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Breast cancer, will I get it?

August 21, 2008

Shehnaz Hassan, MD

Breast Cancer is the second most common type of cancer worldwide and the fifth most common cause of cancer death. While the cause of breast cancer is unknown for approximately 95% of cases, 5% are attributed to hereditary syndromes. In particular, carriers of the BRCA1 and BRCA2 genes are at a 30-40% increased risk for breast and ovarian cancer.

BRCA stands for breast cancer susceptibility gene. In a nutshell, this gene normally fixes damages to some parts of your DNA. If a person has a mutated BRCA1 gene it is unable to help fix damages in other DNA, therefore these defects accumulate and may allow cells to multiply uncontrollably to form a tumor. These damages are called mutations. Tumors arise from mutations that allow for uncontrolled cellular replication. This is why tumors get bigger and spread or metastasize throughout the body.

So how do you know if you have this gene mutation? And should you get tested? "In a family with a history of breast and/or ovarian cancer, it may be most informative to first test a family member who has the disease. If that person is found to have an altered BRCA1 or BRCA2 gene, the specific change is referred to as a "known mutation". Other family members can then be tested to see if they also carry that specific alteration. In this scenario, a positive test result indicates that a person has inherited a known mutation in BRCA1 or BRCA2 and has an increased risk of developing certain cancers, as described above. However, a positive result provides information only about a person's risk of developing cancer. It cannot tell whether cancer will actually develop-or when. It is also impossible to predict the effectiveness of special screening or preventive medical procedures for people with alterations in BRCA1 or BRCA2. Not all women who inherit an altered gene will develop breast or ovarian cancer."-National Cancer Institute

What do I do if I have BRCA1 gene mutation? Two of a few studied choices are Surveillance and Prophylactic Surgery. Surveillance means that you have to have a mammogram and a breast self exam (explained below) at least every 3-4 months to detect early disease. Prophylactic surgery means that you choose to have your breast tissue removed in order to reduce your chances of developing cancer in that tissue. This procedure is called a mastectomy. The part of this you have to think about carefully is that you are actually removing healthy breast tissue so that you dramatically reduce your possible chance of having breast cancer in the future. Like I explained above, it is not 100% that you will develop breast cancer if you have this gene mutation and it is also not 100% that you will not get it if you have a prophylactic mastectomy.

You might have heard of Christina Applegate recently electing for a prophylactic mastectomy. In an interview on "Good Morning America" Christina Applegate wanted to reduce her chance of developing breast cancer in the future and decided that it was best for her to have the mastectomy. This decision was made after her mother was diagnosed with Breast and Ovarian Cancer so she was tested for the BRCA1 gene mutation which was found to be positive.

Even if you do not have a family history of breast cancer, you should still screen yourself for breast cancer by performing a breast self exam (BSE).
1. Stand in front of a mirror with breasts exposed
2. Place your hands on your hips and look for signs of dimpling, swelling, soreness, or redness in your breast
3. Repeat this with arms raised above your head
4. Next feel for lumps using the balls of your fingers in a circular motion. Press lightly for superficial lumps and then press firmer for deeper lumps
5. Make sure to go over the entire breast and don't forget the part of your breast that extends into your armpit
6. Check the nipples and the area underneath them. Gently squeeze each nipple to check for discharge
7. Repeat steps 4-6 while you are lying down

The first sign of breast cancer is typically a lump that feels different than the surrounding breast tissue. Greater than 80% of breast cancer cases are discovered as a lump by the woman herself. Although about eight in ten lumps discovered by BSE are harmless. But if you do find one, you should report it to your doctor. BSE should be combined with an annual examination by a doctor for better chances of detection.

If you have a family history you should be performing the BSE at an early age. You can start at least 10 years before the age of the family member's breast cancer diagnosis. When you reach age 40-50, an annual mammography is a recommended screening method to diagnose early breast cancer.

Remember it's never too early to start and when National Breast Cancer Awareness month starts, feel free to spread your new found knowlegde to your loved ones. Because early detection is KEY!

NOTE - The USPSTF has amended their breast cancer screening recommendations. This is a discussion to be brought up with your primary care doctor. Click to view

1. The Breast Cancer Linkage Consortium. Cancer risks in BRCA2 mutation carriers. Journal of the National Cancer Institute 1999; 91(15):1310-1316.
2. Brekelmans CTM, Seynaeve C, Bartels CCM, et al. Effectiveness of breast cancer surveillance in BRCA1/2 gene mutation carriers and women with high familial risk. Journal of Clinical Oncology 2001; 19(4):924-930.
3. Kodish E, Wiesner GL, Mehlman M, Murray T. Genetic testing for cancer risk: How to reconcile the conflicts. Journal of the American Medical Association 1998; 279(3):179-181.
4. Malone KE, Daling JR, Thompson JD, et al. BRCA1 mutations and breast cancer in the general population: Analyses in women before age 35 years and in women before age 45 years with first-degree family history. Journal of the American Medical Association 1998; 279(12):922-929.
5. Martin AM, Weber BL. Genetic and hormonal risk factors in breast cancer. Journal of the National Cancer Institute 2000; 92(14):1126-1135.
6. American Cancer Society (September 26, 2007). "What Is Breast Cancer?".
7. World Health Organization International Agency for Research on Cancer (June 2003). "World Cancer Report".
8. World Health Organization (February 2006). "Fact sheet No. 297: Cancer".
9. Merck Manual of Diagnosis and Therapy (February 2003). "Breast Disorders: Cancer". on Social Media