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Published on October 10, 2018

Why Men Need to Pay Attention to BRCA Gene Mutations, Too

When she tested positive for the BRCA1 gene and publicly chose to undergo a preventative double mastectomy, Actress Angelina Jolie shined a light on BRCA genetic mutations which are associated with a higher risk of breast and ovarian cancer. Amid the controversy, Jolie penned an op-ed about her mother’s battle with ovarian cancer and outlined her personal experience with genetic testing and her surgery to mitigate her breast cancer risk.

This news prompted women with a family history of breast and ovarian cancer to seek out genetic counseling and testing in record numbers.  Turns out, men should have been listening, too-not just with interest for their mothers, wives and daughters-but for themselves and their sons.

“The BRCA1 and BRCA2 genetic mutations are inherited at the time of conception from either parent—mother or father—and can be passed down to both boys and girls,” said Meredith Kohn RN, MS, clinical nurse specialist and coordinator for the Cancer Risk Assessment and Clinical Cancer Genetics Program at the Sidney Kimmel Cancer Center at Abington – Jefferson Health. “The public widely understands that these mutations are linked to breast and ovarian cancer, but men should also be aware of their family history and what the presence of these mutations means for them.” 

In men, Kohn said the BRCA mutations are linked to an increased risk of the following cancers:

  • Prostate cancer
  • Male breast cancer
  • Pancreatic cancer
  • Melanoma

Children of men who carry a BRCA gene have a 50 percent chance of carrying the same mutation and the associated cancer risk, whether they are male or female.

Specifically, who is at risk?

Having a family member with any of the following cancers might be a sign there is a BRCA mutation in your family:

  • Ovarian or fallopian tube cancer at any age
  • Breast cancer at age 50 or younger
  • More than one breast cancer diagnosis
  • Both breast and ovarian cancers
  • Triple negative breast cancer
  • Eastern European (Ashkenazi) Jewish ancestry and a history of breast or ovarian cancer
  • Male breast cancer

Having more than one relative on the same side of the family with any of these cancers may also indicate that a BRCA mutation is present in your family:

  • Breast cancer
  • Ovarian or fallopian tube cancer
  • Prostate cancer
  • Pancreatic cancer
  • Melanoma

Men with a high grade prostate cancer (Gleason score of 7 or higher) or metastatic prostate cancer are also at risk for carrying the BRCA gene mutation.

Genetic Counseling and Testing: What's Involved?

Men with a strong family history of cancer should consider genetic counseling, says Kohn.  Genetic counselors spend their first counseling session gathering a thorough personal and family health history and looking for all instances of cancer and patterns of cancer in the family. Based on this information, the counselor will construct a family tree, also referred to as a pedigree.  Patients receive counseling about the potential benefits and limitations of genetic testing and how it may or may not be helpful. 

For patients who choose testing, the role of the genetic counselor is to order the appropriate tests and when the results come in, he or she will interpret them and provide guidance on how to manage an individual’s risk.  Patients may be referred to specialty physicians for further consultation.

Some people are reluctant to opt for testing because of the anxiety it creates. It’s important to note that not everyone who has a gene mutation gets cancer. “When a patient expresses fear about testing, we explain that information gained from genetic testing creates an opportunity to make informed decisions about managing an individual’s risk,” said Kohn.  “In the cancer center setting, those who come for counseling are often patients themselves, or family members of patients who see themselves as high risk,” said Kohn. “Self-identification and a desire to understand options is key.”

For more information about the Cancer Risk Assessment Program and Clinical Cancer Genetic Program at the Sidney Kimmel Cancer Center at Abington- Jefferson Health, call 215-481-2715.

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