21 Mar


In 2012 many years from the first genetic testing I went for my yearly appointment with my OBGYN. She told me about additional genes that have been identified that increase your risk for BC and I should get testing. I told her I would and I kept putting it off. I think her nurses called me 2-3 times to keep checking to see if I had the test yet. I finally got the test to get the doctor and nurse off my back. Thinking the test would come back negative just like the first set. Now I think the nurse calling me so many times was God nudging me to get off my butt and have it done. The genetic counselor called me 2 months later and told me I had tested positive for a gene mutation. Put me at a 60-80% lifetime risk of getting Breast cancer that is 5 times higher than the average women’s risk. The gene mutation that I carry is ATM gene.

ATMThe official name of this gene is ataxia telangiectasia mutated. Genes are particles in cells, contained in chromosomes, and made of DNA. DNA contains the instructions for building proteins. And proteins control the structure and function of all the cells that make up your body. Think of your genes as an instruction manual for cell growth and function. Abnormalities in the DNA are like typographical errors. They may provide the wrong set of instructions, leading to faulty cell growth or function. In any one person, if there is an error in a gene, that same mistake will appear in all the cells that contain the same gene. This is like having an instruction manual in which all the copies have the same typographical error.


The ATM gene helps repair damaged DNA. DNA carries genetic information in cells. Inheriting two abnormal copies of this gene causes the disease ataxia-telangiectasia, a rare disease that affects brain development. Inheriting one abnormal ATM gene has been linked to an increased rate of breast cancer in some families because the abnormal gene stops the cells from repairing damaged DNA.

Researchers have found that having a mutation in one copy of the ATM gene in each cell is associated with an increased risk of developing breast cancer. About 1 percent of the United States population carries one mutated copy of the ATM gene in each cell. These genetic changes prevent many of the body’s cells from correctly repairing damaged DNA. People who have only one copy of the ATM gene in each cell due to a gene deletion are also at an increased risk of developing breast cancer. Cells that are missing one copy of the ATM gene produce half the normal amount of ATM protein. A shortage of this protein prevents efficient repair of DNA damage, leading to the accumulation of mutations in other genes. This buildup of mutations is likely to allow cancerous tumors to develop.



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