Photo Credit: Gage Skidmore [CC-BY-SA-2.0], via Wikimedia Commons
Angelina Jolie, one of the world’s most beautiful and famous actresses, made the personal choice to have a double mastectomy to prevent breast cancer. Her mastectomies and reconstructive surgeries took place over several months prior to a public announcement by Jolie in an Op-Ed (Opinion Editorial) entitled, “My Medical Choice”, that was posted in the New York Times on May 14, 2013. This produced a flurry of discussion in the media, including articles in the Toronto Star, The Vancouver Sun and NBC News.
This may seem to be a surprising revelation from an actress whose livelihood is so directly linked to her stellar good looks! Indeed it is, but the double mastectomy and reconstructive surgical procedure that Jolie underwent is actually becoming a more common preventative therapy for people that have a high risk of developing breast cancer. Since the Op-Ed was published a number of other celebrities have announced that they too have faced similar decisions and preventative or therapeutic procedures.
Did You Know? Only five to ten percent of all breast cancers are estimated to be hereditary. The majority of breast cancers occur as a result of genetic changes in the breast cells and breast tumors during a person’s lifetime as a result of personal or environmental factors.
In Angeline Jolie’s case, genetic testing found a mutation on the BRCA1 gene (a scientific short form for Breast Cancer 1, pronounced brak-uh) that is known to be associated with Hereditary Breast Ovarian Cancer Syndrome (HBOC). Jolie’s mother, Marcheline Bertrand, battled cancer for 10 years and died from ovarian cancer at age 56. Marcheline's mother was also diagnosed with ovarian cancer. Jolie's doctors informed her she had an 87 percent risk of developing breast cancer and a 50 percent risk of developing ovarian cancer.
The BRCA1 gene is located on chromosome 17 and was the first breast cancer gene to be identified in 1990 as a result of research studies with large families that had very high incidences of breast cancer. Mutations in BRCA1 can result in a 65% risk of developing breast cancer and a 45% risk of developing ovarian cancer over a person’s lifetime. In 1994, four years later, the BRCA2 gene located on chromosome 13 was identified as another gene that could help assess a person’s risk of developing breast and ovarian cancer. Both BRCA1 and BRCA2 are tumor suppressing genes, which mean that if they are ‘faulty’ or mutated, the result can be the development or growth of tumors.
Did You Know? The major genes associated with Hereditary Breast Cancer Syndrome in women and men are BRCA1 and BRCA2.
Ongoing research in the field of genomics and innovations in genetic testing have also identified other genes that can increase the risk of inheriting breast cancer, such as CDH1, STK11, and TP53 genes. Other genes, such as ATM, BARD1, BRIP1, CHEK2, NBN, PALB2, RAD50, and RAD51 may play a role in determining breast cancer risk. While having access to this information could help us make proactive steps towards preventing cancer, what other risks and repercussions might result from knowing this information?
Jolie has presented her own story as an example of the personal medical choices that genetic testing can provide. She also eloquently describes other personal motivations that caused her to choose to have a double mastectomy, including losing her mother too early to cancer and her desire to be there for her own young children. As a famous person, Jolie is also very aware of her position as an educator and role model for other women, as her article purposefully describes the surgical procedures of the double mastectomy and breast reconstruction.
What is your reaction to this decision by Angelina Jolie? Was the risk great enough to warrant the preventative surgeries?
Update - May 27, 2013: On Sunday, May 26 Angelina Jolie's Aunt died of breast cancer at age 61. Debbie Martin was the younger sister of Jolie's mother, Marcheline Bertrand, who died from ovarian cancer at 56 in 2007. Martin did not know she had the BRCA1 gene until after her diagnosis of breast cancer in 2004. Once she was diagnosed with breast cancer Martin opted for the preventive removal of her ovaries because several women in the family had died of ovarian cancer.
How might genetic testing help other families in this dilemma?
General news and science websites
Miss America contestant gets hate mail over mastectomy plans (Today.com)
More women opting for preventive mastectomy - but should they be? (Vitals.NBCnews.com)
New study finds big batch of cancer genes (Vitals.NBCnews.com)
Public health organization publications
Genetics Home Reference. Breast Cancer. (US National Library of Medicine)
Hereditary Breast Ovarian Cancer Syndrome (BRCA1 / BRCA2) Fact Sheet (Stanford Medicine)
National Cancer Institute. Fact Sheet: BRCA1 and BRCA2: Cancer Risk and Genetic Testing (National Institutes of Health, USA)
HER2, BRCA 1 and BCRA 2 and Triple Negative breast cancer (Breast Cancer Society of Canada)
New Test Predicted Presence of Harmful BRCA Mutations (American Association of Cancer Research, January 22, 2013)
Breast Cancer in Popular Culture
Film: Decoding Annie Parker (to be released in 2013) written by Steven Bernstein tells the story about the discovery the BRCA1 gene, through the story of Annie Parker, a young woman who witnesses the effects of breast cancer in her family. Later, she is diagnosed with the disease and must fight for her life.
Book: Being Sarah: A true story about choice, control and breast cancer (2010) by Sarah Horton. This book about Sarah’s personal story about breast cancer has been Highly Commended by the 2011 British Medical Association (BMA) Medical Book Awards.