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BRCA1/2 Germline Mutations in Jewish Patients With Uterine Serous Carcinoma
  1. Ilan Bruchim, MD*,
  2. Keren Amichay, MD*,
  3. Dvora Kidron, MD,
  4. Zohar Attias, MSc,
  5. Tal Biron-Shental, MD*,
  6. Liat Drucker, PhD§,
  7. Eitan Friedman, MD, PhD,
  8. Haim Werner, PhD and
  9. Ami Fishman, MD*
  1. *Gynecologic Oncology Unit, Department of Obstetrics and Gynecology, and
  2. Department of Pathology, Meir Medical Center, Kfar Saba, Israel;
  3. Department of Human Molecular Genetics and Biochemistry, Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel;
  4. §Oncogenic Laboratory, Meir Medical Center, Kfar Saba, Israel; and
  5. Susanne Levy Gertner Oncogenetics Unit, Chaim Sheba Medical Center, Tel Hashomer, Israel.
  1. Address correspondence and reprint requests to Ilan Bruchim, MD, Department of Obstetrics and Gynecology, Meir Medical Center, 59 Tschernichovski, Kfar Saba, 44281 Israel. E-mail: ilan.bruchim{at}


Introduction: Whether and to what extent germline mutations in the BRCA1 and BRCA2 genes increase the risk for developing uterine serous carcinoma (USC) remain controversial. We assessed the rate of the 3 predominant BRCA1/2 mutations in Jewish patients with USC and the relevance of carrier status to clinicopathological features and survival.

Methods: Jewish patients with histologically confirmed USC diagnosed between April 1997 and December 2007 were genotyped for the 3 predominant BRCA1 (185delAG and 5382insC) and BRCA2 (6174delT) mutations. Clinical characteristics were abstracted from the patients' medical records. The Kaplan-Meier method and log-rank tests were used for survival analyses.

Results: Overall, 8 (25.8%) of 31 Jewish patients with USC who participated in the study were mutation carriers: 4 were BRCA2 (6174delT) carriers and 2 each carried the BRCA1 mutations (185delAG and 5382insC). The median ages of the carriers and the noncarriers were 66 and 74 years, respectively (P = 0.124). Four (50%) of the mutation carriers and 2 (8%) of the noncarriers had a family history of breast-ovarian cancer (P = 0.026). With a median follow-up of 76 months, the overall median survival time was 25 months. No significant differences in the median survival time, 2-year survival, or progression-free survival were noted between the mutation carriers and the noncarriers.

Conclusions: The high rate of the predominant BRCA1/2 mutations in unselected Jewish USC patients, if confirmed by future studies, suggests that USC could be considered an expression of the hereditary breast-ovarian cancer syndrome.

  • Uterine serous carcinoma
  • BRCA1/2 mutations
  • Germline mutations
  • Survival

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  • The research was partially supported by a grant from the Israel Cancer Research Fund, Montreal, Quebec, Canada.