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Published alongside the parallel New England Journal study, this exome sequencing project independently found ARID1A mutations in more than half of ovarian clear cell carcinomas, cementing the gene as the tumour's most common driver.
Exome sequencing of eight ovarian clear cell carcinomas followed by validation in 42 additional tumours, identifying ARID1A mutations in 57 percent along with PIK3CA, KRAS and PPP2R1A mutations.
Together with the Wiegand study, this defined clear cell ovarian cancer as a chromatin remodelling-driven disease distinct from high-grade serous cancer.
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