key papersKey paper
Frequent mutations of the chromatin remodelling gene ARID1A in ovarian clear cell carcinoma
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.
Overview
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.
Translational studyChanged practice
Authors
Jones S, Wang TL, Shih IeM, et al.
Published
Science, 2010
Findings
- ARID1A mutations in 57 percent of ovarian clear cell carcinomas.
- PPP2R1A mutations identified as a novel recurrent alteration.
What it means
Together with the Wiegand study, this defined clear cell ovarian cancer as a chromatin remodelling-driven disease distinct from high-grade serous cancer.
Caveats
- Small discovery cohort.