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Endometrial Cancers in Mutation Carriers From Hereditary Breast Ovarian Cancer Syndrome Kindreds: Report From the Creighton University Hereditary Cancer Registry With Review of the Implications
  1. Murray Joseph Casey, MD, MS, MBA, PhD*,,
  2. Chhanda Bewtra, MD,
  3. Henry T. Lynch, MS, MD,
  4. Carrie L. Snyder, MSN and
  5. Mark Stacey, MBA
  1. *Departments of Obstetrics and Gynecology,
  2. Preventive Medicine and Public Health, and
  3. Pathology, Creighton University School of Medicine, Omaha, NE.
  1. Address correspondence and reprint requests to Murray Joseph Casey, MD, MS, MBA, PhD, Department of Obstetrics and Gynecology, Creighton University Women’s Health Center, 601 N, 30th St, Suite 4700, Omaha, NE 68131. E-mail: mjcasey{at}


Objective The aim of this study was to categorize and report endometrial cancers in mutation carriers from hereditary breast ovarian cancer families.

Methods Our Hereditary Cancer Registry was searched for gynecologic and peritoneal cancers linked to mutations in BRCA1 or BRCA2. Invasive cancers were registered in 101 mutation carriers with complete pathology reports. Efforts were made to secure diagnostic surgical pathology tissues for review. All records and available diagnostic slides were meticulously studied, and primary cancers were classified.

Findings Eight malignancies were classified as primary endometrial cancers. Five of these were low- or intermediate-grade endometrioid carcinomas, and 3 were pure serous carcinomas or contained serous carcinoma elements mixed with high-grade endometrioid carcinoma. Breast cancers were diagnosed in 5 patients before and in 1 patient after endometrial carcinoma. Three endometrioid carcinomas were preceded by estrogen treatment, 2 for many years and the other for only 2 months, and 2 of the patients with serous carcinoma had been treated with tamoxifen.

Conclusions The finding that 8 of gynecologic and peritoneal cancers in 101 mutation carriers were endometrial cancers with a smaller proportion of endometrioid carcinomas than reported in general populations is added to the current controversial literature on endometrial cancer, particularly regarding serous carcinomas, in hereditary breast ovarian cancer syndrome. Well-designed prospective programs for standardized surgical and pathologic handling, processing, and reporting are essential for working out the pathogenesis, true risks, and best management of this disease in carriers of deleterious BRCA1 and BRCA2 germline mutations.

  • Endometrial cancer
  • BRCA1 and BRCA2
  • Endometrioid and serous carcinomas
  • Pathology

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  • The Cancer Family Study and this investigation are supported by LB595 State of Nebraska funds awarded to Creighton University by the Nebraska Department of Health and Human Services. These contents are the sole responsibility of the authors and do not necessarily represent the official view of the State of Nebraska or the Nebraska Department of Health and Human Services.

  • The authors declare no conflicts of interest.