Identifying Lynch Syndrome in Women Presenting With Endometrial Carcinoma Under the Age of 50 Years

International Journal of Gynecological Cancer : Official Journal of the International Gynecological Cancer Society
Antonios AnagnostopoulosJohn Kirwan

Abstract

Lynch syndrome (LS) is an inherited disorder associated with genetic predisposition to endometrial, colorectal, ovarian, and other cancers. There is consensus for the necessity of assessment for LS in view of the established survival benefits for identified patients and affected family members. The debate regarding the best screening policy is far from being concluded. The aim of this study was to evaluate a realistic protocol for identifying LS families by assessing young women with a diagnosis of endometrial cancer (EC). Consecutive cases of women with a diagnosis of endometrioid EC younger than 50 years were recruited. A complete 3-generation pedigree was drawn and assessed against the Amsterdam II criteria. Tumor DNA microsatellite instability and immunohistochemistry testing for the expression of mismatch repair (MMR) proteins MLH1, MSH2, MSH6, and PMS2 was offered to all patients. MLH1 gene promoter methylation and EPCAM gene deletion testing were also offered where appropriate. Genetic counseling and MMR germline mutation tests were offered in women with abnormal results. Fifty-eight women were invited, and 38 (65.5%), consented for LS assessment (95% confidence interval CI 53%-78%). A complete data set was obtained in 3...Continue Reading

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Citations

Apr 4, 2018·Climacteric : the Journal of the International Menopause Society·I Olver
Jan 19, 2018·The Journal of Pathology·Jessica McAlpineTjalling Bosse
May 6, 2019·International Journal of Cancer. Journal International Du Cancer·Wenjuan TianHuaying Wang
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