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Objectives: The genes associated with familial Endometrial Cancer (EC) are largely unknown. While EC is an integral part of Hereditary Non-Polyposis Colon Cancer, there is an ongoing debate if EC is indeed overrepresented in hereditary breast/ovarian cancer families., Methods: Unselected Jewish women with EC who were diagnosed from January 1982 to January 2008 were genotyped for the predominant mutations in Jewish individuals in BRCA1 (185delAG, 5382InsC, Tyr978X) BRCA2 (6174delT), MSH2 (A636P, 324delCA) and MSH6 (c.3984&#95;3987dup)., Results: Overall, 289 Jewish women with EC were included, the majority (217-75%) were Ashkenazim. Mean age at diagnosis was 62.6 ± 12 years, the most common histopathology was type I (endometrioid carcinoma) (80.4% of participants) with 29 having type II (Uterine papillary serous and clear cell cancer) Most patients (85.4%) had stage 1 disease by the FIGO staging. Five women (1.7%-2.3% of the Ashkenazim) carried either the BRCA1*185delAG (n = 4) or BRCA2*6174delT (n = 1) mutations, a rate similar with that of the general Ashkenazi population. Notably, none of 34 women with type II EC carried any BRCA1/BRCA2 mutations. Four (1.8%) and three (1.4%) of the 217 Ashkenazim patients harbored the c.3984&#95;3987dup, A636P, MSH6 and MSH2 mutations, respectively, and 1/72 (1.4%) of the non-Ashkenazi patients harbored the 324delCA MSH2 mutation. Three of 42 (7.1%) women with EC diagnosed < 50 years carried either BRCA1 MSH6 or MSH2 mutations., Conclusions: Our data do not support screening for BRCA1/2 mutations in consecutive EC patients., (Copyright © 2010 Elsevier Inc. All rights reserved.)

Ovarian cancer usually remains clinically silent until it is far advanced, and is associated with significant morbidity and mortality. In view of the modest impact of adjuvant treatments on survival, much effort is devoted to early detection programs and prevention strategies. However, the usefulness of early detection programs remains to be established, with only one randomized study indicating improved median survival in screened individuals. At present, oral contraceptives and prophylactic oophorectomy are the only options for prevention of ovarian cancer. Indications for prophylactic oophorectomy either as a primary procedure, or secondary to abdominal surgery, will vary according to the estimated risk, and to the individual's perception of that risk. Genetic screening allows better identification of pre-symptomatic individuals who would benefit the most from prophylactic oophorectomy. Data concerning the benefit of prophylactic surgery, and the safety of established or innovative hormone replacement therapies in individuals at risk, are encouraging., (Copyright 2000 Wiley-Liss, Inc.)