Familial Cancer

, Volume 7, Issue 2, pp 179–186 | Cite as

Cancer risk reduction and reproductive concerns in female BRCA1/2 mutation carriers

  • Ashley D. Staton
  • Allison W. Kurian
  • Kristin Cobb
  • Meredith A. Mills
  • James M. FordEmail author


Background Women with mutations in the BRCA1 or BRCA2 cancer susceptibility genes face unique choices regarding management of their high risk for breast and ovarian cancer that impact their reproductive options. In order to explore women’s preferences for management of elevated cancer risk, we evaluated the decisions of BRCA1/2 mutation carriers about contraception, prophylactic surgery, and family planning. Methods An internet-based questionnaire assessing high-risk women’s preferences about cancer risk management and reproductive options was designed, pilot-tested and administered electronically to 284 participants of an internet-based advocacy group for women with BRCA1/2 mutations. Results Two hundred and thirteen eligible participants completed the majority of the survey. Mean age was 34 years; 66% were BRCA1 mutation carriers and 34% were BRCA2 mutation carriers. Most women (92%) had used oral contraceptive pills. About 88% of responders reported frequent or extreme worry about transmitting the mutation to their children. Despite their high level of worry, few responders said they would likely consider using assisted reproduction technologies such as a pregnancy surrogate (3%), cryopreservation of oocytes or embryos (8%), or pre-implantation genetic diagnosis (PGD) to select embryos without BRCA1/2 mutations (13%). Conclusions Although they expressed substantial concern about transmitting BRCA1/2 mutations to their children, only a minority of the high-risk women surveyed were likely to consider currently available assisted reproductive strategies. Further research is necessary to explore the risk management preferences of patients with inherited cancer predisposition, and to incorporate these preferences into clinical care.


BRCA1/2 Breast cancer Ovarian cancer Pre-implantation genetic diagnosis Prophylactic mastectomy Prophylactic oophorectomy 



Pre-implantation genetic diagnosis


Prophylactic bilateral salpingo-oophorectomy


Prophylactic mastectomy


State-trait anxiety inventory


Impact of event scale


Institutional review board


Oral contraceptive pills



The authors gratefully acknowledge the assistance of Sue Friedman, DVM, in distributing the questionnaire through the FORCE website.


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Copyright information

© Springer Science+Business Media B.V. 2007

Authors and Affiliations

  • Ashley D. Staton
    • 1
  • Allison W. Kurian
    • 1
    • 2
  • Kristin Cobb
    • 2
  • Meredith A. Mills
    • 1
  • James M. Ford
    • 1
    Email author
  1. 1.Department of MedicineStanford University School of MedicineStanfordUSA
  2. 2.Department of Health Research and PolicyStanford University School of MedicineStanfordUSA

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