NEW YORK (GenomeWeb) – Sitting in the waiting room at Cedars-Sinai's cancer institute in West Hollywood for his first breast check up, Alan Blassberg found it hard to answer some of the questions on the medical history questionnaire. He was a 42-year-old man holding a clipboard full of questions about periods and pregnancies. "Everything was pink," recalled Blassberg. The literature, flowers, paperwork, signs, and nearly the whole waiting room was pink. It was October, breast cancer awareness month, so everyone got pink balloons.
Blassberg, now 45, carriers a mutation in the BRCA2 gene. Inheriting a BRCA1 or BRCA2 gene mutation can increase a woman's lifetime risk of breast cancer up to 65 percent and of ovarian cancer by 40 percent. The incidence of male breast cancer in the general population is low — about one in 1,000 for men compared to one in eight for women develop the disease. But when men inherit a BRCA1 or BRCA2 mutation, their risk also increases, up to 1 percent or 6 percent, respectively.
By the time Blassberg ended up in the oncologist's waiting room, he knew he was at higher risk. He had lost a grandmother to breast cancer and an aunt to ovarian cancer. His sister, who had BRCA2-positive breast cancer, died in 2011. Based on the family history, Blassberg's other sister got genetic testing, and upon finding out she also had inherited the BRCA2 mutation, decided to undergo preventative surgeries.
Because Blassberg is also a mutation carrier, he is getting mammograms, or "manno-grams" as he likes to call them, every six months. But on that first visit, surrounded by all that pink, he tried to laugh off the nerves, joking with his girlfriend — a two-time breast cancer survivor — about his cycle and ice cream cravings. When the medical staff brought him into the examination in a round about way so he wouldn't bump into any women, he understood. When the nurse handed him a white robe with a huge pink ribbon, he quipped that white wasn't his color.
But then, in the examination room behind drawn curtains, he heard a physician's assistant almost call him Mrs. Blassberg by mistake. "For a second, I felt really emasculated and angry," he said. "What was I doing there?"
That experience inspired Blassberg to raise $75,500 in a month through a Kickstarter campaign and produce Pink and Blue, a documentary exploring how men and women BRCA mutation carriers are impacted by breast cancer. The movie, slated to premier mid-September, is one example of how men are starting to come forward to talk about their experiences with breast cancer, a disease that touches most men's lives through their mothers, wives, and daughters. Given the rarity of the disease, male breast cancer or BRCA-positive men, haven't received much attention from the medical community. Guidelines are sparse on how to treat male breast cancer and there aren't many research opportunities for men.
Although men have breast tissue and ducts, where cells can become cancerous, "we can't say the word 'breast,' or acknowledge male breast cancer, because that's how fickle our society is," Blassberg said. Due to embarrassment, social stigmas, or lack of awareness, most of the 2,300 men diagnosed with the disease every year and 440 who die from it, often learn the news too late.
While researching the experiences of male BRCA mutation carriers for the last four years, Boston College sociology professor Sharlene Hesse-Biber spoke to a man who discovered he had breast cancer when one day his chest started bleeding from a long-ignored lump. She has heard of doctors telling male patients there's nothing to worry about despite the lump on their chest. "Now compare that to a woman showing a lump to her doctor," said Hesse-Biber, who is in Pink and Blue. Blassberg said he has also participated in her study on male BRCA mutation carriers.
Hesse-Biber began investigating the experiences of men after the women BRCA mutation carriers she was interviewing for a book kept telling her to talk to the men in their families. These women had tried to tell their male relations that BRCA testing could be meaningful for their health and their children's. "But he won't talk to us," the women would tell Hesse-Biber. "He doesn't want to get tested. He's not worried about it. He doesn't think men can get this mutation."
It took Hesse-Biber two years to find the first man who would speak to her. When she started the project around 2011, it was hard to get the word out, Hesse-Biber recalled, since there weren't many websites for men who had hereditary cancer and even less resources for men who had breast cancer. "You had a medical establishment that didn't think men could get breast cancer … [and] the pink ribbon culture didn't recognize that men could get breast cancer," she said.
Growing awareness
In recent years, Hesse-Biber has had an easier time finding men for her study through social media and organizations such as the Male Breast Cancer Coalition, which has a half-pink-and-blue logo and features stories and pictures of survivors on its website. Men are posting pictures of their scarred chests on social media and engaging in education campaigns on Twitter using the hashtag #MenHaveBreastsToo. Avon's Walk to End Breast Cancer includes information on female and male breast cancer, and last week, male BRCA mutation carriers, cancer patients, and survivors attended the annual meeting of the patient advocacy group Facing Our Risk for Cancer Empowered (FORCE).
