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This study found that about half of ovarian clear cell carcinomas and a third of endometrioid carcinomas carry inactivating mutations in ARID1A, a chromatin remodelling gene, linking these endometriosis-associated cancers to a common driver.
Sequencing study identifying truncating ARID1A mutations in 46 percent of ovarian clear cell carcinomas and 30 percent of endometrioid carcinomas but not in high-grade serous carcinoma, with loss of the BAF250a protein in mutated tumours and evidence of the mutation in adjacent endometriosis.
ARID1A loss defines the biology of clear cell ovarian cancer and is the target of current trials of synthetic-lethal drugs such as ATR and EZH2 inhibitors.
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