Men with Genetic Mutations: What You Need to Know


A genetic counselor discussed the various hereditary breast and ovarian cancer syndrome-associated cancers among men and how to manage them at the FORCE Annual Meeting.

Cancer risk and management of men with genetic mutations is not focused on nearly enough, according to Rachel Shapira, Sc.M., LCGC.

“Part of the problem is it is really easy to get caught up thinking about all of the risks for women because there is a lot we have to think about … but it doesn’t mean that there aren’t increased risks and changes in management for men as well,” she said during a presentation at the 11th Annual Joining FORCEs Against Hereditary Cancer Conference in San Diego.

At the conference, hosted in partnership with City of Hope, Shapira, who is a genetic counselor at UCLA Health, discussed the various hereditary breast and ovarian cancer syndrome (HBOC)-associated cancers found among men — BRCA1, BRCA2, ATM, BRIP1, CHEK2, NBN and PALB2 —and hereditary conditions such as Lynch, Li-Fraumeni, Cowden and Peutz-Jeghers syndromes.

Prostate Cancer

One in nine men will be diagnosed with prostate cancer in his lifetime, and with that, the risks for those with a genetic mutation are only considered “elevated” with no real percentages associated with said risk. “The data gets a little bit fuzzy for a lot of these genes … and we often don’t have very good numbers to attach to it, which can make it a little bit challenging to talk about it,” Shapira said.

To screen for prostate cancer, men may undergo prostate specific antigen (PSA) blood tests that measure the level of the protein produced by the prostate gland. High levels of this protein may be indicative of prostate cancer that requires treatment; however, they may also reflect benign conditions and could result in the potential of overtreatment. In addition, men can undergo a digital rectal exam to feel for any abnormalities.

Screening guidelines differ for men who carry genetic mutations compared with the general public, where, for the most part, it is recommended for physicians to consider screening men with the BRCA1 or BRCA2 mutations at the age of 45. In addition, for men with HBOC moderate risk genes, there are no recommendations, with an emphasis on the word yet, Shapira said.

“I have the feeling it will be coming,” she added.

Pancreatic Cancer

Pancreatic cancer is lower on the list when it comes to the most common types of cancer associated with HBOC; however, the number of individuals diagnosed and those who die from the disease are unfortunately comparable. “We have not figured out early detection,” Shapira said.

To screen for this disease, individuals can undergo an endoscopic ultrasound, which may include a fine needle aspiration, as well as an MRI or magnetic resonance cholangiopancreatography — a type of MRI that provides detailed images of the bile ducts and the pancreatic duct.

No specific guidelines exist for individuals at risk for pancreatic cancer; however, the International Cancer of the Pancreas Screening Consortium has offered its own recommendations to determine candidates for screening, a schedule and the different modalities.

“Screening is recommended for high-risk individuals, but more evidence is needed, particularly for how to manage patients with detected lesions,” the consortium states. “Screening and management should take place at high-volume centers with multidisciplinary teams, preferably within research protocols.”

Shapira noted that these guidelines are still limited. “We don’t have a lot of evidence that the screening is effective, and that is one of the reasons it is not recommended in the general population,” she added. “We have these screenings that are either invasive or expensive, or both, and we don’t have evidence that they detect cancer when it is early and treatable.”

Male Breast Cancer

One in every 1,000 man has the chance to be diagnosed with breast cancer, and naturally, that risk is increased among men who harbor the BRCA1 or BRCA2 mutations. But despite this risk, the overall risk is generally still low, Shapira noted.

“If you think about the magnitude, it’s really dramatic the difference between 0.1 percent and 8 percent. At the same time, instead of thinking about how much the risk is increased, if you think about it as just an objective number, the risks for men are still relatively low in the grand scheme of things — less than the risk of the average woman,” she said. “And so, I think when we think about screening and recommendations for men, that is part of what plays into it.”

With that, there are no screening tools available for men, whereas women have self and clinical breast exams and mammograms. Because of this, it is important for men with genetic mutations to be aware of conducting breast self-exams and visiting a doctor annually for a clinical exam, both starting at the age of 35.


Although various genetic mutations are associated with melanoma, it is difficult to determine how much of an increased risk men and women are at for being diagnosed with the disease, especially because it varies significantly by race and ethnicity.

The good news about melanoma: “We can see our skin!” Shapira said excitedly. “So, the best screening tool that we have is eyeballs.”

In addition, Shapira mentions the ABC’s of self-conducted melanoma screening:

  • Asymmetry: the two halves of the mole do not match
  • Borders: the edges are triangular or uneven
  • Color: multiple or changing shades of brown, tan, black, red, blue or pink are present
  • Diameter: usually, but not always, larger than 6 mm
  • Evolution: changes in appearance, such as size, shape or color and/or changes in symptoms, such as bleeding, oozing or itching.

Colon Cancer

As one of the most recent guidelines changes, the American Cancer Society now recommends that individuals who are at average risk for colon cancer should start to be screened at the age of 45.

Tools these individuals can use include stool-based tests or visual (structural) exams of the colon and rectum, which includes a colonoscopy every 10 years and a CT colonography or flexible sigmoidoscopy every five years.

“A colonoscopy can prevent cancer. What that means is if they find a precancerous polyp, you have just prevented cancer. It’s the only cancer screening that is also a prevention,” Shapira said.

She concluded with a message for patients, caregivers and physicians: “We need to educate bit by bit.”

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