Evaluation of germline PTEN mutations in familial endometriosis

PTEN is a tumor suppressor gene located on chromosome 10q23.31. It is mutated and/or deleted in human cancers including ovarian and endometrial carcinomas. It has been suggested that mutations in PTEN may also be associated with endometriosis. Endometriosis is an inflammatory condition characterized by growth of endometrial tissue in the peritoneum, ovaries and other organs. The etiology of this condition is unknown; there are no specific laboratory tests or a cure for this illness. Aim To identify PTEN single nucleotide polymorphisms (SNPs) in patients with familial endometriosis. We hypothesize that SNPs in this gene are associated with the development of endometriosis. Methods Denaturing high‐performance liquid chromatography (DHPLC) was used to search for SNPs in exon 8 of the PTEN gene, previously shown to have SNPs associated with cancer syndromes. In brief, exon 8 was PCR‐amplified in genomic DNA obtained from patients and a control subject (reference). Amplicons from patients and reference were hybridized and heteroduplexes ( i.e. , mutants) were detected under partially denaturing conditions (WAVE‐MD, Transgenomic). Results We have analyzed 14 extended families consisting of a total of 92 individuals and 46 patients with endometriosis. Possible mutations in exon 8 of the PTEN gene were observed in 35 out of 46 patients (76%). These preliminary findings will be corroborated by DNA sequencing. Conclusions These data suggest that germline PTEN mutation may play a role in the development of familial endometriosis. Supported in part by NIH #3T34GM07732‐25S1 & NIH‐2G12RR030350