ORIGINAL ARTICLE Reproductive biology Mutations in the PTEN tumor gene and risk of endometriosis: a case–control study

study question: Are mutations in the phosphatase and tensin homolog deleted on chromosome 10 (PTEN) gene associated with endometriosis? summaryanswer: Loss of heterozygosity (LOH) at the10q23.3 locus, PTEN somaticmutations and changes in the levels and distribution of proteins in the PTEN-PI3K/Akt signal transduction pathway are associated with endometriosis. what is knownalready: Endometriosis has a stronggeneticbasis. Recent genome-wideassociation and linkage studieshavereported a significant association of endometriosis with 7p15.2, 9p21 and 10q23-26 loci. PTEN, which maps to 10q23.3, acts as a tumor suppressor gene through the action of its phosphatase protein product, phosphatase and tensin homolog (PTEN). This phosphatase is involved in the regulation of the cell cycle, and mutations of PTEN are a step in the development of many cancers.