Abstract
Expanded genetic testing of BRCA mutations has led to identification of more reproductive-aged women who test positive for the mutation which might impact attitudes and decisions about relationships, childbearing and the use of preimplantation genetic diagnosis (PGD) and prenatal diagnosis (PND). A cross-sectional survey was administered to 1081 self-reported BRCA carriers to investigate how knowledge of BRCA status influences these issues. The mean age at BRCA test disclosure was 44 years and 36 % reported a personal history of cancer. Of 163 women who were unpartnered, 21.5 % felt more pressure to get married. Of 284 women whose families were not complete, 41 % reported that carrier status impacted their decision to have biological children. Women with a history of cancer were more likely to report that knowledge of BRCA+ status impacted their decision to have a child (OR 1.8, 95 % CI 1–3.2). Fifty-nine percent thought PGD should be offered to mutation carriers and 55.5 % thought PND should be offered. In conclusion, knowledge of BRCA status impacts attitudes regarding relationships and childbearing, and most carriers believe that PGD and PND should be offered to other carriers. This study suggests that BRCA carriers desire and would benefit from reproductive counseling after test disclosure.
This is a preview of subscription content, log in via an institution to check access.
Similar content being viewed by others
References
ACOG Practice Bulletin No. 103. (2009). Hereditary breast and ovarian cancer syndrome. Obstetrics and Gynecology, 113(4), 957–966. doi:10.1097/AOG.0b013e3181a106d4.
Antoniou, A., Pharoah, P. D., Narod, S., Risch, H. A., Eyfjord, J. E., Hopper, J. L., . . . Easton, D. F. (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. American Journal of Human Genetics, 72(5), 1117–1130. doi: 10.1086/375033.
Botkin, J. R., Smith, K. R., Croyle, R. T., Baty, B. J., Wylie, J. E., Dutson, D., . . . Lyon, E. (2003). Genetic testing for a BRCA1 mutation: prophylactic surgery and screening behavior in women 2 years post testing. American Journal of Medical Genetics. Part A, 118A(3), 201–209. doi: 10.1002/ajmg.a.10102.
Bottorff, J. L., Ratner, P. A., Balneaves, L. G., Richardson, C. G., McCullum, M., Hack, T., . . . Buxton, J. (2002). Women’s interest in genetic testing for breast cancer risk: the influence of sociodemographics and knowledge. Cancer Epidemiology, Biomarkers and Prevention, 11(1), 89–95.
Chen, S., & Parmigiani, G. (2007). Meta-analysis of BRCA1 and BRCA2 penetrance. Journal of Clinical Oncology, 25(11), 1329–1333. doi:10.1200/JCO.2006.09.1066.
Dekeuwer, C., & Bateman, S. (2013). Much more than a gene: hereditary breast and ovarian cancer, reproductive choices and family life. Medicine, Health Care and Philosophy, 16(2), 231–244. doi:10.1007/s11019-011-9361-9.
Dewanwala, A., Chittenden, A., Rosenblatt, M., Mercado, R., Garber, J. E., Syngal, S., & Stoffel, E. M. (2011). Attitudes toward childbearing and prenatal testing in individuals undergoing genetic testing for Lynch syndrome. Familial Cancer, 10(3), 549–556. doi:10.1007/s10689-011-9448-8.
Domchek, S. M., Friebel, T. M., Singer, C. F., Evans, D. G., Lynch, H. T., Isaacs, C., . . . Rebbeck, T. R. (2010). Association of risk-reducing surgery in BRCA1 or BRCA2 mutation carriers with cancer risk and mortality. JAMA, 304(9), 967–975. doi: 10.1001/jama.2010.1237.
Donnelly, L. S., Watson, M., Moynihan, C., Bancroft, E., Evans, D. G., Eeles, R., . . . Ormondroyd, E. (2013). Reproductive decision-making in young female carriers of a BRCA mutation. Human Reproduction, 28(4), 1006–1012. doi: 10.1093/humrep/des441.
Douma, K. F., Aaronson, N. K., Vasen, H. F., Verhoef, S., Gundy, C. M., & Bleiker, E. M. (2010). Attitudes toward genetic testing in childhood and reproductive decision-making for familial adenomatous polyposis. European Journal of Human Genetics, 18(2), 186–193. doi:10.1038/ejhg.2009.151.
Finch, A., Valentini, A., Greenblatt, E., Lynch, H. T., Ghadirian, P., Armel, S., . . . Hereditary Breast Cancer Study, G. (2013). Frequency of premature menopause in women who carry a BRCA1 or BRCA2 mutation. Fertility and Sterility, 99(6), 1724–1728. doi: 10.1016/j.fertnstert.2013.01.109.
