Learning to live with the BRCA gene and what comes along with that gene in your life is a big task for anyone. But for me the biggest shock was realizing that this is not just a pink female thing. After all the breast cancer events I’d been to with my darling friend Helena and all our ‘pink’ crew – I hadn’t realized the implication of BRCA on males. But it was about to smack me in the face!
I originally tried to get tested for BRCA because my mum had experienced breast cancer twice, and we also had ovarian cancer on my grandmothers (maternal) side of the family. So I was pretty surprised to eventually find out the BRCA2 gene had actually been passed to me by my father who passed away in 1993 of stomach cancer. And around the time of my testing in 2015 my uncle (fathers side) was struggling with male breast cancer.
Then in 2016, not long after my own mastectomy, my brother was tested in Australia and confirmed he also has the family BRCA 2 gene. And I now know that my 4 year old son Carlo has a 50% chance of carrying the BRCA 2 gene, which weighs heavily on me as a mother.
So when I recently learned about this documentary Pink & Blue I was really excited about it. I’m really hoping this award winning doco will come to NZ soon so that more people can gain knowledge about BRCA and it’s affects on women and men!
I will keep you posted when I find out about screening. Watch this space…
More about Alan Blassberg the director here!
Soundcloud link to the documentary here!
And if you want to know more about BRCA1 & BRCA2 genetics, symptoms and treatments for men, check out the story below from this oncology nursing website.
I recall asking my mother’s oncologist in 1997, when BRCA gene testing was still in its infancy, about the possibility of testing her blood for this genetic mutation or freezing and storing her blood for future analysis. My mother was dying from recurrent metastatic breast cancer and, 5 years earlier, had been treated for primary ovarian cancer. As a family nurse practitioner, I was not only interested in this new testing for the sake of science but also personally concerned that my older sister, brother, and I might have inherited an increased risk of cancer associated with this genetic anomaly. My inquiry was dismissed with the nonchalant response that BRCA testing was just “too new to worry about right now.” In retrospect, a definitive result for my mother back then would have guided future healthcare recommendations for us.
After recently viewing the 2015 documentary Pink & Blue: Colors of Hereditary Cancer, I began to question why I had not sought genetic testing for the last 20 years. Pink & Blue not only educates the viewer about the BRCA gene mutations but also powerfully highlights the personal stories of both women and men with positive mutations, depicting their subsequent journeys, including treatment, restoration, remission, or death. The documentary advocates that “knowledge is power” and speaks passionately about the need for increased awareness of genetic testing and breast cancer prevention.
One goal of Pink & Blue is to raise awareness of male breast cancer. Despite the overwhelming “pinkness” of the breast cancer world, men inherit BRCA mutations as frequently as women do. Regardless of gender, a parent with an inherited mutation has a 50% chance of passing it on to each of their offspring, whether the baby is a girl or boy.1 It struck me that if I were BRCA-positive, even my son could have a genetic mutation that might be transmitted to his children someday.
Up to 10% of all breast cancers may be linked to genetic mutations, with BRCA1/2 being the most common.2 A woman with a BRCA1/2 genetic anomaly may have up to an 80% lifetime risk of developing breast cancer, as well as ovarian, colon, skin, and pancreatic cancers. Although breast cancer is rare in men, the American Cancer Society estimated that about 2470 new cases of male invasive breast cancer were diagnosed in 2017 and that about 460 men would die from the disease.3The average lifetime risk of breast cancer in men is about 1 in 1000 (0.1%) compared with 1 in 8 (about 12%) for women. A man with an abnormal BRCA2 gene has a lifetime breast cancer risk of about 8%, 80 times greater than that of the average man without a genetic mutation, and is 7 times more likely to develop prostate cancer than men without an abnormal gene.4 Although survival rates are similar for men and women with the same stage of breast cancer, men are often diagnosed at a later stage. This is often because men did not report early symptoms and/or the cancer spread to adjacent structures due to less breast tissue.5 Healthcare providers routinely document medical histories and cancer risk of their patients, but many do not always refer high-risk patients, including men, for genetic counseling or testing.
Genetic counseling and subsequent testing require serious consideration. Some individuals may not wish to have additional medical testing or recommended prophylactic surgery if faced with the knowledge of a positive result. Because genetic mutations affect all biological relatives, there may be emotional tension and fear within the family, factoring into decisions regarding marriage, childbearing, and career choices. Fear, hesitation, and doubt abound in the areas of employment discrimination; potentially higher health, life, and mortgage insurance rates; test reliability; and financial coverage for genetic testing. Individuals who may have positive genetic mutations might also experience feelings of guilt and loss of control. However, the federal Genetic Information Nondiscrimination Act of 2008, along with many state laws, prohibits discrimination based on genetic information in relation to health insurance and employment, although it does not cover life insurance, disability insurance, or long-term care insurance.6
In addition to films like Pink & Blue, many online resources address cancer risk. A risk calculator on Bright Pink, a national nonprofit organization (BrightPink.org), quickly provides information regarding the user’s chances of developing breast or ovarian cancer. The Male Breast Cancer Coalition, a nonprofit organization, reminds the public that “men have breasts, too” and offers a related series (HISbreastcancer.org). Both organizations add blue to the traditional pink ribbon to recognize breast cancer in both genders.
Today, I am bold enough to pursue genetic counseling and testing for not only BRCA1/2 but also the comprehensive 34-gene panel that may identify my risk of as many as 8 different cancers. My decision was based on neither my own 25 years’ experience and medical knowledge as a nurse practitioner nor my healthcare providers’ prompting. It was made after I viewed Pink & Blue and heard the powerful stories of people whose lives were positively changed by knowledge of their genetics. By taking the nonthreatening approach of consulting a genetic counselor, plus the simple act of sending out a freshly collected 1-cc sample of saliva, I will affect not only my health but also the well-being of my daughters, son, and grandchildren.
Some high-risk individuals might also be stirred to action by modalities such as film, social media, websites, and blogs. But why is it that we as healthcare providers do not consistently promote awareness of breast cancer risk to both women and men, as well as genetic counseling referral (when indicated) to our patients? When taking the family medical history, we all can address breast cancer risk, symptom recognition, and prevention. A caring, sensitive attitude is crucial to dispel myths and alleviate fears, especially those of a man who may feel emasculated by talk of self-breast exam, areolar masses, and nipple discharge. When indicated, providers must encourage patients with multiple breast cancer risk factors, regardless of gender, to consider genetic counseling and/or BRCA testing. For those who opt for testing, the results, whether negative or positive, not only deliver the power of knowledge but also afford healthcare providers the ability to make better management and treatment decisions.
Donna R. White, DNP, RN, CRNP, FNP-BC, is the director of graduate clinical faculty and clinical affairs at Duquesne University School of Nursing in Pittsburgh, PA.