A remarkable combination of genetic mutations in “exceptional survivors” of ovarian cancer could explain how these women outlived their deadly diagnosis for more than a decade, against all odds.
Researchers led by teams at Peter MacCallum Cancer Centre and the University of Sydney analysed the genomic and immune markers among Australian and US women who had survived ovarian cancer for more than 10 years in the hope of finding clues to discovering effective treatments for other women with the most deadly and common form of the disease: high-grade serous ovarian cancer (HGSC).
Almost 60 per cent of patients diagnosed with advanced HGSC die within five years of being diagnosed. Just 15 per cent survive more than 10 years.
”We’re very interested in these unusual patients – these exceptional ovarian cancer survivors – who very happily managed to survive more than 10 years and how they managed to pull off something that we haven’t had an explanation for, until now,” said Professor David Bowtell, senior author of the study published in Nature Genetics and group leader at Peter Mac.
The researchers compared whole genome sequencing of tumour tissue, as well as clinical history and immune markers from these 60 exceptional cancer survivors with 34 short-term survivors who had survived two years, and 32 intermediate survivors who had lived between five and eight years after diagnosis.
They found the combination of BRCA1 or BRCA2 mutations and the loss of a gene called RB1 was strongly associated with long-term survival, a surprising finding, considering the loss of RB1 is usually associated with very poor outcomes, Bowtell said.
