Novel Mutations in Endometriosis-Associated Ovarian Cancers

ARID1A mutations were detected in 46% of clear-cell carcinomas and 30% of endometrioid carcinomas; its distribution in contiguous but not distal endometriotic tissue implicates ARID1A as a tumor-suppressor gene.

Although ovarian cancer is not the most prevalent of women's cancers, it is the most virulent because — in the absence of reliable screening tools to detect early lesions — the disease is usually diagnosed at a late stage. In a study of the molecular events involved in the transformation of endometriosis into two forms of ovarian cancer (clear-cell carcinoma and endometrioid carcinoma), investigators evaluated 18 ovarian clear-cell carcinomas and one cell line for the presence of somatic mutations in ARID1A (hypothesized to be a tumor-suppressor gene). ARID1A encodes BAF250a, a protein that is part of a chromatin remodeling complex that mobilizes nucleosomes, thereby influencing the accessibility of promoters to transcriptional activation o…

Reviewing Author

Susana M. Campos, MD, MPH