DOI:10.18643/gieu.2016.29
"> DOI:10.18643/gieu.2016.29
"> DOI:10.18643/gieu.2016.29
"/> Genetic aspects of endometrial cancer
<- Home <- Arhive <- Vol. 12, Issue 1, March 2016



GINECOeu12(1)29-32(2016)
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Genetic aspects of endometrial cancer

R. Bohiltea, V. Radoi, N. Turcan, M. Cirstoiu


Abstract: The Lynch syndrome represents 2-5% of the total of endometrial cancer and 3% of the total adenocarcinoma of the colon. The risk of developing during life time an endometrial cancer for women with Lynch syndrome is up to 71% compared with 2.6% of the general population, and the average age for diagnosis comes down from 60-64 years to 46-54. The Lynch syndrome is an autosomal dominant disease determined by a mutation of the germ line appearing on the level of one of the genes responsible for deoxyribonucleic acid mismatch repair due to a deletion in the epithelial cell adhesion molecule gene. The Cowden syndrome is a genetic disorder with autosomal dominant transmission having as cause the mutation of the tumor suppressor gene phosphatase and tension homology deleted on chromosome ten, located on the 10q23 chromosome. The risk of developing endometrial cancer for these patients during their life span is estimated to be at 13-28%, cases of teenagers with cancer being reported. The screening by endometrial biopsy is recommended starting from 35-40 years or 5 years earlier than the diagnostic age of the first endometrial cancer in the family. Each patient found suffering from hereditary cancer needs the genetic testing of the family and the screening for endometrial cancer of the relatives affected by this disease.
DOI:10.18643/gieu.2016.29

Keywords: Lynch syndrome, Cowden syndrome, endometrial cancer.

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