Angelina Jolie’s public discussion about prophylactic mastectomy and now removal of her ovaries and fallopian tubes has raised awareness and questions about genetic testing for cancer. Angelina has a BRCA1 mutation. Here are the most common questions and answers about her decision and background about the genetic mutations:
What are BRCA1 and BRCA2?
Two genes associated with increase cancer of the breast, ovaries, fallopian tubes, pancreas, and prostate. When these genes have been mutated the body does not have an effective way to repair bad DNA, and bad DNA is what leads to tumors.
Are these inherited from mother or father?
Yes, either parent can pass on these genes. But of note both men and women are affected. While men have a lower risk of breast cancer, this genetic mutation increases the risk of breast cancer in men.
Is there a difference in the breast cancer from these genes?
The breast cancer happens earlier in life- Angelina Jollie’s mother developed it in her forties and died in her fifties. In addition, the breast cancer tends to have a worse prognosis and not be estrogen positive, or positive for other hormones.
Does everyone who has these genes get cancer?
No 55% of women who have BRCA1 get breast cancer and 45% with BRCA2 get breast cancer.
About 40% of women with BRCA1 develop ovarian cancer and 15% of women with BRCA2 develop ovarian cancer.
Who Should Get tested for BRCA1 and BRCA2?
- Breast cancer diagnosed before age 50 years
- Cancer in both breasts
- Both breast and ovarian cancers
- Multiple breast cancers
- Two or more primary types of BRCA1- or BRCA2-related cancers in a single family member
- Cases of male breast cancer
- Ashkenazi Jewish ethnicity
What if I have BRCA1 or BRCA2 – what should I do?
Screening at an earlier age, and MRI screening of breasts. There is no good screening for ovarian cancer. While Angelina Jollie used CA-125 screening, it is not effective and once raised it is often too late.
Should I have a mastectomy and remove my tubes and ovaries if I have BRCA1 and BRCA2?
There is a reduction of risk of developing breast cancer with mastectomies by 80% but not 100%. This is because one cannot remove all of the breast tissue with a mastectomy. Radiation of breasts does not reduce risk, and may increase risk of radiation induced cancer since the BRCA1 and BRCA2 genes are not there to repair the DNA damage of the radiation.
Removing the tubes and ovaries alone reduced risk of dying from breast cancer by 80% and ovarian cancer by 50%. Again, not all the tissue can be removed, and there may have been seeding of other tissue before surgical removal.
What about non surgical, and naturopathic remedies to boost the immune system like Angelina Jolie talked about?
There is no naturopathic remedy that boosts the immune system or reduces the risk of cancer. Naturopaths are not trained as well as physicians, nor do they have a specialty in immunology or cancer.
Birth control pills may reduce the risk of cancer in these women.
Tamoxifen may reduce the risk of cancer in these women.
- Easton DF. How many more breast cancer predisposition genes are there? Breast Cancer Research 1999; 1(1):14–17. [PubMed Abstract]
- Campeau PM, Foulkes WD, Tischkowitz MD. Hereditary breast cancer: New genetic developments, new therapeutic avenues. Human Genetics 2008; 124(1):31–42.
- Pal T, Permuth-Wey J, Betts JA, et al. BRCA1 and BRCA2 mutations account for a large proportion of ovarian carcinoma cases. Cancer 2005; 104(12):2807–16.
- Howlader N, Noone AM, Krapcho M, et al. (eds.). (2013) SEER Cancer Statistics Review, 1975-2010. Bethesda, MD: National Cancer Institute. Retrieved June 24, 2013.
- Antoniou A, Pharoah PD, Narod S, et al. Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case series unselected for family history: A combined analysis of 22 studies. American Journal of Human Genetics 2003; 72(5):1117–1130.
- Chen S, Parmigiani G. Meta-analysis of BRCA1 and BRCA2 penetrance. Journal of Clinical Oncology 2007; 25(11):1329–1333.
- Brose MS, Rebbeck TR, Calzone KA, et al. Cancer risk estimates for BRCA1 mutation carriers identified in a risk evaluation program. Journal of the National Cancer Institute 2002; 94(18):1365–1372.
- Finch A, Beiner M, Lubinski J, et al. Salpingo-oophorectomy and the risk of ovarian, fallopian tube, and peritoneal cancers in women with a BRCA1 or BRCA2 mutation. JAMA 2006; 296(2):185–192.
- Tai YC, Domchek S, Parmigiani G, Chen S. Breast cancer risk among male BRCA1 and BRCA2 mutation carriers. Journal of the National Cancer Institute 2007; 99(23):1811–1814.
- Levy-Lahad E, Friedman E. Cancer risks among BRCA1 and BRCA2 mutation carriers. British Journal of Cancer 2007; 96(1):11–15.
- Ferrone CR, Levine DA, Tang LH, et al. BRCA germline mutations in Jewish patients with pancreatic adenocarcinoma. Journal of Clinical Oncology 2009; 27(3):433–438.
