New Study Suggests Irregular BRCA Genes Are Associated With More Than Breast Cancers

If you typically think of BRCA gene mutations along with certain breast and ovarian cancers, no one would blame you. The abbreviation actually stands for "Breast Cancer gene." Everyone has BRCA1 and BRCA2 genes, but only some have mutations in those genes. For instance, approximately 1 in every 500 women in the United States has a BRCA1 or BRCA2 mutation, and 50 out of that 100 will get breast cancer by the time they turn 70 years old, according to the Centers for Disease Control and Prevention (CDC).

Even though BRCA mutations are most often associated with breast and ovarian cancer, there's some evidence that these irregular genes are actually linked to other types of cancers. A study published in the Journal of Clinical Oncology, analyzed data from 3,184 people with BRCA1 mutations and 2,157 people with BRCA2 mutations to estimate the risk of developing one of 22 different cancers. The researchers found that people who carried BRCA1 mutations had a 0.4 percent risk of developing male breast cancer and a 2.5 percent risk of developing pancreatic cancer. Those who had the BRCA2 genetic mutation had a 2.5 percent risk of developing pancreatic cancer and a 27 percent prostate cancer risk. Overall, the researchers found that having a BRCA1 and BRCA2 mutation raises a person’s risk of breast and ovarian cancers, along with male breast, pancreatic, stomach, and prostate cancers. These findings, the authors argued, “will improve the cancer risk management for men and women” with BRCA gene mutations.

This isn’t the first time BRCA gene mutations have been linked to forms of cancer outside of breast and ovarian. Research has connected prostatepancreatic, and male breast cancers with BRCA gene mutations for years. But study co-author Antonis Antoniou, PhD, professor of cancer risk prediction at the University of Cambridge, says that previous studies that explored the link between other forms of cancer and BRCA gene mutations “had small sample sizes and provided imprecise estimates of cancer risk.” As a result, Dr. Antoniou says, “there has been uncertainty on the links with other cancers." He adds that having accurate risk estimates is critical for counseling patients on prevention and screening.

How BRCA gene mutations lead to pancreatic, prostate, and other cancers

As a whole, your BRCA1 and BCA2 genes help your cells to grow normally by repairing damaged DNA, explains Jack Jacoub, MD, medical oncologist and medical director of MemorialCare Cancer Institute at Orange Coast Medical Center in Fountain Valley, California. But BRCA gene mutations “are DNA damage,” and can interfere with this process, he says.

BRCA genes are “what we call tumor-suppressor genes,” Dr. Antoniou says. “When faults occur in these genes, this mechanism is disrupted and tumors are more likely to form in certain body tissues,” he adds. Depending on the type of BRCA gene mutation you have—if any—it could impact your risk of developing cancer.

What to do if you have a BRCA mutation in your family 

You may not know if you have a BRCA gene mutation in your family, but Dr. Jacoub says it’s “suspicious” if there's a family history of developing cancer at a young age or more than one family member has dealt with the same type of cancer.

“If you already know you have a BRCA gene mutation, you should definitely be screened accordingly,” says Leigha Senter-Jamieson, MS, CGC, a licensed genetic counselor with The Ohio State University Comprehensive Cancer Center-Arthur G. James Cancer Hospital and Richard J. Solove Research Institute. “This includes prostate screening and pancreatic cancer screening if you have a mutation and also a family history of prostate cancer.”

But “currently, it is not universally recommended for men in the United States to have prostate cancer screening,” says Patrick Pilie, MD, a medical oncologist at The University of Texas MD Anderson Cancer Center. This, he says, is why it’s important for men with a family history of prostate cancer or other hereditary breast and ovarian cancers to talk to their doctors and get screened for prostate cancer. “Clinical research is ongoing to improve prostate cancer screening tools in men with high-risk hereditary gene mutations like BRCA2,” Dr. Pilie says.

Genetic testing used to be expensive and not attainable for everyone, but Senter-Jamieson says it’s “actually pretty affordable these days.”  Adding that if you meet the testing criteria, it's often covered by an insurance company (along with genetic counseling. “Genetic counseling is also offered by some of the testing laboratories as part of your testing process.” (If you don’t meet the testing criteria but are concerned about your genetic risk of developing cancer, Dr. Jacoub recommends talking to your doctor about your options.)

The best thing to do if you suspect that you need genetic testing, Dr. Jacoub says, is to talk to your doctor about your family history of cancer and discuss your options from there. If you have a family member who has been diagnosed with cancer in the past few years, they should have undergone genetic testing as part of their diagnosis and treatment, Jacoub says. “They should be able to tell you the genetic mutation that is linked to their cancer,” he says. Knowing that information can also help you and your doctor make informed decisions about next steps for your health.

“Knowing your family history and undergoing genetic counseling and testing, can you help to make informed decisions about your health,” Senter-Jamieson says. “If you know that you have a higher chance of developing cancer, there are steps you can take to reduce your risk [or] to catch things early.”


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