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Tags: breast cancer | mutation | BRCA1 | BRCA2 | Komen | ovarian

Role of Gene Mutations in Cancer

Erika Schwartz, M.D By Thursday, 18 September 2014 04:39 PM EDT Current | Bio | Archive

Women are so afraid of cancer that we are ready to lop off our breasts and remove our ovaries without giving it much thought. This is the result of scare tactics rather than true information and scientifically based facts.
Why? Lots of marketing has been invested in scaring women. The Susan G. Komen Breast Cancer Foundation, which started the pink ribbon and Avon walks, raises billions for research but spends most of the money on the marketing of breast cancer. While it has done a good job of raising awareness of breast cancer, it has done an even better job of giving misinformation, scaring women, and improving the bottom line of the cancer industry.
Celebrities don’t help much with the fear factor, either. Angelina Jolie, generally a wonderful role model for many women, decided to have her breasts removed at age 37 because her mother died at age 57 from ovarian cancer due to the BRCA1 mutation. As a result, thousands of women had themselves tested for the BRCA gene mutation and many had prophylactic mastectomies.
Angelina is one woman; she made her own decision with the information she had. No one else is Angelina Jolie and we must each learn to use information as it applies to us. We cannot and should not live in fear because our neighbor, a celebrity, or someone we love has cancer. It doesn’t mean we are them. Each one of us is an individual, so let’s learn to live our lives as individuals.
BRCA1 and BRCA2 are human genes that produce proteins that stop tumors from damaging cells by repairing cellular DNA. When these genes mutate, they do not repair the DNA molecules properly, allowing for abnormal cells to grow and sometimes turn into cancer cells. Specific mutations in the BRCA1 and BRCA2 genes increase the risk of breast, ovarian, and other cancers in women.
Consider this research about the BRCA1 and BRCA2 mutations:
• BRCA1 and BRCA2 mutations together may account for up to 20 percent to 25 percent of all hereditary breast cancers.
• They account for 5 percent to 10 percent of all breast cancers.
• Mutations in BRCA1 and BRCA2 also account for around 15 percent of all ovarian cancers.
BRCA mutations can be inherited from a woman’s mother or father. The risks for women who have the mutations are:
Breast cancer: Twelve percent of women will develop breast cancer sometime over their lifetime. (You certainly do not want to develop cancer at age 40, but how much does it matter if you get it at age 95? Would you want surgery and radiation then?) If a woman inherits the harmful BRCA1 mutation, chances are 55 percent to 65 percent she will get breast cancer by age 70. For women who inherit the harmful BRCA2 mutation, the likelihood is 40 percent that they will develop breast cancer by age 70.
Ovarian cancer: Of the general population, 1.4 percent of women will develop ovarian cancer in their lives. Thirty-nine percent of those with BRCA1 mutations and 11 percent to 17 percent of those with BRCA2 mutations will develop ovarian cancer by age 70.
No long-term general population studies have been done that directly compare cancer risk in women who have and do not have the harmful BRCA1 and BRCA2 mutations. So these statistics are what the National Cancer Institute uses and are based on women who come to their attention because they are diagnosed with the mutation and/or cancer.
This is a very important piece of information. The numbers I just gave you about BRCA risk may be much smaller if the entire population of women was taken into consideration — or maybe much bigger. We have no way of knowing how accurate the information is. So yet again, it becomes an issue of personal, individualized care, not public health, which is what statistics address.
It also is important to note that in addition to the risk associated with BRCA mutations, more or less risk is added or subtracted due to lifestyle, reproductive history (IVF, birth control pills, etc.), and other factors.
The test for the mutation is obtained from blood or saliva, both of which contain DNA. It is sent to a special laboratory and results usually take a month. Just think of the stress that a month of worrying can do to an otherwise healthy young woman.

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Women are so afraid of cancer that we are ready to lop off our breasts and remove our ovaries without giving it much thought. This is the result of scare tactics rather than true information and scientifically based facts.
breast cancer, mutation, BRCA1, BRCA2, Komen, ovarian
Thursday, 18 September 2014 04:39 PM
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