Several years ago, the actress and film director Angelina Jolie revealed that she had lost her mother to ovarian cancer and had learned, through genetic testing, that she carried a BRCA mutation. She decided to have elective double-mastectomy surgery and breast reconstruction. By writing and talking about her situation, the actress raised public awareness about BRCA genetic testing and an inherited disorder called Hereditary Breast and Ovarian Cancer (HBOC) syndrome.
Of all the genes we are born with, every human has two called BRCA1 and BRCA2. We inherit copies of these genes from our parents, and they play important roles in fixing copying errors made within DNA. For most people, these genes function properly. But some individuals are born with mutations in these genes—that’s HBOC. Men and women with this condition face an increased lifetime risk of developing breast cancer, and, for women, ovarian cancer. Genetic mutations within those two genes are also associated with a higher risk of prostate, pancreatic, fallopian tube, peritoneal, and skin cancer, but the risks are not well-established.
About 5 to 10 percent of breast cancers and 10 to 15 percent of ovarian cancers are linked to hereditary causes.
The CDC lists HBOC syndrome as a “tier one” genomic health condition, which means that studies and research have shown that intervention options exist to decrease one’s chance of developing a disease—in this case, cancer—after receiving a positive genetic test for a particular mutation.
“There’s value in BRCA genetic testing if you are a healthy person with a strong family history of BRCA-related cancers, or if you have been diagnosed with a cancer associated with BRCA,” says Yale Medicine medical oncologist Erin Hofstatter, MD. “For the healthy patient with a positive genetic result, there’s a lot that can be done with screening and prevention, starting as young as 25 years old. For those with cancer, certain drugs and treatments appear to be more effective in patients BRCA mutations. We are essentially providing more personalized medicine.”
At Yale Medicine, we offer genetic testing and guidance on preventative actions that can be taken to decrease the chances of developing cancer after an HBOC syndrome diagnosis.