Originally published 6/19/2018
For years there was a gender-related gap in cancer risks related to mutations in the breast cancer (BCa) genes BRCA1 and BRCA2. Research was primarily focused on women due to the incidence of BCa among them. That is now rapidly changing, thanks to the work of science centers like the Basser Center for BRCA at Penn Medicine. In a May 2, 2023 blog post, the writers identify three points men should be aware of:
- Compared to a 14% average life risk of developing prostate cancer (PCa), men who carry either mutation the risk escalates up to 25-50%, and they may develop more aggressive disease.
- Review your family history of cancer, especially any close female relatives who were diagnosed with BCa before age 50 or who had ovarian cancer. Consider getting genetic testing for yourself.
- If you test positive for a BRCA1 or BRCA2 mutation, your doctor can help you develop a personalized risk management program, with tailored screenings beginning at age 35.
The key to protecting yourself is knowing your family cancer history. As a 1955 public service announcement reminds everyone, “The life you save may be your own.”
In 1576, British author George Pettie penned, “So long as I know it not, it hurteth me not.” In other words, what I don’t know won’t hurt me – an idea that clearly has been around for at least 500 years. When it comes to genetics, however, what you don’t know can sometimes kill you.
Genes contain codes that determine what characterizes one person from another. They are inherited from your parents as well as other ancestors. When the codes are organized as nature intended, a person is born with normal traits. However, genes can mutate (change) in ways that lead to abnormal traits or vulnerabilities. For example, everyone has two genes called BRCA1 and BRCA2. Certain inheritable mutations in either of those genes dramatically increase the chances of breast cancer in women, and prostate cancer in men.
Knowledge is power. Studies have demonstrated that individuals who have at least a college degree beyond high school make healthier choices and tend to live longer, on average, than less educated people. Knowing about your health risks, and taking preventive action, can make a difference between a life with chronic disease like diabetes or cardiovascular disease vs. enjoying vigorous health and energy. One of the most dramatic examples of preventive action was the public announcement by actress Angelina Jolie that she underwent an elective double mastectomy (removal of both breasts) because she was a carrier of the BRCA1 mutation which meant she had an 87% chance of developing breast cancer! Her courageous example raised awareness among women with a history of breast cancer in their families to take advantage of genetic testing. Yet it didn’t seem to carry over to prostate cancer in a similar way.
A new study by Cui, et al. (March, 2017)[i] is a wake-up call to men who are carriers of at least one of the two mutations most associated with breast cancer. For carriers of the BRCA2 gene mutation, the authors assembled compelling data on both cancer-specific survival and overall survival (from all causes, not just cancer). They gathered the statistics by searching four publication library databases. They consistently found two trends:
- Compared with non-carriers of the BRCA2 mutation, carriers had reduced cancer specific survival rates, and lower overall survival rates.
- Prostate cancer patients with the mutation tended to have more aggressive disease (Gleason score greater than 7) and Stage T3 or later upon diagnosis, therefore in a higher risk group.
In a truly sobering conclusion, the authors found that “a BRCA2 mutation predicted poor survival outcomes in patients with prostate cancer, especially in those undergoing treatments with radiotherapy.”
Action steps
This is very important men’s health news. However, health knowledge without a plan of action is close to useless. I recommend the following:
- If you have a family history, especially first degree relatives (mother, father, sibling, child) who were diagnosed with breast or prostate cancer, request a genetic test to find out if you are a carrier of BRCA1 or BRCA2 mutation, or both.
- If you carry the mutation, don’t panic. Instead, have a multiparametric MRI (mpMRI) of the prostate (with and without contrast) to establish a baseline. If possible, have it done at an expert facility with a 3T magnet for best imaging results. Have it interpreted by at least one experienced reader in addition to the radiologist who generates the initial report. Many authoritative radiologists will provide a second opinion at no cost other than your expense for shipping them your image CD – so remember to request at least 2 extra CDs of your images.
- If you are a carrier, commit to a more frequent protocol of PSA testing, and keep a copy of your results for your own reference. While the first PSA may be low-to-normal for your age and risk factors, any rise in PSA may warrant having a repeat mpMRI as soon as possible.
Perhaps most important is answering the question: Do you want to know if you carry the mutation? Now that there is an accurate way to find out, there are many men who simply won’t want to take advantage of it. It’s a deeply personal decision, but a point in favor of being tested is that with the combination of PSA testing and mpMRI imaging, an aggressive tumor can be found while it is early, small, and still contained in the gland. Note that based on the above research, radiation may not be the most advantageous treatment, since radiation patients with the BRCA2 mutation had the lowest survival rates.
It can be scary to shake hands with factual information about one’s health, but as the saying goes, forewarned is forearmed. Especially when it comes to prostate cancer.
[i] Cui M, Gao XS, GU X, Guo W et al. BRCA2 mutations should be screened early and routinely as markers of poor prognosis: evidence from 8,988 patients with prostate cancer. Oncotarget. 2017 Mar 30. doi: 10.18632/oncotarget.16712. [Epub ahead of print]
About Dr. Dan Sperling
Dan Sperling, MD, DABR, is a board certified radiologist who is globally recognized as a leader in multiparametric MRI for the detection and diagnosis of a range of disease conditions. As Medical Director of the Sperling Prostate Center, Sperling Medical Group and Sperling Neurosurgery Associates, he and his team are on the leading edge of significant change in medical practice. He is the co-author of the new patient book Redefining Prostate Cancer, and is a contributing author on over 25 published studies. For more information, contact the Sperling Prostate Center.
