'Breast cancer genes' are a problem for men, too

Vicki Wolf was only 36 when she was first diagnosed with early-stage breast cancer.

After her third diagnosis 11 years later, the native Philadelphian had a genetic test that revealed what she dreaded and expected: She had inherited a mutation in a gene that made her susceptible to the disease.

She urged her brother, Harvey I. Singer, to get genetic testing and counseling, but he shrugged off the idea.

"I said, 'I'm a guy.' To me, breast cancer was just something women get," Singer recalled.

He soon learned he was wrong. His treatment for breast cancer in 2008 - and 18 months later, prostate cancer - turned him into an advocate for men with defects in BRCA1 or BRCA2, the so-called breast cancer genes. He and his sister founded HISbreastcancer.org (HIS happens to be his initials) to help men like him.

"I swore that when I got better, I'd make it easier for the next guy," said Singer, 59, who grew up in Northeast Philadelphia and now lives in Rochester, N.Y.

Twenty years after the watershed discoveries of BRCA1/2, men who carry one of the faulty genes are finally becoming a focus of research and support. In June, for example, FORCE, a nonprofit advocacy group for BRCA families, offered a variety of sessions devoted to men at its annual conference in Philadelphia.

Like women, males with BRCA mutations have elevated risks of several cancers, and they can take steps to be vigilant. Both men and women also have a 50-50 chance of passing on a mutation to a child.

But experts agree that men face bigger barriers to genetic testing and protective strategies than women - partly because of their own attitudes.

"It's very consistent with how men deal with health problems in general: denial," said Mary B. Daly, an oncologist and BRCA researcher at Fox Chase Cancer Center.

Echoed Singer, "Guys don't want to go to the doctor. If they do and hear something negative, they ignore it. I don't why we are that way, but we are."

Normally, BRCA1 and BRCA2 help suppress cancer by producing proteins that repair DNA damage in cells. When either gene loses this function by mutating, the protection is undermined.

Although most breast cancers are not hereditary, the peril for an individual woman with a mutation is huge: a 50 to 80 percent chance of breast cancer, and a 10 to 45 percent chance of ovarian cancer.

For men, the risk profile is less severe - one reason it hasn't gotten as much attention.

Male BRCA2 carriers, like Singer, have about a 25 percent lifetime chance of prostate cancer (although some studies estimate higher), compared with 16 percent for the average U.S. man - and mutation-driven malignancies often occur younger. BRCA1 mutations seem to increase prostate cancer risk slightly before age 65.

Both faulty genes raise men's breast cancer risk, with BRCA2 conferring a 7 percent lifetime chance. Normally, a man's risk is remote - one-tenth of a percent, or 1 in 1,000.

Both male and female mutation carriers also have higher risks of melanoma and pancreatic cancer, depending on which gene is mutated.

"Men very much matter in this equation," Jacquelyn Powers, a genetic counselor at the University of Pennsylvania, said during her FORCE conference presentation.

Dealing with this complicated cloud of threats isn't easy, especially for men. While women can evade cancer by removing healthy breasts and ovaries, men have no such preventive surgical options.

Here's what the National Comprehensive Cancer Network, an international alliance of cancer centers, recommends for men:

Prostate cancer screening with a clinical exam and PSA test annually starting at age 40

Regular breast self-exams, plus a physician breast exam every six to 12 months beginning at age 35.

Consider annual dermatology visits to check for skin cancer; experimental ultrasound exams to screen for pancreatic cancer; and annual mammograms if they have enough breast tissue to compress in the X-ray machine.

Earlier this year, the first international study to follow male BRCA carriers showed that PSA screening detects a high proportion of aggressive cancers that need treatment. (PSA screening in the general population is controversial because it leads to treatment of many harmless cancers.)

Singer, vice president of sales for a culinary clothing company, suggests another coping mechanism he that initially rejected: psychological counseling. It turned out that his fears, like the cancer that has chopped branches of his family tree, had deep roots.

"I'm named for my mother's brothers, who both died young of cancer," he said. "I had deep anxiety issues about being named after dead guys."

Experts also recommend that men from families with known mutations get tested around age 35, or earlier if they plan to start having children.

Surveys suggest that only 10 percent of men follow that advice.

In contrast, more than half of high-risk women do so.

"A lot of people don't think men are affected" by BRCA defects, said Daly at Fox Chase. "We constantly have to remind women, 'Don't forget about your fathers, sons, and brothers.' "

Another barrier: Many health insurers, including Medicare, won't pay for men to get the test, which can cost up to $3,000.

Then, there are the cultural obstacles. "Women have traditionally assumed responsibility . . . for communicating health information to the extended family," Daly wrote in a 2008 paper. "Women with mutations may preferentially interact with their female relatives because of closer emotional ties."

Men like Singer and his family are helping to break down the barriers.

Besides cofounding hisbreastcancer.org, Singer wrote a book, Sir, You Have Breast Cancer! to share his battle - including a mastectomy and chemotherapy - with a woman's disease.

Singer said his two sons, ages 31 and 29, intend to undergo genetic testing, as do Wolf's twin sons, age 29.

Wolf's oldest son, age 32, recently got wonderful test results: no mutation.

215-854-2720

@repopter