My mother and I have been identified as having a BRCA1 gene mutation, should my brother get screened? Is he at risk for breast cancer?

If both you and your mother have been identified as carrying the same BRCA1 mutation, and your brother has the same mother as you, your brother has a 50% chance to inherit, or not inherit, the same BRCA1 mutation. Your brother should first be offered the option of genetic counseling with a qualified genetics healthcare professional so he can make an informed decision about genetic testing.

After genetic counseling, if your brother opts to proceed with genetic testing and is found to carry the BRCA1 mutation, he would be at increased risk for breast, prostate, and pancreatic cancer. Some studies suggest that there is also an increased risk for colorectal cancer and melanoma for those who carry a BRCA mutation.

To manage their cancer risk, BRCA1 or BRCA2 mutation carriers should be referred by a qualified genetics professional to the appropriate medical specialists. Some cancer-risk may be amenable to risk reduction options; others, more toward early detection. Knowledge about increased screening and cancer risk-reduction options can give mutation carriers feelings of increased control and empowerment.

It’s important to remember that when a BRCA-mutation is identified in a family, close family members (brothers, sisters, parents, children, nieces, nephews, aunts, uncles, grandparents, first cousins) should be medically managed (short of surgical intervention) and screened as though they carry the mutation until genetic testing might prove otherwise. A qualified genetics professional would review these medical management strategies at the time of genetic counseling and also facilitate appropriate referrals.

Susan Miller-Samuel, RN, MSN, APNG
Advanced Practice nurse in Genetics
Jefferson Breast Care Center