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

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Abstract

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.

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Abbreviations

PGD:

Pre-implantation genetic diagnosis

PO:

Prophylactic bilateral salpingo-oophorectomy

PM:

Prophylactic mastectomy

STAI:

State-trait anxiety inventory

IES:

Impact of event scale

IRB:

Institutional review board

OCPs:

Oral contraceptive pills

References

  1. Antoniou A, Pharoah PD, Narod S et al (2003) Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case series unselected for family history: a combined analysis of 22 studies. Am J Hum Genet 72:1117–1130

    Article  PubMed  CAS  Google Scholar 

  2. Chen S, Parmigiani G (2007) Meta-analysis of BRCA1 and BRCA2 penetrance. J Clin Oncol 25:1329–1333

    Article  PubMed  Google Scholar 

  3. Metcalfe KA, Snyder C, Seidel J et al (2005) The use of preventive measures among healthy women who carry a BRCA1 or BRCA2 mutation. Fam Cancer 4:97–103

    Article  PubMed  Google Scholar 

  4. Cullinane CA, Lubinski J, Neuhausen SL et al (2005) Effect of pregnancy as a risk factor for breast cancer in BRCA1/BRCA2 mutation carriers. Int J Cancer 117:988–991

    Article  PubMed  CAS  Google Scholar 

  5. Friedman LC, Kramer RM (2005) Reproductive issues for women with BRCA mutations. J Natl Cancer Inst Monogr 34:83–86

    Article  PubMed  Google Scholar 

  6. Jernstrom H, Lubinski J, Lynch HT et al (2004) Breast-feeding and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers. J Natl Cancer Inst 96:1094–1098

    Article  PubMed  CAS  Google Scholar 

  7. Narod SA, Dube MP, Klijn J et al (2002) Oral contraceptives and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers. J Natl Cancer Inst 94:1773–1779

    PubMed  CAS  Google Scholar 

  8. Narod SA, Offit K (2005) Prevention and management of hereditary breast cancer. J Clin Oncol 23:1656–1663

    Article  PubMed  Google Scholar 

  9. National Comprehensive Cancer Network. Genetic/familial High-risk Assessment: Breast and Ovarian Cancer

  10. Narod SA, Brunet JS, Ghadirian P et al (2000) Tamoxifen and risk of contralateral breast cancer in BRCA1 and BRCA2 mutation carriers: a case-control study hereditary breast cancer clinical study group. Lancet 356:1876–1881

    Article  PubMed  CAS  Google Scholar 

  11. Gronwald J, Tung N, Foulkes WD et al (2006) Tamoxifen and contralateral breast cancer in BRCA1 and BRCA2 carriers: an update. Int J Cancer 118:2281–2284

    Article  PubMed  CAS  Google Scholar 

  12. Miki Y, Swensen J, Shattuck-Eidens D et al (1994) A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. Science 266:66–71

    Article  PubMed  CAS  Google Scholar 

  13. Offit K, Kohut K, Clagett B et al (2006) Cancer genetic testing and assisted reproduction. J Clin Oncol 24:4775–4782

    Article  PubMed  Google Scholar 

  14. Lodder LN, Frets PG, Trijsburg RW et al (2000) Attitudes towards termination of pregnancy in subjects who underwent presymptomatic testing for the BRCA1/BRCA2 gene mutation in the Netherlands. J Med Genet 37:883–884

    Article  PubMed  CAS  Google Scholar 

  15. Wagner TM, Ahner R (1998) Prenatal testing for late-onset diseases such as mutations in the breast cancer gene 1 (BRCA1). Just a choice or a step in the wrong direction? Hum Reprod 13:1125–1126

    Article  PubMed  CAS  Google Scholar 

  16. Lancaster JM, Wiseman RW, Berchuck A (1996) An inevitable dilemma: prenatal testing for mutations in the BRCA1 breast-ovarian cancer susceptibility gene. Obstet Gynecol 87:306–309

    Article  PubMed  CAS  Google Scholar 

  17. Menon U, Harper J, Sharma A et al (2007) Views of BRCA gene mutation carriers on preimplantation genetic diagnosis as a reproductive option for hereditary breast and ovarian cancer. Hum Reprod 22:1573–1577

    Article  PubMed  CAS  Google Scholar 

  18. Partridge AH, Gelber S, Peppercorn J et al (2004) Web-based survey of fertility issues in young women with breast cancer. J Clin Oncol 22:4174–4183

    Article  PubMed  Google Scholar 

  19. Friedman S (2005) FORCE: facing our risk of cancer empowered. Available at www.facingourrisk.org. Accessed April 3 2007

