Abstract

Abstract Background: Breast cancer is associated with treatment-related infertility and has been demonstrated to be a major concern for premenopausal survivors. Detection of a BRCA deleterious mutation may also affect attitudes regarding future childbearing. Preimplantation genetic diagnosis (PGD) allows women to use in vitro fertilization (IVF) to implant only those embryos without a BRCA mutation. The ability to test the fetus for BRCA mutations is also available through amniocentesis and chorionic villus sampling (CVS). The objective of this study was to evaluate attitudes about childbearing and fertility in women being evaluated for a BRCA mutation. Methods: Women with childbearing potential who were referred to the Clinical Cancer Genetics Clinic to be evaluated for a BRCA mutation were invited to participate in this survey. The questionnaire was administered prior to genetic counseling. A follow-up was administered after the BRCA results were disclosed. The survey queried participants regarding their attitudes on fertility, pregnancy as it may relate to cancer and the potential of a BRCA mutation. Other questions detailed attitudes regarding IVF, PGD, and CVS in these instances. Descriptive statistics were used. Results: One hundred and twenty-eight women completed pre-questionnaires and to date 76 have completed post results disclosure questionnaires. The mean age was 33 (range 21–44) with 69.5% with a diagnosis of breast cancer, 39.8% received chemotherapy and 60.9% already had at least 1 biological child. A future child was desired by 45.3% although 53.1% worried that their children would have an increased risk of cancer. Regarding PGD, although only 30.9% (38/123) said that they would use PGD, 80.2% felt that the testing should be available to families with inherited cancers. Regarding fetal testing via amniocentesis or CVS, 29.7% would have the fetus tested and 7% would consider termination if a genetic mutation was identified. Additionally, 69.5% felt it was important to receive fertility counseling and treatment at the same place where they receive their cancer care. To date 8 women have been diagnosed with a BRCA1 mutation and 4 with a BRCA2 mutation. When asked similar questions after their genetic results were disclosed, 2 women who had previously stated they would not use PGD changed their mind. Conclusions: Future pregnancies are important to many breast cancer survivors. BRCA mutation carriers have the option to have children without passing on their genetic risk for cancer. Although few would use these interventions, a large majority felt it was important to have information about these choices and to have options for fertility preservation options addressed at the center where cancer care is delivered. Citation Information: Cancer Res 2011;71(24 Suppl):Abstract nr P2-13-05.

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