Men and BRCA Genetic Testing

Are You a Man who Has Had Genetic Testing?

Men and women are diagnosed with cancer in pretty equal numbers. While most of us know about the BRCA gene mutations that increase a woman’s risk of developing breast and ovarian cancers, not everyone realizes that men can also carry one of these genes.

In the general population, women have about a 12% chance of developing breast cancer over a lifetime. Women who carry the BRCA1 gene have a 72% lifetime risk, and those with the BRCA2 gene have a 69% lifetime risk. For ovarian cancer, the general population lifetime risk is about 1.3%. For women with a positive BRCA1 gene, the lifetime risk is 44% while women with a BRCA2 gene have a 17% lifetime risk.

Women or men who have an Ashkenazi Jewish heritage are more at risk of carrying the gene, but others may have it, too. Surprisingly, there are other pockets of people at increased risk, including some Eskimo and Asian groups. Generally, people know about the incidence of breast or ovarian cancers in their families, but not always. For example, women who were adopted may know nothing about their genetic inheritance. Others have families who have been estranged or just distant from one another. Others come from families with few women, so they may not have first or second degree relatives who have had these diagnoses.

Men can carry the BRCA mutations, too. Just as women sometimes forget that they have an equal chance to inherit the mutation from their fathers or their mothers, many tend to overlook the 50% possibility that a male child of a mutation carrier may inherit the gene. To be clear, every child of a parent who carries a BRCA gene mutation has a 1 in 2 chance of inheriting the gene. What does this mean for men?

In addition to the possibility of passing on the gene to their children, these men have a 100% higher chance of developing breast cancer than other men and are at increased risk of often aggressive and early onset prostate cancer. They are also at increased risk of pancreatic cancer and melanoma. ­What should these men do about appropriate medical surveillance?

There are no established, widely accepted guidelines for men who carry a BRCA gene mutation as there are for women. Some groups recommend more frequent breast and prostate exams, but this is a conversation that needs to take place between a man and his doctor.  At BIDMC, experienced genetic counselors in the Cancer Genetics and Prevention Program are available to meet with men or women who are concerned about their risk.Meeting with a genetic counselor means having an extended conversation about family medical history, drawing a family tree and making the decision whether genetic testing is warranted. If it is, it is a simple blood test.

My goal in writing is to remind men from families affected by BRCA that it is wise for them, too, to consider testing. Not only will they gather information that will be important for their children, they also may learn more about themselves and their own health risks. As always, knowledge is power.