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BRCA Germline Mutations in Women With Uterine Serous Carcinoma-Still a Debate

Lavie, Ofer MD*; Ben-Arie, Alon MD; Segev, Yakir MD*; Faro, Jonathan BSc*; Barak, Frida MD; Haya, Nir MD*; Auslender, Ron MD*; Gemer, Ofer MD

International Journal of Gynecological Cancer: December 2010 - Volume 20 - Issue 9 - p 1531-1534
doi: 10.1111/IGC.0b013e3181cd242f
Ovarian Cancer

Objective: To determine the incidence of BRCA1 and BRCA2 mutations in an enlarged series of uterine serous carcinoma (USC) patients and to determine whether patients with USC are associated with a personal or familial history of breast or ovarian carcinoma.

Methods: A cohort of all consecutive patients with diagnosed USC was identified for 9 years. Family pedigrees were drawn as far back and laterally as possible. In all patients, genomic DNA was extracted from peripheral blood samples and analyzed for the 3 mutations common in Ashkenazi Jewish patients. All patients went through total abdominal hysterectomy, bilateral salpingo-oophorectomy, and omentectomy. Tubal, ovarian, and peritoneal carcinoma were ruled out clinically and pathologically in all patients.

Results: Of 51 consecutive patients with USC in Ashkenazi Jews studied, we identified 13 patients (25.5%) who were previously found to have breast carcinoma, 17 patients (33.3%) who had a first-degree relative with breast or ovarian carcinoma, and 8 patients (15.7%) who were found to be carriers of 1 of the 3 BRCA germline mutations.

Conclusions: This series of USC patients, the largest consecutive series to date, suggests a higher incidence of BRCA carriers among Ashkenazi Jews as compared with the general population. This high rate of BRCA germline mutations in USC patients coupled with a high rate of personal and familial cancer histories may suggest that USC is associated with the hereditary breast-ovarian syndrome. This potential association of USC to the BRCA-associated cancer spectrum may have implications for the clinical management and intervention of unaffected BRCA1-2 germline mutation carriers. However, at the current time, there are insufficient data to provide evidence-based guidelines regarding the optimal timing or specific intervention to prevent cancers in these high-risk women.

From the *Department of Obstetrics and Gynecology, Carmel Medical Center, Haifa; †Kaplan Medical Center, Rehovot; and ‡Barzilai Medical Center, Ashkelon, Israel.

Received August 22, 2009, and in revised form November 18, 2009.

Accepted for publication November 30, 2009.

Address correspondence and reprint requests to Ofer Lavie, MD, Gyn-Oncology Unit, Carmel Medical Center, 7 Michal St, Haifa 34362, Israel. E-mail:

The authors declare that there are no conflicts of interest.

Copyright © 2010 by IGCS and ESGO