Why Men Should Be Screened for BRCA1/2 Variants

By: Celeste L. Dixon
Posted: Friday, August 16, 2024

More men should be tested for pathogenic variants of the BRCA1 and BRCA2 genes that significantly increase the risk of cancer—and it should be easier for men to be proactive about this as clinicians become more familiar with recently updated professional guidelines regarding such testing. In a JAMA Oncology article, Heather H. Cheng, MD, PhD, of Fred Hutchinson Cancer Center, Seattle, and colleagues emphasized that currently, men may know the gene variants are linked to female breast and ovarian cancers but may remain unaware of the evidence pointing to increased risks of prostate, pancreatic, and breast cancers in men. Half of inherited cancer-predisposing variants of BRCA1/2 are carried by men, but far fewer men than women are tested for their carrier status.

“Men who know they are carriers get tested for their daughters, but [they] don’t always know why it’s important for their own health,” said Dr. Cheng in an institutional press release.

Men can become involved in research and clinical trials to potentially foster early cancer detection and to have the opportunity to help reduce cancer risks for themselves, their families, and future generations of carriers of these genes, pointed out Dr. Cheng and co-investigators. But the place to start, they emphasized, is with “oncologists, internists, and primary care clinicians, [who] should be vigilant about offering appropriate genetic testing to males.”

Men who should receive such testing include those with a personal history of breast or pancreatic cancer or of high-risk localized prostate cancer, the authors listed. Men should also be tested based on a family history of any of the following: known BRCA1/2 pathogenic variant; any pancreatic cancer, especially exocrine pancreatic cancer in a first-degree relative; male breast cancer; high-risk localized prostate cancer; triple-negative breast cancer; breast cancer diagnosed before age 50; multiple primary breast cancers; ovarian cancer in first- or second-degree relatives; or Ashkenazi Jewish ancestry.

Disclosure: For full disclosures of the study authors, visit JAMANetwork.com.

JAMA Oncology

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