BRCA mutation increases breast cancer risk in men

GILLIAN KLAWANSKY

Both genders also face increased risk of gall bladder and bile duct cancer, stomach cancer, and malignant melanomas. “BRCA1 and 2 gene mutations are not restricted to women, and they’re not restricted to breast cancer,” says Professor Bernardo Leon Rapoport, a specialist physician and medical oncologist in-charge of The Medical Oncology Centre of Rosebank and extraordinary professor at the department of immunology, faculty of health sciences, University of Pretoria.

In a study conducted at the Rabin Medical Center in Israel, a centre dedicated to men with BRCA mutations, it was found that men with these mutations developed eight times as many cancers as would have been expected in the general population.

“There is a misconception that men can’t get breast cancer,” says Johannesburg-based genetic counsellor, Kara Stoler, who also works at the Malka Ella Fertility Fund. “But they’re also at risk. Men should do breast examinations, and any concerns need to be investigated.

“BRCA2 cancers are more commonly associated with men,” says Professor Carol Ann Benn, a South African expert on breast cancer.

“It’s also important for men to test, because if they are carriers of a cancer gene, their children are then at risk,” says Stoler. The same BRCA gene test – done via blood or saliva – is used for men and women. The test is now more accessible as costs have decreased over the past few years, says Rapoport. “You test once in your lifetime. Only Ashkenazi Jews with a history of cancer in their families are advised to be tested for the gene.”

A male medical doctor in the community, who wishes to remain anonymous, tested positive for the BRCA gene a few years ago. “Virtually from childhood, I’d known about aunts who had had breast and ovarian cancer,” he recalls. “One of my cousins who was much older than me had practiced as a doctor in America. He wrote to us to say that you can now do a gene test, and that we should do it. The question was when.

“I have daughters, and told them we needed to be tested because my mother had died young of breast cancer which meant she probably had the gene. But I told them to wait until after they’d finished having their families.”

This is because once you determine that you are a carrier, depending on which guidelines you follow, you may decide to have a hysterectomy and bilateral salpingo-oophorectomy (the removal of the ovaries, uterus, and fallopian tubes) and a mastectomy to mitigate your ovarian and breast-cancer risks.

For men who test positive, there are also significant risks to consider. The lifetime risk of breast cancer for an average man is extremely remote – a hundred times less than the average woman. Yet these risks increase if they test positive for the BRCA gene mutation – at up to 8.9% for those with a BRCA2 mutation, and up to 1% for those with a BRCA1 mutation.

Men who test positive for either gene also face a 20% lifetime risk of developing prostate cancer. While there are no preventative operations for men with BRCA gene mutations, they do need to be screened regularly for breast and prostate cancer via mammograms from the age of 35 and prostate checks from between 40 to 45 years old annually or every six months. There are also constant advancements in the use of PARP inhibitors. This is a new class of cancer drugs, a targeted therapy that is particularly effective for patients with BRCA mutations, says Rapoport.

“The older you get, the greater your risk of prostate cancer and the lower your risk of breast cancer,” says the doctor. “Initially, I screened vigilantly for prostate cancer but as I’ve got older, I’ve been a bit remiss. If I had to give advice, I’d say go to a urologist frequently to have your PSA (prostate specific antibodies) levels tested.”

Your PSA levels are raised when there is an infection or you’ve recently had sexual intercourse. Yet, if those factors are ruled out, it can indicate cancer. Cancer cannot be diagnosed through the test alone, however. “You’ve got to be examined, the doctor has to feel and ultrasound your prostate to see if it’s enlarged. If there’s any worry, then a biopsy is needed.

“It’s a dominant inheritance, so you need only one parent to be a carrier to potentially pass it on to your children, male or female,” says the doctor. I’m positive, and both my daughters are carriers. I was tested because I needed to know for them, I didn’t want to know for myself. If not for you, you’ve got to do it for your children and your children’s children.”

The doctor stresses the importance of proper counselling before being tested, and before and after receiving your results. “We were counselled properly throughout by a professor of genetics who I know well. It was quite a shock that all three of us were carriers.”

There’s a lack of awareness when it comes to testing men, he says. “When I tell people with a family history to check their children, they say ‘but not my boys’. You have to check boys and girls – but only once they’re old enough to get tested – in their late teens or 20s.”

“Male breast cancer in the family is highly indicative of there being a BRCA-gene mutation,” says the doctor. “With prostate cancer, even if it affected only previous generations, you need to be checked.” According to the World Journal of Oncology, prostate cancer is the second most frequent cancer diagnosis in men globally after lung cancer. In 2018, it caused 3.8% of all cancer deaths in men. Prostate cancer is also the fifth leading cause of death worldwide.

The emotional toll that a positive BRCA gene mutation test takes is undeniable. “It’s difficult to explain that you feel guilty, even though as a carrier you’ve done nothing wrong,” says the doctor. “But I feel a great sense of guilt. It’s caused a lot of heartache, and I’m sure it’s going to cause heartache in the future. But you can do something about it. Treatment is much better than it was ten or even five years ago. You just need to consult the right medical professionals.”