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Genetic Counselors Help Transgender Patients Understand Cancer Risks Associated with BRCA Mutations Before Transition

Wednesday Sep 20, 2017

Transgender individuals should be aware of their family history of cancer or any cancer-related gene mutations that run in their family as these factors may influence their choices regarding hormone treatment and gender-confirmation surgery, note genetic counselors from Dana-Farber Cancer Institute in Boston.

A mutation in the BRCA1 or BRCA2 gene increases the risk for breast cancer and ovarian cancer in cis-gender women. People with a strong family history of breast and/or ovarian cancer should be offered genetic testing to determine whether they possess a BRCA1 or BRCA2 mutation. It is important for providers managing transgender patients to collect information about any family history of cancer and to refer them for genetic counseling if the history is concerning.

Although there is limited research, taking female hormones may increase breast cancer risk in transgender women, especially those with a BRCA1 or BRCA2 mutation. When these mutations are present in transgender men, surgery to remove the breasts, also referred to as top surgery, may not decrease breast cancer risk as much as a risk-reducing mastectomy, as the procedures differ in the way they are completed in the operating room.

Additionally, transgender men do not always have their ovaries removed as part of their transition, but would be encouraged to do so if they were found to carry a BRCA1 or BRCA2 mutation. 

The genetic counselors discussed their sessions with three transgender patients (two female-to-male, one male-to-female) who had a 50 percent or higher risk of carrying a BRCA1 mutation. One patient was a transgender male who tested positive for a BRCA1 mutation. The genetic counselors explained that his residual breast tissue after top surgery might remain susceptible to cancer. The genetics team counseled the patient regarding options, including continued screening for breast cancer or additional surgery to remove susceptible breast tissue.

"Some healthcare providers are afraid to ask relevant medical questions of their transgender patients because they fear it may be offensive. But awareness and testing are important because they may impact their decisions," said Rosalba Sacca, MS, Ph.D., GCC, lead author of the case series. "Rather than being a barrier to transitioning, genetic counseling can benefit transgender individuals at risk forBRCA1 or BRCA2 mutations by helping them understand their cancer risks and the choices available to them to manage those risks."

NSGC is the leading voice, authority, and advocate for the genetic counseling profession, representing more than 3,600 health care professionals. The organization is committed to ensuring that the public has access to quality genetic services.

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