Genetic Test Results Question

Maryanna · June 2015

Hello, new here. I'm a breast cancer survivor who had a lumpectomy, chemo, and radiation, and has been cancer-free for the last 7 years.

I just had genetic testing and the result was "Variant of Uncertain Significance Identified in ATM." This genetic testing covered many different types of cancer, including breast, ovarian, colon, lung, pancreatic, stomach, and some others.

Because of several factors, including back and shoulder pain, I was planning to get a breast reduction next month, but now, in light of the gene results, I'm wondering if I should get a mastectomy instead. Insurance will cover either surgery and my oncologist will support either decision.

Does anyone have experience with this or knowledge about it?

TraciInLA · June 2015

Have you met with a geneticist/genetic counselor?

Welcome, Maryanna -

I'm also a breast cancer survivor (6 years ago - bilateral lumpectomies, chemo and radiation), and come from a family with a strong history of breast cancer. My family participated in a research study in 2013 that resulted in my testing positive for the PALB2 genetic mutation, which is a relatively newly-discovered mutation that appears to be linked to breast cancer.

My oncologist referred me to a geneticist, and I met with both the geneticist and her genetic counselor. If you haven't yet met with folks with expertise in these areas, I strongly urge you to. Genetic testing is so specific to each individual and their own medical history, family history, and personal risks -- the genetic counselor spent hours with me assessing all of this. My oncologist told me straight up that he wasn't qualified to really advise me.

In my case, I decided to have a prophylactic mastectomy earlier this year. I know my genetic mutation is different from yours, but thought my experience might help you a little.

Traci

Maryanna · June 2015

TraciInLA said:
Have you met with a geneticist/genetic counselor?
Welcome, Maryanna -

I'm also a breast cancer survivor (6 years ago - bilateral lumpectomies, chemo and radiation), and come from a family with a strong history of breast cancer. My family participated in a research study in 2013 that resulted in my testing positive for the PALB2 genetic mutation, which is a relatively newly-discovered mutation that appears to be linked to breast cancer.

My oncologist referred me to a geneticist, and I met with both the geneticist and her genetic counselor. If you haven't yet met with folks with expertise in these areas, I strongly urge you to. Genetic testing is so specific to each individual and their own medical history, family history, and personal risks -- the genetic counselor spent hours with me assessing all of this. My oncologist told me straight up that he wasn't qualified to really advise me.

In my case, I decided to have a prophylactic mastectomy earlier this year. I know my genetic mutation is different from yours, but thought my experience might help you a little.

Traci

Thank you, Traci. I will

Thank you, Traci. I will definitely look into this.

Gm2873 · June 2015

Genetic testing

had Breast cancer in 1994 when I was 44. I had a mastectomy with tram flap reconstruction and chemo. Fast forward 20 years, and it shows up in the other Breast. My Onc wanted me to do genetic testing. Turns out I'm BRCA2 positive. Both my onc and my breast surgeon wanted me to have a mastectomy because they said the mutation was in every Breast cell and they wanted me to avoid having it occur again. So, in April of this year, I had a mastectomy and also had my ovaries removed. even though I'm Stage IV (metastases to my left sacrum), she feels she can beat this since it's responded so well to the chemo.

thankfully, both my kids tested negative! All my siblings are now going through the testing. My genetic counselor thinks the mutation probably came from my Dad's side of the family. Lots of males on that side and my mom had 5 sisters none of whom had cancer. Talking with the counselor really helped me understand the risks, the mutation and my options.

TraciInLA · June 2015

Gm2873 said:
Genetic testing
had Breast cancer in 1994 when I was 44. I had a mastectomy with tram flap reconstruction and chemo. Fast forward 20 years, and it shows up in the other Breast. My Onc wanted me to do genetic testing. Turns out I'm BRCA2 positive. Both my onc and my breast surgeon wanted me to have a mastectomy because they said the mutation was in every Breast cell and they wanted me to avoid having it occur again. So, in April of this year, I had a mastectomy and also had my ovaries removed. even though I'm Stage IV (metastases to my left sacrum), she feels she can beat this since it's responded so well to the chemo.

thankfully, both my kids tested negative! All my siblings are now going through the testing. My genetic counselor thinks the mutation probably came from my Dad's side of the family. Lots of males on that side and my mom had 5 sisters none of whom had cancer. Talking with the counselor really helped me understand the risks, the mutation and my options.

Dad's side of the family too

We're almost certain that my PALB2 mutation also came from my dad's side of the family -- almost no cancer at all on my mom's side, while we've got breast cancer going back several generations on my dad's side, and one of my father's sisters also had the mutation.

Funny (or not so funny) story: Many years ago, long before my diagnosis, when my aunts started getting diagnosed, my then-doctor told me that breast cancer on my father's side of the family wasn't a cause for concern, "because breast cancer doesn't come from the father's side."

So apparently, this physician had skipped high school biology, where they teach you about how you get your genes from your mother AND your father? If every single one of my genes came just from my mother, wouldn't that make me a CLONE, and not a human?

I mean, seriously...

Traci

Genetic Test Results Question

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