Men with advanced prostate cancer may have been born with a faulty gene. Genetic testing is recommended. A Prostate Cancer Foundation (PCF)-funded project will make it easier for family members to get tested, too.
Janet Worthington
Writer, Prostate Cancer Foundation (PCF)
Prostate cancer oncologist Alexandra Sokolova tells a sobering story: One of her patients, Eddie, was diagnosed with metastatic prostate cancer, cancer that had spread outside the prostate. Sokolova tested Eddie’s inherited genes (called “germline genetic testing”) and discovered that Eddie was born with a faulty BRCA2 gene, a mutation most famous for raising the risk of breast and ovarian cancers.
Eddie said, “My sister has that.” One sister had been diagnosed with breast cancer years before. “All his sisters got germline genetic testing,” says Sokolova, “but he didn’t because he was a man.”
Eddie and his family didn’t think this gene was something he needed to worry about, and for many years, doctors didn’t think so, either. That changed in 2016 when a landmark study, funded largely by PCF, was published in the New England Journal of Medicine. An international team of investigators found germline mutations in 16 genes, including BRCA2, BRCA1, ATM, and CHEK2. These mutations were more common in men with metastatic prostate cancer than in men with localized disease.
However, even now, family members don’t always make the connection between having relatives with breast, ovarian, pancreatic, prostate, or other cancer and their own possible risk. If Eddie had known he was at higher risk, his prostate cancer might have been detected much earlier.
Helping high-risk patients and families
Sokolova thinks about Eddie a lot, and she has dedicated her career to helping high-risk patients and their families. The best help she can provide for patients like Eddie is to arm him and his family with information that could save their lives: to test men diagnosed with high-risk or metastatic prostate cancer and, if BRCA2 or a similar faulty gene is found, to do “cascade” testing, to test his immediate family.
An inherited cancer gene has a ripple effect. “If your mother had an inherited BRCA2 mutation, there is a 50% chance that you or your siblings inherited the same mutation, and a 25% chance that your children did. Just knowing you have such a gene mutation has significant implications for treatment decisions,” says Sokolova.
Sokolova also says you should consider germline genetic testing if you are diagnosed with prostate cancer that meets certain criteria, such as high-risk localized disease, metastatic prostate cancer, or if your pathology report shows evidence of intraductal carcinoma or cribriform glands, findings associated with more aggressive cancer. A family history of prostate, breast, and other types of cancer is a red flag, too. PCF offers a family tree tool to help collect this information.
Hoping to make it easier for families to get genetic testing, Sokolova has launched a PCF-funded project. “If you have prostate cancer and meet the eligibility criteria — a mutation in a DNA repair gene — then your first-degree family members (children, siblings, and parents) are eligible for free testing as part of the study,” says Sokolova. “To find out more, email [email protected]. Our goal is ultimately to improve cancer prevention in families with inherited cancer.” In other words, the goal is to not only to care for the patient, but for the whole family.
