may be linked with increased risk,” Dr. Subramanian indicated.
Conclusions
“This information can help us better understand one of our most challenging cancers, and [we] 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 underscored. “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.”
Disclosure: For full disclosures of the study authors, visit nature.com.
