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Added Value of Family History in Counseling About Risk of BRCA1/2 Mutation in Early-Onset Epithelial Ovarian Cancer
  1. Marieke Arts-de Jong, MD*,
  2. Catharina M. Manders, MD,
  3. Nicoline Hoogerbrugge, MD, PhD,
  4. Marjolijn J.L. Ligtenberg, PhD,§,
  5. Leon F. Massuger, MD, PhD*,
  6. Joanne A. de Hullu, MD, PhD* and
  7. Liesbeth Spruijt, MD, PhD
  1. *Departments of Obstetrics and Gynaecology,
  2. Departments of Internal Medicine,
  3. Departments of Human Genetics, and
  4. §Departments of Pathology, Radboud University Medical Centre, Nijmegen, The Netherlands.
  1. Address correspondence and reprint requests to Marieke Arts-de Jong, MD, Department of Obstetrics and Gynaecology, Radboud University Medical Centre, Geert Grooteplein Zuid 10, 6525 GA Nijmegen, The Netherlands. E-mail:


Objectives Epithelial ovarian cancer in women 40 years or younger is rare; diagnosis at this age justifies referral for genetic testing. We evaluated clinical data, family history, and risk of identifying BRCA1/2 mutations in women with early-onset epithelial ovarian cancer.

Materials/Methods Women 40 years or younger with epithelial ovarian cancer tested for BRCA1/2 mutation at our department of human genetics between 1996 and 2012 were included. The rate of BRCA1/2 mutation was obtained; carriers were compared to noncarriers regarding clinical data.

Results Ten (19%) of 52 women had a BRCA1/2 mutation. This mutation was detected in 67% of women with and in 9% of the women without first-degree relatives with breast and/or ovarian cancer (P < 0.001; Fisher exact test). The median age at diagnosis was lower in the noncarriers compared to the carriers (30 vs 38 years; P = 0.014). Among the BRCA1/2 mutation carriers, 60% had serous tumors, 80% had moderately to poorly differentiated tumors, and 70% had International Federation of Gynecology and Obstetrics stage III/IV compared to 55%, 43%, and 45%, respectively, in the noncarriers.

Conclusions The risk of finding a BRCA1/2 mutation in women 40 years or younger is comparable to women of all ages with epithelial ovarian cancer. Prior probability of finding a BRCA1/2 mutation in these young women is largely determined by their family history, which can help caregivers in informing ahead of genetic counseling and testing.

  • Epithelial ovarian cancer
  • BRCA1/2 mutations
  • Early onset
  • Family history

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  • There are no sources of support or funding to declare.

  • The authors declare no conflicts of interest.