Biología de Cosas de Ciencias

Angelina Jolie decided to go for a double mastectomy. She doesn’t have cancer yet, but like many women with breast cancer mutations, she had the radical surgery to lower her risk.

 

Describing her decision as “My Medical Choice,” the 37-year-old actress revealed in an op-ed in the New York Times that she carries the BRCA1 gene mutation, which gives her an 87% risk of developing breast cancer at some point in her life. The abnormal gene also increases her risk of getting ovarian cancer, a typically aggressive disease, by 50%. To counteract those odds, Jolie wrote that she decided to have both her breasts removed.

 

While radical, her decision to pre-empt any future cancer is a common one, and backed by studies. In 2010, Australian scientists found that women with the BRCA1 or BRCA2 mutations who chose to have preventive mastectomies did not develop breast cancer over the three-year follow-up. What’s more, since the genetic abnormalities increase the risk of ovarian cancer, women who had their ovaries and fallopian tubes removed also dramatically lowered their risk of developing ovarian or breast cancers. They were 89% less likely to develop ovarian cancer and 61% less likely to develop breast cancer over three years than their counterparts who did not have prophylactic surgery. Among the 250 study participants who underwent preventive mastectomies, none developed breast cancer during the study follow-up. Additionally, a patient’s surgical choice affected overall mortality rates, both cancer related and not: only 3 percent of surgery participants died at the time of the study follow-up versus 10 percent of those who avoided the surgery.

 

And while the mutations are inherited – a mother with either aberration has a 50-50 chance of passing it on to her children – women who don’t get the mutation are not at increased risk of developing breast cancer, even if they belong to families with a history of the disease. Previous studies had suggested that women who did not have the mutations but had a mother or sister who did, could have up to a five times greater risk of developing different types of breast cancer, which led them to schedule frequent biopsies and even preventive mastectomies. The latest research, however, suggests that’s not necessarily the case.

 

But the new study counters those findings, concluding that the risk of breast cancer in women from BRCA families, who do not carry the mutations themselves, are no higher than that of women in families with other types of breast cancer. The study involved more than 3,000 families with breast cancer, including nearly 300 who had the BRCA1 or BRCA2 mutations.

 

The genetic test for the BRCA mutations isn’t done for every woman, or even for every woman who is at risk of developing breast cancer. Doctors recommend it for those who develop cancer at a young age, or have multiple family members with the disease. It’s expensive – up to $3000 – and insurers require that patients meet a threshold for needing the test before they cover its cost. Jolie is fortunate to be able to afford not just the test but the reconstructive surgery following the procedure as well. But she’s aware that not all women are even aware of the genetic screening and may not be able to afford the testing. She wrote that her goal in announcing her choice to remove her breasts prophylactically is to raise awareness of the test and the treatment options that women have if they are positive for the mutations.

Via Dr. Stefan Gruenwald