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BRCA Germline Mutations in Women With Uterine Serous Carcinoma-Still a Debate
  1. Ofer Lavie, MD*,
  2. Alon Ben-Arie, MD,
  3. Yakir Segev, MD*,
  4. Jonathan Faro, BSc*,
  5. Frida Barak, MD,
  6. Nir Haya, MD*,
  7. Ron Auslender, MD* and
  8. Ofer Gemer, MD
  1. * From the Department of Obstetrics and Gynecology, Carmel Medical Center, Haifa;
  2. Kaplan Medical Center, Rehovot; and
  3. Barzilai Medical Center, Ashkelon, Israel.
  1. Address correspondence and reprint requests to Ofer Lavie, MD, Gyn-Oncology Unit, Carmel Medical Center, 7 Michal St, Haifa 34362, Israel. E-mail: olavie{at}zahav.net.il.

Abstract

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.

  • BRCA
  • Uterine serous carcinoma

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Footnotes

  • The authors declare that there are no conflicts of interest.

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