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Keywords

BRCA1/2, Estrogen, Hereditary cancer, Syndrome, Prophylactic mastectomy, Prophylactic oophorectomy

 

Authors

  1. Carvalho, Maria de MSN, RN, AOCN
  2. Jenkins, Jean PhD, RN, FAAN
  3. Nehrebecky, Michele MS, CRNP
  4. Lahl, Lynda MS, RN

Abstract

Persons undergoing genetic testing for an inherited predisposition to cancer often raise questions about recommendations for follow-up care. Missing from current guidelines is consideration of the role of estrogens for BRCA1/BRCA2 mutation carriers. Potential implications of hormones for risk of cancer and effectiveness of risk-reduction strategies need to be considered in the design of comprehensive guidelines for high-risk women. Patients who are mutation carriers may ask questions about the use of oral contraceptives, hormone replacement, and utility of current screening modalities. Controversy exists, even when considering these issues for the general population, but become more imperative when considering young, unaffected women who carry an inherited genetic mutation making decisions that may have long-term health consequences. Many patients have considered estrogen ablation via prophylactic surgeries as risk-reduction interventions. This article reviews data regarding these issues, makes recommendations based on available information, and offers future perspectives for those identified at high risk for cancer because of genetic predisposition. Although questions remain regarding the potential implications of hormones for risk of cancer and effectiveness of risk-reduction strategies, all information should be considered when educating and caring for such patients.

 

Persons undergoing genetic testing to assess an inherited predisposition to the development of cancer often raise questions about recommendations for follow-up care. Clinical recommendations are available for individuals with an inherited predisposition to hereditary breast/ovarian cancer (HBOC) with mutations of the BRCA1 or BRCA2 genes. 1 Missing from these guidelines is consideration of the role of estrogens for BRCA1/BRCA2 mutation carriers. Potential implications of hormones for risk of cancer and effectiveness of risk-reduction strategies need to be considered in the design of comprehensive guidelines for high-risk women.

 

Identification of high-risk individuals begins with a personal and family history prior to actual genetic testing. Heredity is not singularly responsible for individuals developing cancer; there are also environmental and lifestyle contributions. However, once individuals have been evaluated and found to carry genetic alterations that increase her lifetime risk of cancer, targeted screening and prevention interventions can be considered. When found to have a genetic mutation, patients often ask about use of oral contraceptives, hormone replacement, and utility of current screening modalities. Controversial ideas exist, even when considering these issues for the general population, but become more imperative when considering young, unaffected women who carry an inherited genetic mutation making decisions which will have long-term health consequences. 2 Many patients have considered estrogen ablation via prophylactic surgeries as risk-reduction interventions. This article provides a review of data regarding these issues, makes recommendations based on available information, and offers suggestions for future research for those identified at high risk for cancer because of a genetic predisposition.