Awareness of BRCA2 gene mutations in men becoming women

A recent case study in Endocrine-Related Cancer describes the case of a transgender woman developing breast cancer linked to a mutation in the BRCA2 gene. In this post Dr Adrian Daly talks about the potential implications of their findings – and what it could mean for screening techniques.

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Few medical issues have seen greater changes in public awareness recently than those related to transgender individuals.  Discussions around transgender identity were previously marginalized.

In contrast, today it is front and center in debates related to equality in many countries.  Along with the work of activists, the arts and media have played a central role in this radical change in openness regarding transgendered people and their experiences.  Leading characters in mainstream television drama are played by transgender actors such as Laverne Cox in Orange is the New Black, while popular series like Transparent have the transgender experience as the main theme of the show.

The real life experiences of gender transformation of the former Olympian and reality TV star Caitlyn (formerly Bruce) Jenner have been chronicled intimately. The upshot of this has been to dispel many taboos about discussing transgender related issues in the mainstream media.  This, in turn, improves awareness around these issues and how transgender is managed.

Endocrinologists play a key role in this specialized area of medical care.  Cross hormonal therapy is a cornerstone of gender transformation and is responsible for many desired changes sought by patients.  For male to female transformation, this involves taking doses of female hormones like estrogens and blocking male hormones with anti-androgen therapy.  This process leads to important physical changes like breast growth.

Hormonal therapy not only brings welcomed transformations but also changes in screening activities.  Male to female transgender individuals should learn and adopt breast examination and routine mammography similar to genetic females.  While male to female patients treated with hormones don’t appear to have an increased risk of breast cancer, there is a risk factor in this condition that might need better awareness in patients and doctors alike.

As published on 21 March 2016 in Endocrine-Related Cancer, a study involving the group of Prof. Albert Beckers at the University of Liège, Belgium described the case of a male to female transgender patient that developed breast cancer after 7 years of oestrogen and anti-androgen therapy.  The patient had to stop their hormone therapy and undergo surgery, but despite this, the cancer recurred and required chemotherapy.  Unbeknownst to the patient, multiple cousins had developed breast cancer and were found to have a mutation in the BRCA2 gene.

While the risks of cancer related to BRCA2 gene mutations have focused mainly on women, male mutation carriers are at greatly increased risk of male breast cancer and BRCA2 appears to act as a risk factor for prostate cancer, another hormone related tumor.  Indeed multiple members of the family also had developed prostate cancer.

“This very difficult case highlights two important points.”, said Dr. Vinciane Corman a lead author of the study. “Firstly, the awareness of family cancer risk due to BRCA2 gene mutations needs to involve both males and females, and families need to be thoroughly informed.  Information about a major risk factor like a BRCA2 mutation can lead to better decision making by potential carriers”.

She continued, “Secondly, the current cancer screening guidelines for BRCA2 mutation carriers have been written with the typical (or cisgendered) population in mind.  Due to greater openness about discussing transgendered individuals, future iterations of these guidelines might need to consider how best to manage these rare but difficult cases of BRCA2 mutation carriers that are considering being treated with cross sex hormones.”

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