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So today was a day of good news and not so good news. The great news:) I do NOT need chemo!!! I scored an 11 on my Oncotype DX score report! Happy Dance! Happy Dance! Now for the not so good news I have a genetic mutated gene. It's the ATM gene that causes a high risk of cancer in the breast as well as an elevated risk for pancreatic cancer. My oncologist will me sending me to the Moffitt cancer center (in a few months) to educate me on the ATM gene mutation. In the meantime, he wants me to heal… read more
@A MyBCTeam Member I could have written this post myself. Actually I think I did post a question when I first got my genetic testing results back. I was BRCA negative also, but had the ATM mutation. My mother had breast cancer at 40 and the a second primary at 62. She does not have the ATM mutation that I have. My paternal grandfather passed away of liver cancer at age 37, in 1951. I now know that liver cancer does not start in the liver but almost always somewhere else and then moves into the liver. So I am left wondering if the ATM mutation could have come from him through my father's side. My oncologist is treating me based on my mother and grandfather's family history. I had an Onco score of 11 also. My genetic counselor said Myraid wasn't doing further testing of the ATM gene at this time, so there wasn't much more to find out, other than it was a possibility that it could have caused my cancer. I have since read about the pancrease risk, and that the ATM mutation could be similar to the BRCA2. From what I read it depends on which numbers it was on. Of course that was strictly my own researching from the internet, I have not had any dr tell me more. I am in a research study for rare mutations with my oncologist, but so far they haven't done anything more with my results. I would be very interested in knowing what you find out after your genetic appointment. I am going to add you to my team as we have many similarities. You are actually the only one on here that has said anything about an ATM gene. Oh and I am a teacher also!
@A MyBCTeam Member - I have gotten more information from @A MyBCTeam Member than my own doctors regarding my ATM mutation. I am in a rare mutation study in which they took blood (6 tubes to be exact) and have access to my tissue/tumor. But as far as I know, they haven't done anything with it. I did have my ovaries removed because I had ILC and the mutation. From what I was told with the ATM mutation, it can mimic the BRCA2 gene, which increases the risk of ovarian and pancreatic cancers. The other reasoning of my ovaries removed was to get me post menopausal so that I could take Arimidex rather than Tamoxifan, as Arimidex works better on ILC. I worry too about the pancreatic cancer. My mom has had two primary Breast cancers, has had the genetic testing done twice, and does not have the ATM mutation. My dad has not had any cancer, and therefore no genetic testing. However, his father, my grandfather, died at age 37 of "liver" cancer. That was in 1951. I now know that liver cancer almost always starts somewhere else and goes to the liver, so I can't help but wonder if he had pancreatic, and carried the ATM gene. My report read that the ATM mutation made my results unknown. They said it is very rare and just hasn't had enough studies completed. My genetic counselor checked with the genetic testing company and they told her at this time they are not studying that particular gene so they would not want to test any of my family members, which she thought was a good chance that they would. So with all of that, my oncologist is treating me as if I did carry one of the BRCA genes. I would be interested in the websites you were given. Please keep us updated! I do believe we are a very small group, we are unique!
@A MyBCTeam Member and @A MyBCTeam Member the Doctor at the Moffet Center (Tampa Fl.) gave me a consultation and collected my saliva. They also met with my Dad (he has the ATM mutation) and gave us letters to give to my brother and children. My results did not say variant of unknown significance.It reads: Result Positive - Clinically significant mutation identified / ATM - High Cancer Risk. My Dad had another mutation with unknown significant plus positive with the ATM. I was told that my brother and three children have a 50% chance of inheriting the gene mutation. My oncologist put me on Tamoxifen for 10 years. It makes my body ache, give me headaches, and has really terrible side effects :( The one thing I did find out is that any form of radiation is REALLY BAD when you have this mutation. Moffit recommends that I avoid exposure to radiation and smoking. Hence, there is no test that they can give me every year to see if I get any other cancers because all the test consist of radiation. I am so glad that I went with my gut and had the BM instead of radiation and having the lump removed. I just knew in my heart what i had to do even before the results came in. Oh, as for ovaries, they are staying put. The ATM mutation does not effect the ovaries. The thing I am worried about most is my elevated risk of pancreatic cancer and not being able go for any testing. My doctor said live for the moment and do not worry about the future, I hope this helps. I also joined www.promptstudy.org and ICARE studies so scientist can get more information on this mutation. @A MyBCTeam Member you also have had on going upper respiratory, sinus, kidney stones,and hive issues. I am thinking that there is a common link / denominator with the genetic mutation besides cancer. This is my personal opinion. Keep me posted please!!! Have a great day! Tracy
@A MyBCTeam Member and @A MyBCTeam Member,
I recently received test results which indicated that I have "ATM mutation / Variant of Unknown Significance / heterozygous / c.6078G>A (p.Met2026lle). It further goes on to say that a change of Methionine to an Isoleucine (ATG>ATA) in exon 41. Based on current available information it is unclear whether ATM Met2026lle is a pathogenic mutation or a benign variant."
I met with a genetic counselor and left the appointment with the understanding that the counselor knew little more than what was written on the report since she indicated that the mutation is rare. She did say that they are not sure if the mutation is genetic or caused by outside influences and that additional testing of my family members might be recommended. The report lists websites that I should visit for more information and I also searched on the internet which thankfully Iead me to TracyAnn's post and mybcteam.com.
Cdoebele posted "Questions: Are you prone to sinus and upper respiratory infections, kidney stones, do you break out in rashes or hives, did you decide on your own to take your ovaries out?"
In my case yes to all three and I have not decided to have my ovaries removed or take Lupron in order for Arimidex to be effective. Tamoxifen is not recommended for ILC.
Regarding my background, I only have one aunt who had breast cancer in her 40's and she is now in her early 80's.
I am primarily of African American descent with a mix of Choctaw and Irish.
If either of you can share information regarding the ATM mutation and how it has affected your treatment I would be very greatful.
Thank you Tracy. I'm 95% sure I want to have the surgery but still deciding on " when", pain is one of my biggest fears . Still trying to navigate this site, is their a private way to discuss a few things with you?
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