by Sue Friedman
Many people mistakenly believe that genetic testing for inherited mutations in BRCA1, BRCA2, Lynch Syndrome, and other genes is only appropriate for people with many cases of cancer in their family. National guidelines—based on the latest research—state otherwise. There are situations where a single case of cancer in a family is enough to prompt a referral to an expert known as a genetic counselor.
I have spoken to many people with cancer who are unaware of the ways that genetic testing might benefit them. When I gently suggest genetic counseling, I frequently hear, “I’ve already had cancer, how can testing help me now?” or “The cancer is only on my father’s side,” or the commonly cited, “Oh, I don’t need that, there really isn’t much cancer in my family.”
“Cancer Doesn’t Run in My Family”
Certainly, people with an extensive family history of cancer should consult with a genetics expert. However, in many circumstances, even one or two cases of cancer may be enough to meet national guidelines for genetic counseling and testing. For people who have already been diagnosed with cancer, their own diagnosis—even in the absence of other relatives with cancer—may be sufficient.
That was my personal experience. I was diagnosed “out of the blue” with breast cancer at age 33. I do not have a profound family history of cancer, but I also have a very small family. Fortunately, national guidelines account for these situations. They recommend genetic counseling for any woman diagnosed with breast cancer at age 50 or younger, even those with no other family history. Although my initial doctors did not mention genetic testing to me, I sought a second opinion at a comprehensive cancer center. They referred me to a genetic counselor who recommended testing. A month later, I was the first person in my family to test positive for a BRCA2 mutation. My father never would undergo genetic testing. However, the advanced prostate cancer that took his life many years later reinforced our suspicions that I inherited my mutation from him.
“Only Relatives on My Father’s Side Have Had Cancer”
Half of all mutation carriers for genes associated with adult-onset hereditary cancers are men. Men with a mutation in BRCA, or another gene associated with cancer have a high risk for cancer, but often their lifetime cancer risk is lower than women with the same mutation, and may come later in life. For this reason, families like mine—with a mutation passed down by the father—may not have a profound family history of cancer.
Common phrases and terms, such as referring to BRCA1 as the “Angelina Jolie gene” or referencing BRCA1 and BRCA2 as “breast cancer genes” reinforce the mistaken belief that men cannot carry or pass on inherited mutations. Even the term “Hereditary Breast and Ovarian Cancer Syndrome (HBOC);” used to describe BRCA, PALB2 and other related genes, dismisses the cancers associated with these genes that affect men, such pancreatic and prostate cancers.
National Guidelines
The National Comprehensive Cancer Network (NCCN)—a consortium of top experts—publishes consensus guidelines for genetic counseling, testing and risk management, which are updated annually. For many years, these guidelines have stated that every woman diagnosed with ovarian cancer—regardless of age or stage at diagnosis—should be referred for genetic counseling and testing. In recent updates, the national guidelines added recommendations that any person diagnosed with pancreatic cancer, male breast cancer or metastatic prostate cancer be referred for genetic counseling and testing.
Here is a partial list of situations where just one cancer diagnosis is enough to warrant a referral to a genetics expert:
- Breast cancer at any stage diagnosed at or before age 50
- A diagnosis of ovarian cancer at any age or stage
- Triple negative breast cancer (TNBC) diagnosed at age 60 or younger
- Male breast cancer at any age or stage
- Pancreatic cancer at any age or stage
- Metastatic prostate cancer at any age
- Metastatic breast cancer in people who might qualify for treatment with a PARP inhibitor
Other circumstances that warrant genetic counseling and testing include multiple cancer diagnoses in the same person, multiple members of the same side of the family diagnosed with cancer, and cancer in people of Ashkenazi Jewish descent.
Despite efforts to raise awareness of these guidelines, many people who could benefit are never referred for genetic counseling and testing. Additionally, even these comprehensive guidelines don’t identify everyone who carries a mutation. For this reason, some experts are proposing population-based genetic testing—where all people are offered testing regardless of personal or family history of cancer once they reach a certain age. A recent XRAYS article reviewed a research study that supports this approach.
Why It Matters
Genetic testing is a valuable tool that can help people with and without cancer make important medical decisions. For people who are newly-diagnosed with early-stage breast cancer, knowledge of having a mutation can impact decisions about breast surgery. For people with advanced breast and ovarian cancer, genetic test results may provide access to new agents called PARP inhibitors. Genetic testing may also qualify people for clinical trials for new drugs.
For those who have completed treatment for cancer and those who have never been diagnosed, genetic counseling and testing can provide information about risk for future cancers and open up options for early detection or prevention. It can help relatives understand and manage their risk for cancer, too.
Visit the FORCE website for more information on genetic counseling, testing and how to find a genetics expert. You can also speak to a trained peer support volunteer through our Peer Navigation Program.