ARID1A Mutations in Endometriosis-Associated Ovarian Carcinomas

We have sequenced the whole transcriptomes of 18 ovarian clear-cell carcinomas and 1 ovarian clear-cell carcinoma cell line and found somatic mutations in ARID1A (the AT-rich interactive domain 1A [SWI-like] gene) in 6 of the samples. ARID1A encodes BAF250a, a key component of the SWI–SNF chromatin remodeling complex. We sequenced ARID1A in an additional 210 ovarian carcinomas and a second ovarian clear-cell carcinoma cell line and measured BAF250a expression by means of immunohistochemical analysis in an additional 455 ovarian carcinomasEGA study EGAS00000000075

我们对18例卵巢透明细胞癌组织及1株卵巢透明细胞癌细胞系的全转录组进行了测序，在其中6份样本中检测到ARID1A（AT富集相互作用结构域1A[SWI样]基因）存在体细胞突变。ARID1A编码BAF250a，该蛋白是SWI–SNF染色质重塑复合物的关键组成部分。本研究额外对210例卵巢癌组织及第2株卵巢透明细胞癌细胞系开展ARID1A测序，并通过免疫组织化学分析检测了另外455例卵巢癌组织的BAF250a表达水平。本研究为EGA研究EGAS00000000075。