Men also need to worry about BRCA mutations

When Mary Claire King discovered the first gene associated with hereditary breast cancer in 1990she also needed to decide on a name for it. She settled on those four letters. BRCAthis had three different meanings. The name was in honor of the University of California, Berkeley, where Dr. King worked at the time. More to the point, it was a nod. paul brokera 19th century French physician and his achievements Establishment Association between family history and breast cancer. It was also an abbreviation for breast cancer.

A few years after Dr. King discovered BRCA1, a second BRCA gene, BRCA2, was identified. Together, these genes are now probably better known than any other, and their popularity is increasing due to research such as: amazing Impact on cancer risk. Awareness campaigns followed. 2013 new york times Editorial Angelina Jolie's article revealing that she had a preventive double mastectomy due to her BRCA mutation has inspired many women to take their own DNA tests. The BRCA gene has become closely associated with breasts, similar to the pink ribbon that has become an international symbol for breast cancer. And encouraging more women to find out if they have a BRCA mutation reduce Hereditary breast cancer risk.

But in the 30 years since the gene was discovered, scientists have learned that BRCA mutations can cause cancer of the ovaries, pancreas, and prostate. Recently, a connection with cancer has been pointed out. other parts of the bodyesophagus, etc. stomach, and skin. Any amount 60 percent of men Changes in BRCA2 cause prostate cancer, but men develop prostate cancer generally not well known More than women, they don't know that BRCA mutations can affect them at all.

“This is a branding issue,” Colin Pritchard, a professor of laboratory medicine and pathology at the University of Washington, told me. Men with a family history of breast cancer may not be aware that they need to be tested. Doctors too, lack of awareness Which men should be tested and what steps should be taken if a mutation is found. Pritchard and other researchers are now working to rebrand BRCA and related syndromes so more men and their doctors can consider testing.

Normally, the BRCA gene produces a protein that helps repair damaged DNA throughout the body. Most people with mutations that impair the function of a gene are diagnosed with hereditary breast and ovarian cancer syndrome. (Having HBOC does not mean that a person already has the disease; it means that they are at increased risk for cancer.) Most breast cancer cases have no genetic link. Not known, but nothing more. 60 percent of women Women with deleterious BRCA1 or BRCA2 mutations develop breast cancer, compared to about 13 percent of the female population. Of course, men can also get breast cancer, but rareamong BRCA mutation carriers.

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Pritchard said the full significance of the link between BRCA mutations and pancreatic and prostate cancer has only recently become clear, perhaps in the past decade. accurate risk These mutations that affect men vary widely between studies. But this is clearly important. Men with BRCA mutations are not only more likely to develop prostate cancer, they are also more likely to develop a more aggressive form of the disease.

Approximately 1 in 400 people have a harmful mutation in BRCA1 or BRCA2; half Among them are men. However, women are much more likely to have undergone mutation testing. 10 times According to one study, that's likely the case. “Beyoncé's father was the only man I've ever heard of who had this disease,” Christian Anderson, 46, a social science professor in Washington state who has a BRCA2 mutation, told me. Anderson was tested after his sister was diagnosed with breast cancer, but it goes undetected for countless men like him. just about half of Americans get a health exam every year, and their doctors not always conscious of BRCA screening recommendations For men. Many men who test for BRCA mutations report doing so for their daughters, and studies show they are more likely to test for BRCA mutations. confused About your own risk of developing cancer.

BRCA awareness campaigns have encouraged more women to get tested. In the two weeks since Angelina Jolie's op-ed went viral, researchers found The BRCA testing rate has increased by 65%. In that case, more people than necessary may be tested, but an increase in cancer screenings and elective surgical interventions generally helps. reduce Mortality rates from breast and ovarian cancer. Education about the link between genes and other cancers may have a similar effect on men. That's why Pritchard argued in a 2019 paper. nature Explanation The hereditary breast and ovarian cancer syndrome should be renamed King syndrome, after Mary Claire King. “We need to seriously rethink this if we're going to educate the public about the importance of these genes to cancer risk for everyone, not just women,” he told me.

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As we learned more about the risks of BRCA to men, Pritchard's thoughts became: catch. Professor King, now a professor of genomic science and medicine at the University of Washington, demurred when I asked whether the syndrome associated with the BRCA gene should be renamed after her, but the awareness campaign I agreed that it focused too narrowly on breasts and ovaries. . “We need men to have this awareness, just like we've had women for 30 years,” she told me.

It is unclear exactly how Pritchard's plan will be implemented. The gene name is international committee and Almost unchanged. That's part of the reason Pritchard suggests that name. syndrome Patients associated with BRCA mutations develop King syndrome, but there is no single governing body to oversee it. Recently, Clingen, an international group of researchers working to analyze the medical significance of genes, recommended that HBOC be renamed. BRCA-related cancer predisposition. (Pritchard told me he doesn't think this name is as “catchy” as King syndrome.)

Separating the syndrome associated with BRCA mutations from the breast may be just the first step toward getting more at-risk men screened for cancer. It would also be an important step in fully understanding how BRCA mutations affect men. Because fewer men than women have been tested for BRCA mutations, scientists don't yet fully understand men's risk. For example, Pritchard said it wasn't until attention was focused on BRCA risk in men that researchers discovered that the mutation was associated with particularly aggressive prostate cancer. Recent Penn Medicine launched A program specific to men and BRCA, with the aim of continuing this type of research.

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The name BRCA is a holdover from a time when scientists thought genetics offered an easy way to diagnose and treat disease. In other words, it was thought that one specific mutation would definitively indicate one specific cancer. But now, “the idea that genes only influence risk of one type of cancer is probably outdated,” Pritchard said. The more scientists study the human genome, the more complex its relationships to health become. It turns out that when genes don't work properly, the possible effects can be endless.