{"paper_id":"39b7fb27-bfb0-44c0-93f9-977b4007064b","body_text":"Abstract\nLynch syndrome is an autosomal dominant cancer-susceptibility disorder caused by mutations in DNA mismatch repair genes. Women with Lynch syndrome have an increased lifetime risk for endometrial and ovarian cancers. While there is evidence of efficacy for prophylactic surgery, no standard recommendations have been developed to support screening for premalignant endometrial and ovarian epithelial lesions in high-risk women. Here, we report a case of a healthy woman carrying a germline mutation in MLH1 gene with endometrial intra-epithelial neoplasia and ovarian endometriotic lesions exhibiting a loss of MLH1 protein expression. This case report illustrates the malignant potential of endometriosis, and highlights the need for a meticulous management of gynecologic premalignant precursor lesions in reducing cancer risk among related Lynch syndrome women.\nSimilar content being viewed by others\nAbbreviations\n- HNPCC:\n-\nHereditary non-polyposis colorectal cancer\n- MMR:\n-\nDNA mismatch repair system\n- MSI:\n-\nMicrosatellite instability\nReferences\nLynch HT, de la Chapelle A (2003) Hereditary colorectal cancer. N Engl J Med 348:919–932\nSchmeler KM, Lynch HT, Chen LM et al (2006) Prophylactic surgery to reduce the risk of gynecologic cancers in the Lynch syndrome. N Engl J Med 354:261–269\nSeiden MV, Patel D, O’Neill MJ, Oliva E (2007) Case records of the Massachusetts General Hospital. Case 13–2007. A 46-year-old woman with gynecologic and intestinal cancers. 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J Clin Oncol 27:4793–4797\nAuthor information\nAuthors and Affiliations\nCorresponding author\nRights and permissions\nAbout this article\nCite this article\nNyiraneza, C., Marbaix, E., Smets, M. et al. High risk for neoplastic transformation of endometriosis in a carrier of lynch syndrome. Familial Cancer 9, 383–387 (2010). https://doi.org/10.1007/s10689-010-9321-1\nPublished:\nIssue date:\nDOI: https://doi.org/10.1007/s10689-010-9321-1","source_license":"public-domain-us","license_restricted":false}