Finch, A. P., Lubinski, J., Moller, P., Singer, C. F., Karlan, B., Senter, L., . . . Narod, S. A. (2014). Impact of oophorectomy on cancer incidence and mortality in women with a BRCA1 or BRCA2 mutation. Journal of Clinical Oncology, 32(15), 1547–1553. doi: 10.1200/JCO.2013.53.2820.
Fortuny, D., Balmana, J., Grana, B., Torres, A., Ramon y Cajal, T., Darder, E., . . . Brunet, J. (2009). Opinion about reproductive decision making among individuals undergoing BRCA1/2 genetic testing in a multicentre Spanish cohort. Human Reproduction, 24(4), 1000–1006. doi: 10.1093/humrep/den471.
Hamilton, R., & Hurley, K. E. (2010). Conditions and consequences of a BRCA mutation in young, single women of childbearing age. Oncology Nursing Forum, 37(5), 627–634. doi:10.1188/10.ONF.627-634.
Julian-Reynier, C., Fabre, R., Coupier, I., Stoppa-Lyonnet, D., Lasset, C., Caron, O., . . . Nogues, C. (2012). BRCA1/2 carriers: their childbearing plans and theoretical intentions about having preimplantation genetic diagnosis and prenatal diagnosis. Genetics in Medicine, 14(5), 527–534. doi: 10.1038/gim.2011.27.
Kauff, N. D., Satagopan, J. M., Robson, M. E., Scheuer, L., Hensley, M., Hudis, C. A., . . . Offit, K. (2002). Risk-reducing salpingo-oophorectomy in women with a BRCA1 or BRCA2 mutation. The New England Journal of Medicine, 346(21), 1609–1615. doi: 10.1056/NEJMoa020119.
King, M. C., Marks, J. H., Mandell, J. B., & New York Breast Cancer Study, G. (2003). Breast and ovarian cancer risks due to inherited mutations in BRCA1 and BRCA2. Science, 302(5645), 643–646. doi:10.1126/science.1088759.
Klitzman, R. L., & Sweeney, M. M. (2011). “In sickness and in health”? Disclosures of genetic risks in dating. Journal of Genetic Counseling, 20(1), 98–112. doi:10.1007/s10897-010-9331-z.
Lin, W. T., Beattie, M., Chen, L. M., Oktay, K., Crawford, S. L., Gold, E. B., . . . Rosen, M. (2013). Comparison of age at natural menopause in BRCA1/2 mutation carriers with a non-clinic-based sample of women in northern California. Cancer, 119(9), 1652–1659. doi: 10.1002/cncr.27952.
Lodder, L. N., Frets, P. G., Trijsburg, R. W., Meijers-Heijboer, E. J., Klijn, J. G., Seynaeve, C., . . . Niermeijer, M. F. (2002). One year follow-up of women opting for presymptomatic testing for BRCA1 and BRCA2: emotional impact of the test outcome and decisions on risk management (surveillance or prophylactic surgery). Breast Cancer Research and Treatment, 73(2), 97–112.
Meijers-Heijboer, E. J., Verhoog, L. C., Brekelmans, C. T., Seynaeve, C., Tilanus-Linthorst, M. M., Wagner, A., . . . Klijn, J. G. (2000). Presymptomatic DNA testing and prophylactic surgery in families with a BRCA1 or BRCA2 mutation. Lancet, 355(9220), 2015–2020.
Menon, U., Harper, J., Sharma, A., Fraser, L., Burnell, M., ElMasry, K., . . . Jacobs, I. (2007). Views of BRCA gene mutation carriers on preimplantation genetic diagnosis as a reproductive option for hereditary breast and ovarian cancer. Human Reproduction, 22(6), 1573–1577. doi: 10.1093/humrep/dem055.
Ormondroyd, E., Donnelly, L., Moynihan, C., Savona, C., Bancroft, E., Evans, D. G., . . . Watson, M. (2012). Attitudes to reproductive genetic testing in women who had a positive BRCA test before having children: a qualitative analysis. European Journal of Human Genetics, 20(1), 4–10. doi: 10.1038/ejhg.2011.146.
Quinn, G., Vadaparampil, S., Wilson, C., King, L., Choi, J., Miree, C., & Friedman, S. (2009). Attitudes of high-risk women toward preimplantation genetic diagnosis. Fertility and Sterility, 91(6), 2361–2368. doi:10.1016/j.fertnstert.2008.03.019.
