Genetic Testing for Breast and Ovarian Cancer Susceptibility: A Family Experience

Marcia Van Riper, RN, PhD


J Midwifery Womens Health. 2004;49(3) 

In This Article

Management Options for Clients at Increased Risk for Hereditary Breast and Ovarian Cancers

Individuals at increased risk for hereditary breast and ovarian cancer have many options to consider, such as increased surveillance, chemoprevention, and prophylactic surgeries ( Table 5 ). These options are largely based on expert opinion, and long-term studies demonstrating their efficacy have yet to be completed. There is evidence that in women with a strong family history of breast and ovarian cancer, a prophylactic mastectomy can decrease the incidence of breast cancer by 90%.[65] There is also evidence that a prophylactic oophorectomy can significantly reduce the risk of ovarian cancer, epithelial cancer, and breast cancer in women with BRCA1 or BRCA2 mutations.[66] Findings from a study by Tiller and colleagues[67] suggest that undergoing a prophylactic oophorectomy may help reduce anxiety about ovarian cancer in high-risk women, and the benefit of anxiety reduction may outweigh the potential adverse effects of undergoing a prophylactic oophorectomy.

Unfortunately, findings from other studies have not been as promising. Liede and colleagues[68] concluded that intensive surveillance with CA-125 and ultrasound may not be an effective means of diagnosing early-stage ovarian cancer in Jewish women at high risk for hereditary breast and ovarian cancer. At a recent symposium on ovarian cancer and high-risk women, it was concluded that better methods are urgently needed to prevent, detect, and screen for ovarian cancer in all women, but particularly in high-risk women carrying BRCA1 and BRCA2 mutations.[69]

Health care providers need to make sure that their clients have a good understanding of available options before any decisions are made about screening and surveillance, chemoprevention, or prophylactic surgery. Although some health care providers have the training and expertise necessary to adequately discuss these options with their clients, others do not and they need to refer their clients to genetic specialists, such as genetic counselors, advanced practice nurses and physicians assistants with expertise in genetics, and geneticists. Many medical centers have genetics clinics and familial cancer programs. Some also have outreach genetic clinics. See Table for a list of resources.


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