Why men should be screened for the ‘breast cancer gene’

New research shows that men can carry mutations in the BRCA1 and BRCA2 genes that increase their risk of several cancers, but new national guidelines are helping to educate patients.

Newly developed guidelines offer hope for identifying the cancer risk of BRCA mutations in men through genetic testing and tailored cancer screening, according to an article published last month in JAMA Oncology.

Identification of genetic risks can lead to tailored screening, finding cancers earlier and thus improve their chances for better cancer treatment outcomes. Male carriers of BRCA1/2 mutations are at higher risk of prostate, pancreatic, breast and other cancers over the course of their lifetimes. 

“Not enough men are getting genetic testing to see if they carry a BRCA1 or BRCA2 gene variant that increases their cancer risk," said Dr. Heather Cheng, director of the Fred Hutch Prostate Cancer Genetics Clinic, lead author. “And the men who know they are carriers get tested for their daughters, but don’t always know why it’s important for their own health.”

Little known facts of biological males carrying this gene variant include:

• Carrying a BRCA1 or BRCA2 mutation confers up to an 8.6-fold increased risk of developing prostate cancer, and up to an absolute lifetime risk of 60%, the study notes.
• For pancreatic cancer, the presence of BRCA1/2 mutation is implicated in up to a 7.8-fold increase in the risk of developing cancer, with the risk increasing significantly after age 50.
• Male breast cancer risk also increases for BRCA1/2 mutation carriers, with the risk of developing this otherwise relatively rare disease increasing to 7-9% from less than 0.02% in the general population.

The article reviews the most recent screening and treatment guidelines for men carrying an inherited damaging variant in two genes, BRCA1 and BRCA2, known to significantly increase the risk of breast cancer and ovarian cancers in women. 

For the purposes of the study, the term “males” applies to individuals assigned male sex at birth, regardless of gender identity. The study authors stress that all patients should work with their primary care providers to obtain appropriate individualized cancer screening based on sex-specific organs.

Despite the increased cancer risk for BRCA1 or BRCA2-carrying males, national guidelines on genetic testing and cancer screening have been slower to emerge for males. Physicians can help bridge the knowledge gap by encouraging their male patients to learn about their own family history with cancer, which can lead to the identification of risk factors and a recommendation for genetic testing.

“Half of the people who carry BRCA1 and BRCA2 mutations are males and may not know about it,” Cheng said. 

The most accurate type of genetic testing for medical purposes should be done via a saliva or blood test performed under the supervision of a genetics specialist or medical provider, Cheng noted. Patients should seek access to genetic counseling services delivered by a certified professional.

The paper’s coauthors were urologist Dr. Daniel Lin, geneticist Mary-Claire King, and pathologist Dr. Colin Pritchard, all of the University of Washington School of Medicine.

This work received funding from the National Cancer Institute, U.S. Department of Defense, the BRCA Research and Cure Alliance, the Men & BRCA Program at the Basser Center for BRCA, and the Pacific Northwest Prostate Cancer SPORE.

This release is a condensed version of an article written by Nicole Nazzaro of the Fred Hutch News Service.

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