Angelina Jolie: Hereditary Breast Ovarian Cancer Syndrome

Angelina Jolie the famous actress director has been a leading advocate for women’s health after revealing her diagnosis with Hereditary Breast Ovarian Cancer Syndrome (HBOC) in 2013. The disease is caused by a genetic mutation in the BRCA1 or BRCA2 gene those who inherit the mutated gene have a higher risk of developing breast ovarian cancer. In this article we’ll explore what HBOC is its symptoms how it is diagnosed how it is treated.

The BRCA Genes HBOC

The BRCA1 BRCA2 genes are responsible for producing proteins that suppress tumor growth. When these genes are mutated they are unable to perform their normal function allowing tumors to grow spread. Women who inherit a mutated BRCA1 or BRCA2 gene from either parent have a lifetime risk of breast cancer that ranges from 60-87% a risk of ovarian cancer that ranges from 20-44%.

Symptoms of HBOC

Unfortunately HBOC is asymptomatic meaning that there are no physical signs or symptoms of the disease until cancer develops. This is why genetic testing is so important for women who have a family history of breast or ovarian cancer.

Diagnosis of HBOC

If a woman has a family history of breast or ovarian cancer genetic testing can determine if she has a mutated BRCA1 or BRCA2 gene. The test involves a blood sample takes about two weeks for results to come back. If the test is positive an individualized screening treatment plan can be created.

Treatment of HBOC

For those who have tested positive for HBOC there are several options for treatment prevention. Some choose prophylactic surgery which involves removing the breasts or ovaries before cancer develops. This can reduce the risk of breast cancer by up to 90% ovarian cancer by up to 80%. Another option is increased screening monitoring including mammograms MRIs for breast cancer transvaginal ultrasound CA-125 blood tests for ovarian cancer. Hormonal therapy chemotherapy may also be used as a preventative measure.

Conclusion

Angelina Jolie’s public announcement of her HBOC diagnosis preventative surgery brought much-needed awareness to the disease the importance of genetic testing. While HBOC can be scary overwhelming early detection personalized treatment plans can greatly reduce the risk of developing cancer. As Jolie said in an op-ed for the New York Times “Life comes with many challenges. The ones that should not scare us are the ones we can take on take control of.”