  20. Kurian AW, Hartman AR, Mills MA et al (2005) Opinions of women with high inherited breast cancer risk about prophylactic mastectomy: an initial evaluation from a screening trial including magnetic resonance imaging and ductal lavage. Health Expect 8:221–233

    Article  PubMed  Google Scholar 

  21. Spielberger CD, Gorsuch RL, Lushene RD (1970) Manual for the state-trait anxiety inventory (self-evaluation questionnaire). Consulting Psychologists Press, Palo Alto, CA

    Google Scholar 

  22. Horowitz M, Wilner N, Alvarez W (1979) Impact of event scale: a measure of subjective stress. Psychosom Med 41:209–218

    PubMed  CAS  Google Scholar 

  23. Silvera SA, Miller AB, Rohan TE (2005) Oral contraceptive use and risk of breast cancer among women with a family history of breast cancer: a prospective cohort study. Cancer Causes Control 16:1059–1063

    Article  PubMed  Google Scholar 

  24. Bensyl DM, Iuliano DA, Carter M et al (2005) Contraceptive use—United States and territories, behavioral risk factor surveillance system, 2002. MMWR Surveill Summ 54:1–72

    PubMed  Google Scholar 

  25. Milne RL, Knight JA, John EM et al (2005) Oral contraceptive use and risk of early-onset breast cancer in carriers and noncarriers of BRCA1 and BRCA2 mutations. Cancer Epidemiol Biomarkers Prev 14:350–356

    Article  PubMed  CAS  Google Scholar 

  26. Friedenson B (2001) A current perspective on genetic testing for breast and ovarian cancer: the oral contraceptive decision. MedGenMed 3:2

    PubMed  CAS  Google Scholar 

  27. McLaughlin JR, Risch HA, Lubinski J et al (2007) Reproductive risk factors for ovarian cancer in carriers of BRCA1 or BRCA2 mutations: a case-control study. Lancet Oncol 8:26–34

    Article  PubMed  CAS  Google Scholar 

  28. McInerney-Leo A, Biesecker BB, Hadley DW et al (2004) BRCA1/2 testing in hereditary breast and ovarian cancer families: effectiveness of problem-solving training as a counseling intervention. Am J Med Genet A 130:221–227

    Article  Google Scholar 

  29. Vadaparampil ST, Ropka M, Stefanek ME (2005) Measurement of psychological factors associated with genetic testing for hereditary breast, ovarian and colon cancers. Fam Cancer 4:195–206

    Article  PubMed  Google Scholar 

  30. Calzone KA, Prindiville SA, Jourkiv O et al (2005) Randomized comparison of group versus individual genetic education and counseling for familial breast and/or ovarian cancer. J Clin Oncol 23:3455–3464

    Article  PubMed  Google Scholar 

  31. Croyle RT, Smith KR, Botkin JR et al (1997) Psychological responses to BRCA1 mutation testing: preliminary findings. Health Psychol 16:63–72

    Article  PubMed  CAS  Google Scholar 

  32. Spielberger CD, Vagg PR, Barker LR et al (1983) Manual for the state-trait anxiety inventory (FormY). Mind Garden, Redwood City, CA

    Google Scholar 

  33. Thewes B, Meiser B, Hickie IB (2001) Psychometric properties of the impact of event scale amongst women at increased risk for hereditary breast cancer. Psychooncology 10:459–468

    Article  PubMed  CAS  Google Scholar 

  34. Spits C, De Rycke M, Van Ranst N et al (2007) Preimplantation genetic diagnosis for cancer predisposition syndromes. Prenat Diagn 27:447–456

    Article  PubMed  CAS  Google Scholar 

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Acknowledgement

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

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Authors and Affiliations

  1. Department of Medicine, Stanford University School of Medicine, CCSR Building, Room 1115, 269 Campus Drive, Stanford, CA, 94305-5151, USA

    Ashley D. Staton, Allison W. Kurian, Meredith A. Mills & James M. Ford

  2. Department of Health Research and Policy, Stanford University School of Medicine, Stanford, CA, USA

    Allison W. Kurian & Kristin Cobb

Authors
  1. Ashley D. Staton
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  2. Allison W. Kurian
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  3. Kristin Cobb
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  4. Meredith A. Mills
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  5. James M. Ford
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Correspondence to James M. Ford.

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Staton, A.D., Kurian, A.W., Cobb, K. et al. Cancer risk reduction and reproductive concerns in female BRCA1/2 mutation carriers. Familial Cancer 7, 179–186 (2008). https://doi.org/10.1007/s10689-007-9171-7

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  • DOI: https://doi.org/10.1007/s10689-007-9171-7

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