With growing awareness, Hesse-Biber has been able to interview 50 men and survey around 150 in four years. After they complete the online survey, men can leave their contact information for an in-depth interview. Many still choose not to, Hesse-Biber said, but with the information she has collected she now is in the process of writing several papers comparing the experiences of men and women BRCA carriers, and on how motivations and attitudes among men differ based on characteristics, such as age.
Her research has revealed that concern for family is a big reason for both men and women to get tested, but they tend to think about risk differently. "Women don't want to die," Hesse-Biber said. "When women find out they have a BRCA mutation, they think I have to get my breasts removed or my ovaries out because I'm going to die. They overestimate their risk of dying from hereditary cancer."
A preview for the Pink and Blue movie features a 20-year-old woman who chose to have a prophylactic bilateral mastectomy. "I feel like there's a bomb attached to my body. And tomorrow that bomb will be dismantled," she said. "That's the only analogy I can use to portray what I feel and how strongly I feel about this."
In contrast, male mutation carriers don't talk or think about risk the same way, according Hesse-Biber's research. If they get BRCA testing, it's an average 10 years later than women do, she said.
David Dessert, 52, a retired systems engineer, had an aunt with ovarian cancer who was BRCA2 positive, and his father also turned out to be a carrier. So, in 2010, when Dessert started having back and stomach pains, he told his doctors to screen him for various cancers as if he had a mutation. But he didn't actually get tested. "If I am not going to do anything different based on the outcome of the test, there was no point in taking it," he told GenomeWeb from the FORCE annual meeting in Philadelphia. "I was going to do the surveillance as if I had the gene."
Dessert finally got tested at University of Texas MD Anderson Cancer Center in 2011, after he was diagnosed with pancreatic cancer. A paper published at the time had shown that a pancreatic cancer patient with a BRCA2 mutation had experienced a complete response with gemcitabine cisplatin. Dessert got tested, found he was positive for a BRCA2 mutation, and received the treatment. The therapy shrunk his tumor to the size of a pea, so he could get surgery in 2012, and he has been cancer free since.
Around 5 percent of pancreatic cancer patients live for five years after diagnosis. Dessert is taking online bio-statistics courses with Johns Hopkins University, which he said helps him think in terms of the probabilities of ways his situation can play out. It helps take "emotion out of it," he said, because "the emotional response is not always the best response."
The National Comprehensive Cancer Network recommends male BRCA mutation carriers examine themselves monthly, get routine breast examinations, perhaps even a mammogram. Although recent studies suggest that mutation carriers can have higher risks for other malignancies, such as prostate cancer, none of Dessert's doctors really connected BRCA to pancreatic cancer until he came to MD Anderson.
"I didn't have breast cancer, and that was essentially the end of if it," he said. He now moderates an online forum for pancreatic cancer patients. "I try to keep an eye out for people who might have these BRCA mutations like I did."
Even if male carriers don't develop cancer, their daughters and sons can have a 50 percent chance of inheriting the faulty BRCA variation, which increases their risks for malignancies and can be important information when they start their own families. Hesse-Biber's research suggests that male and female BRCA mutation carriers are more likely to get their daughters genetically tested but not so much their sons.
Of Dessert's two sons, a 19-year old and a 17-year old, the younger wants to be tested later this year, the oldest hasn't expressed an interest. "He wouldn't talk to me about it as much as his mother," he said.
In the future, with all the new screening tools and treatments coming out, Dessert is hopeful that his sons, even if they inherit a mutation, won't have to worry about cancer risk the same way. "I don't think 20 years from now, the risk situation is going to be as it is today," he said.
Even if some men want to get proactively tested for BRCA mutations based on their family's cancer history, Blassberg has spoken to men who couldn't get enough information from their relatives to convince their insurance carrier to pay for the assessment. Many insurers want to see evidence of a family history of cancer or a close relative who is a BRCA carrier. If the mutation is inherited from a male relative, however, chances are he wasn't tested.
The Centers for Medicare & Medicaid Services in May issued a draft local coverage determination for tests analyzing BRCA genes, laying out a long list of medical and family history circumstances under which the agency would pay for testing. The agency also points out in the draft document that the Affordable Care Act requires private insurers to provide coverage for medically necessary genetic counseling and testing as a preventative service with no out-of-pocket cost.
The price tag for BRCA diagnostics can be as high as $4,000 depending on the type of test, and without insurance coverage, many men couldn't afford testing. "But now there are companies like Color Genomics that are selling BRCA testing for $250," Blassberg said. Othman Laraki, co-founder of Color Genomics, is a BRCA2 carrier and has a family history of breast cancer.
It took his sister's death for Blassberg's family to become more knowledgeable about BRCA mutations and hereditary cancer. With Pink and Blue, which will be shown at 30 screenings around the country in the fall, Blassberg hopes to educate others before their families are devastated by cancer.
"Every cancer journey is different," he said. "We just want people to make informed decisions. We want to attract people to the conversation and let them know that men can carry the [BRCA] mutation just like women can."