Dr. Charis Eng Responds to Questions Raised by Angela Jolie’s Prophylactic Mastectomy
May 15, 2013—Angela Jolie made headlines on Tuesday, when she published an Op-Ed piece in the New York Times about her decision to have a double mastectomy to lower her risk of developing breast cancer. Ms. Jolie tested positive for a mutation in the BRCA1 gene—a genetic condition presumably inherited from her mother, who died of breast cancer at the age of 56. Ms. Jolie followed the medical advice she was given and had a mastectomy to lower her risk of developing breast cancer “from 87 percent to 5 percent”.
Dr. Charis Eng responded to questions about the prevalence of BRCA gene mutations, the associated risks of developing breast, ovarian and other, cancers, as well as the gene testing and treatment options available. Dr. Eng stressed that BRCA mutations affect few people when considering the general population; between 5 and 10 percent of breast cancer is due to mutations in the BRCA1 and BRCA2 genes.
Here are links to some of the interviews Dr. Eng provided in response to Ms. Jolie’s announcement.
A Potential Treatment for Pulmonary Arterial Hypertension for Patients with Nonsense Genetic Mutations
May 5, 2013—Pulmonary arterial hypertension (PAH) is high blood pressure in the arteries to the lungs. It is a serious, life-threatening disease, for which there are some treatments, but no known cures. PAH has a high rate of morbidity. Sustained hypertension in the lungs requires the heart to work harder, which can eventually cause failure of the heart’s right ventricle. With current treatment, a patient’s average life expectancy is about 5 to 7 years after diagnosis.
A small proportion of patients have a family history of PAH and their disease is caused by an inherited genetic change. In addition, about 1 in 5 of patients whose PAH arises from an unknown cause (idiopathic) also is found to have a genetic change when genetic testing is performed. Most of these changes occur in a gene known as BMPR2 and they disrupt signals between cells in the blood vessels of the lungs. Dr Micheala Aldred’s group at the Cleveland Clinic Lerner Research Institute is studying the role of genetic changes in PAH and ways to correct the signaling defects.
In this study, Dr. Aldred’s team investigated ataluren as a possible therapeutic drug for PAH. Ataluren is an investigational drug that is already in clinical trials for other genetic diseases. It works by enabling cells to bypass a particular type of genetic change known as a nonsense mutation. About one fourth of BMPR2 changes in PAH are nonsense mutations. Dr. Aldred’s team studied the effect of ataluren on cultured lung or blood cells isolated from seven PAH patients. Each patient had a different nonsense mutation. They demonstrated that ataluren corrected the signal pathway in six of these cases. Also, the rate at which the lung cells grow in the culture dish was returned to normal.
Further research is required before ataluren can be tested in clinical trials for PAH. However, this study suggests that unlike current therapies, it may be possible to correct the underlying genetic change that causes PAH in this sub-group of patients. If so, the Aldred team research opens an exciting new era in which PAH treatment may be personalized to specific genetic causes.