Does endometriosis run in families?

Women with a first degree relative are 7x more likely to develop endometriosis themselves. Animal studies have long demonstrated that common molecular genetic pathways, specifically K-RAS/MAPK and PTEN/PI13, are involved in the pathogenesis of endometriosis (and endometrioid ovarian carcinoma). Separate studies have identified upregulation of multiple genes within the RAS/RAF/MAPK and P13K patheways in endometriosis patients, as compared to controls. Of note, PTEN and K-RAS mutations were found to play a role in the development of low-grade ovarian endometrioid carcinomas; synchronous mutations were also identified in uterine and ovarian endometrioid carcinomas associated specifically with endometriosis. Moreover, loss of the PTEN tumor suppressor gene has been implicated in progression from endometriosis to endometrioid ovarian cancer. [Giudice, Linda, Johannes Leonardus Henricus Evers, and D. L. Healy. Endometriosis: Science and Practice. Chichester, West Sussex: Wiley-Blackwell, 2012. Print]. Even more recently, Australian researchers conducted a study of 5640 Australian, Japanese and European women with endometriosis and identified four new gene regions linked to the condition.