Guidelines Miss Hereditary Cancer in Men

By Sheila Scott 

A recent study published in JAMA Oncology found that 17 percent of patients with prostate cancer carried genetic mutations that are associated with increased risk of several types of cancer. The study, conducted by researchers at Tulane University Medical School and the genetic testing company Invitae, also found that the NCCN genetic testing guidelines for patients with prostate cancer in place at the time of the study missed a substantial number of patients with hereditary cancer gene mutations.

Missing Mutations in Men?

This study highlights a common problem: men are getting tested less often than women for hereditary cancer gene mutations, and there are a variety of misconceptions about hereditary cancer among men and their families.

Although men and women are equally likely to carry hereditary gene mutations linked to increased cancer risks, over 96% of patients undergoing hereditary cancer multi-gene panel testing (MGPT) are women.

Both men and women can pass these gene mutations on to their children, including both sons and daughters. Some misconceptions about hereditary cancer may stem from the heavy marketing focus surrounding breast cancer and BRCA gene mutations. For almost three decades, cancer awareness groups and consumer brands have used the color pink, a pink ribbon, and various feminine slogans as part of large scale campaigns surrounding breast cancer awareness. These massive campaigns have succeeded in removing much of the stigma that once surrounded breast cancer and conversations about it for women. However, they have also given many people the impression that breast cancer, and hereditary cancer in general, are “women’s problems.”

In fact, men can get breast cancer too. According to the American Cancer Society, around 268,600 women will be diagnosed with breast cancer in 2019, and around 2670 men will be diagnosed. Although breast cancer is rare in men, a BRCA1 or BRCA2 gene mutation can increase a man’s lifetime risk of breast cancer by 8 times the average risk.

The same inherited gene mutations that increase the risk for breast cancer in men and women can increase the risk for a variety of other cancers, including prostate and pancreatic cancer.  Although breast cancer awareness campaigns have made the BRCA mutations “the most famous” inherited gene mutations to the general public, there are many other hereditary gene mutations that can lead to increased risk for a variety of cancers, in both men and women.

Hereditary Cancer & Family

About 5-10 percent of cases of cancer are due to hereditary susceptibility; they are linked to a gene mutation that is passed down from parents to their children.

Clues to inherited cancer risk come from personal and family history, so it is important for patients to provide their doctor or genetic counselor with a detailed family history.

Since most inherited mutations related to increased cancer risk are can affect both men and women, both sides of the family (mother’s and father’s) are equally important.

The following details are also important for assessing cancer risk:

• How each person with a cancer diagnosis is related to the patient.
• The type of cancer or cancers each family member was diagnosed with.
• The age of each person when they were diagnosed.
• Any other risk factors for cancer (such as smoking for lung cancer.)
• Any family members who have tested positive for a gene mutation related to increased cancer risk (even if they have not been diagnosed with cancer.)

If a patient is interested in genetic testing, a detailed family history that includes this information will help doctors or genetic counselors make recommendations for appropriate clinical testing.

Patients might want to consider the potential impact of a positive test result on their family members, who may have the same mutation and may want to consider genetic testing or preventive care for themselves.

Early Detection is Key

For most cancers, the earlier the cancer is detected, the better the treatment outcome is likely to be. Men who have a hereditary gene mutation that increases their cancer risk may be advised to start early screening practices. These will depend on gene in which a mutation is found  and other factors. For example, NCCN screening guidelines for men with BRCA1 and BRCA2 mutations include breast self-exams starting at age 35, and clinical breast exams annually starting at age 35. Prostate cancer screenings beginning at age 45 are recommended for BRCA2 mutation carriers, and should be considered by BRCA1 carriers.

A patient’s personal and family history, as well as their genetic test results, will inform their doctors recommendations.

Knowledge is Power

For men concerned about their family history of cancer and their genetic risks, a meeting with a genetic counselor can be a helpful first step.

Genetic testing can be helpful, but may not be informative for everyone at every stage in life. In addition to helping a patient understand their genetic testing options, a genetic counselor will provide guidance on how testing may impact the patient and their family, so the patient can make an informed choice regarding testing.

Finding a Genetic Counselor

Your doctor may be able to refer you to a genetic counselor, but referrals are not necessary to schedule an appointment with a genetic counselor at Grey Genetics . Grey Genetics offers telehealth appointments with a network of Genetic Counselors, including several with expertise in cancer genetics.

For Patients

• Be an advocate for yourself and gather information about your family history. Make sure your doctors knows about your family history even if they don’t ask you for it. Ask about genetic testing options if your doctor doesn’t bring them up. Or take initiative and schedule a genetic counseling appointment for yourself.

For Healthcare Providers

• Make sure to gather a thorough family history for each patient since they may not bring it up on their own.
• If your practice is looking for support to make sure you are offering genetic testing to all appropriate patients, check out our services for healthcare providers.

Want more information? Listen to this Patient Stories Podcast with Harvey Singer and Vicki Wolf of HIS Breast Cancer.

Further Reading & Quality News Coverage

Kolata, Gina. “A Growing Disenchantment with ‘Pinkification.“ The New York Times, Oct 2015.
Nicolosi P, Ledet E, Yang S. “Prevalence of Germline Variants in Prostate Cancer and Implications for Current Genetic Testing Guidelines.“ JAMA Oncol. February 07, 2019.
Bowling, L. “Gender bias: Underdiagnosing hereditary cancer in men with prostate cancer.”
Journal of Clinical Oncology, 2016.
HIS Breast Cancer
Male Breast Cancer Coalition
NCCN Guidelines for risk management for men with BRCA mutations
“Family Cancer Syndromes.” The American Cancer Society. January 2018.