- Walsh T, Casadei S, Coats KH, et al. Spectrum of mutations in BRCA1, BRCA2, CHEK2, and TP53 in families at high risk of breast cancer. JAMA 2006; 295(12):1379–1388.
- Malone KE, Daling JR, Doody DR, et al. Prevalence and predictors of BRCA1 and BRCA2 mutations in a population-based study of breast cancer in white and black American women ages 35 to 64 years. Cancer Research 2006; 66(16):8297–8308.
- John EM, Miron A, Gong G, et al. Prevalence of pathogenic BRCA1 mutation carriers in 5 U.S. racial/ethnic groups. JAMA 2007; 298(24):2869–2876.
- U.S. Preventive Services Task Force. Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA-Related Cancer in Women: Clinical Summary of USPSTF Recommendation. AHRQ Publication No. 12-05164-EF-3. December 2013.http://www.uspreventiveservicestaskforce.org/uspstf12/brcatest/brcatestsumm.htm
- Peshkin BN, DeMarco TA, Brogan BM, Lerman C, Isaacs C. BRCA1/2 testing: Complex themes in result interpretation. Journal of Clinical Oncology 2001; 19(9):2555–2565.
- Burke W, Daly M, Garber J, et al. Recommendations for follow-up care of individuals with an inherited predisposition to cancer. II. BRCA1 and BRCA2. Cancer Genetics Studies Consortium.JAMA 1997; 277(12):997–1003.
- Kriege M, Brekelmans CT, Boetes C, et al. Efficacy of MRI and mammography for breast-cancer screening in women with a familial or genetic predisposition. New England Journal of Medicine2004; 351(5):427–437. [PubMed Abstract]
- Warner E, Plewes DB, Hill KA, et al. Surveillance of BRCA1 and BRCA2 mutation carriers with magnetic resonance imaging, ultrasound, mammography, and clinical breast examination. JAMA2004; 292(11):1317–1325.
- Obdeijn IM, Loo CE, Rijnsburger AJ, et al. Assessment of false-negative cases of breast MR imaging in women with a familial or genetic predisposition. Breast Cancer Research and Treatment 2010; 119(2):399–407.
- Evans DG, Gaarenstroom KN, Stirling D, et al. Screening for familial ovarian cancer: Poor survival of BRCA1/2 related cancers. Journal of Medical Genetics 2009; 46(9):593–597.
- Domchek SM, Friebel TM, Singer CF, et al. Association of risk-reducing surgery in BRCA1 or BRCA2 mutation carriers with cancer risk and mortality. JAMA 2010; 304(9):967–975.
- Kauff ND, Domchek SM, Friebel TM, et al. Risk-reducing salpingo-oophorectomy for the prevention of BRCA1- and BRCA2-associated breast and gynecologic cancer: A multicenter, prospective study. Journal of Clinical Oncology 2008; 26(8):1331–1337.
- King MC, Wieand S, Hale K, et al. Tamoxifen and breast cancer incidence among women with inherited mutations in BRCA1 and BRCA2: National Surgical Adjuvant Breast and Bowel Project (NSABP–P1) Breast Cancer Prevention Trial. JAMA 2001; 286(18):2251–2256. [PubMed Abstract]
- Phillips KA, Milne RL, Rookus MA, et al. Tamoxifen and risk of contralateral breast cancer for BRCA1 and BRCA2 mutation carriers. Journal of Clinical Oncology 2013; 31(25):3091-3099.
- Gronwald J, Tung N, Foulkes WD, et al. Tamoxifen and contralateral breast cancer in BRCA1 and BRCA2 carriers: An update. International Journal of Cancer 2006; 118(9):2281–2284.
- McLaughlin JR, Risch HA, Lubinski J, et al. Reproductive risk factors for ovarian cancer in carriers of BRCA1 or BRCA2 mutations: A case-control study. Lancet Oncology 2007; 8(1):26–34.
- Bolton KL, Chenevix-Trench G, Goh C, et al. Association between BRCA1 and BRCA2 mutations and survival in women with invasive epithelial ovarian cancer. JAMA 2012; 307(4):382–390.
Dr. Terry Simpson
Dr. Terry Simpson received his undergraduate and graduate degrees from the University of Chicago where he spent several years in the Kovler Viral Oncology laboratories doing genetic engineering. He found he liked people more than petri dishes, and went to medical school. Dr. Simpson, a weight loss surgeon is an advocate of culinary medicine. The first surgeon to become certified in Culinary Medicine, he believes teaching people to improve their health through their food and in their kitchen. On the other side of the world, he has been a leading advocate of changing health care to make it more "relationship based," and his efforts awarded his team the Malcolm Baldrige award for healthcare in 2011 for the NUKA system of care in Alaska and in 2013 Dr Simpson won the National Indian Health Board Area Impact Award. A frequent contributor to media outlets discussing health related topics and advances in medicine, he is also a proud dad, husband, author, cook, and surgeon “in that order.” For media inquiries, please visit www.terrysimpson.com.