Five variants were previously reported to confer risk of various malignant or benign tumors (rs78378222 in TP53, rs10069690 in TERT, rs1800057 and rs1801516 in ATM, and rs7907606 at OBFC1) and four signals are located at established risk loci for hormone-related traits (endometriosis and breast cancer) at 1q36.12 (CDC42/WNT4), 2p25.1 (GREB1), 20p12.3 (MCM8), and 6q26.2 (SYNE1/ESR1).
Taken together, our results suggest that SNPs increasing endometriosis risk in this region act through CDC42, but further functional studies are required to rule out inverse regulation of both LINC00339 and CDC42.
In contrast, only 5 endometriotic cysts containing carcinoma (contiguous endometriosis) (5/18, or 28%) and 1 ovarian carcinoma arising from endometriosis (1/18, or 5%) had CDC42-positive macrophages (58% versus 28%, P = .065; 28% versus 5%, P = .046).