Rebbeck, T. R., Lynch, H. T., Neuhausen, S. L., Narod, S. A., Van't Veer, L., Garber, J. E., . . . Observation of Surgical End Points Study, G. (2002). Prophylactic oophorectomy in carriers of BRCA1 or BRCA2 mutations. The New England Journal of Medicine, 346(21), 1616–1622. doi: 10.1056/NEJMoa012158.
Rebbeck, T. R., Kauff, N. D., & Domchek, S. M. (2009). Meta-analysis of risk reduction estimates associated with risk-reducing salpingo-oophorectomy in BRCA1 or BRCA2 mutation carriers. Journal of the National Cancer Institute, 101(2), 80–87. doi:10.1093/jnci/djn442.
Rich, T. A., Liu, M., Etzel, C. J., Bannon, S. A., Mork, M. E., Ready, K., . . . Litton, J. K. (2014). Comparison of attitudes regarding preimplantation genetic diagnosis among patients with hereditary cancer syndromes. Familial Cancer, 13(2), 291–299. doi: 10.1007/s10689-013-9685-0.
Rzepka-Gorska, I., Tarnowski, B., Chudecka-Glaz, A., Gorski, B., Zielinska, D., & Toloczko-Grabarek, A. (2006). Premature menopause in patients with BRCA1 gene mutation. Breast Cancer Research and Treatment, 100(1), 59–63. doi:10.1007/s10549-006-9220-1.
Smith, K. R., Ellington, L., Chan, A. Y., Croyle, R. T., & Botkin, J. R. (2004). Fertility intentions following testing for a BRCA1 gene mutation. Cancer Epidemiology, Biomarkers and Prevention, 13(5), 733–740.
Staton, A. D., Kurian, A. W., Cobb, K., Mills, M. A., & Ford, J. M. (2008). Cancer risk reduction and reproductive concerns in female BRCA1/2 mutation carriers. Familial Cancer, 7(2), 179–186. doi:10.1007/s10689-007-9171-7.
Vadaparampil, S. T., Quinn, G. P., Knapp, C., Malo, T. L., & Friedman, S. (2009). Factors associated with preimplantation genetic diagnosis acceptance among women concerned about hereditary breast and ovarian cancer. Genetics in Medicine, 11(10), 757–765. doi:10.1097/GIM.0b013e3181b3f451.
Wang, E. T., Pisarska, M. D., Bresee, C., Chen, Y. D., Lester, J., Afshar, Y., . . . Karlan, B. Y. (2014). BRCA1 germline mutations may be associated with reduced ovarian reserve. Fertility and Sterility, 102(6), 1723–1728. doi: 10.1016/j.fertnstert.2014.08.014.
Watson, M., Foster, C., Eeles, R., Eccles, D., Ashley, S., Davidson, R., . . . Psychosocial Study, C. (2004). Psychosocial impact of breast/ovarian (BRCA1/2) cancer-predictive genetic testing in a UK multi-centre clinical cohort. British Journal of Cancer, 91(10), 1787–1794. doi: 10.1038/sj.bjc.6602207.
Woodson, A. H., Muse, K. I., Lin, H., Jackson, M., Mattair, D. N., Schover, L., . . . Litton, J. K. (2014). Breast cancer, BRCA mutations, and attitudes regarding pregnancy and preimplantation genetic diagnosis. Oncologist, 19(8), 797–804. doi: 10.1634/theoncologist.2014-0057.
Acknowledgments
This research was supported by the National Institutes of Health (Grant numbers: R01-HD-062797-05- Dr. Gracia, T32 HD007440- Drs. Chan and Johnson), the Basser Center for BRCA research (Dr. Domchek) and the Susan B. Komen Foundation (Dr. Domchek). We would also like to acknowledge the community of FORCE for participation in this research.
Author information
Authors and Affiliations
Corresponding author
Ethics declarations
Human Studies and Informed Consent
All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards. Informed consent was obtained from all participants for being including in the study.
Conflict of Interest
The authors declare that they have no conflict of interest.
Electronic supplementary material
Below is the link to the electronic supplementary material.
ESM 1
(DOC 62 kb)
Rights and permissions
About this article
Cite this article
Chan, J.L., Johnson, L.N.C., Sammel, M.D. et al. Reproductive Decision-Making in Women with BRCA1/2 Mutations. J Genet Counsel 26, 594–603 (2017). https://doi.org/10.1007/s10897-016-0035-x
Received:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s10897-016-0035-x