Katie Budris
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Blog | a survivor's story

Genetic Testing

1/3/2019

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Some good news in the midst of the terrible, terrifying journey that is cancer treatment... my genetic testing results came back normal. I think this is good news, anyway. I was tested for 8 gene mutations associated with breast cancer. The most well known genetic mutations for breast cancer are the BRCA1 and BRCA2 genes, but there are several others that I was tested for as well, many of which are associated with other types of cancer as well including ovarian, lymphoma, melanoma, and uterine. 

All results came back normal which means I do NOT have a proven genetic mutation and there is no reason to think I'm at higher risk of breast cancer recurrence or another instance of breast cancer in the future. I can move forward with plans for a lumpectomy after my chemo treatments and do not need to worry about more aggressive surgery or treatment at this time. 

Of course, there's always the chance I do have a genetic mutation that the scientific community hasn't identified yet. Statistically, only 1 in 227 women in their 30's are diagnosed with breast cancer, so my situation is pretty rare. And the genetic counselor said that there must be other factors that have led to my developing cancer at such a young age.

There's just no way of knowing what those may be. 

So this is why I say I think this is good news. Good because if I had tested positive for one of the BRCA genes, I would have probably gone with a double mastectomy. If I had tested positive for one of the genes associated with ovarian or uterine cancer, I might have also have considered an oophorectomy or hysterectomy. A positive genetic result of any kind would have mean higher risk of recurrence, which means more testing down the line and near constant anxiety over when my cancer might return or spread. Still, it would have been an answer.

Negative genetic results feels like, well, a big fat question mark. You got cancer? Huh? In your 30's? How did that happen?

The doctors tell me sometimes it just happens. There's no way of knowing how long it's been growing inside me or what factors contributed to my cancer. But my friend Dr. Google tells me things, risk factors, some of which I've had control over. Oral contraceptives, which I've taken for nearly 15 years to regulate my cycle. Never being pregnant, having a baby, or breastfeeding, and being over 30. Drinking alcohol. Being overweight. 

Without a confirmed genetic mutation for breast cancer, I can't help but feel at least partially responsible. Could I have done things differently? Would it have mattered? 

It's not really worth dwelling on this now. There's no way to know what caused my cancer, or if I could have done anything about it. All I can do is look forward, attack this cancer with everything I've got, and take responsibility for my long, healthy, hopeful future.
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    About Me

    Breast cancer survivor.

    Invasive Ductal Carcinoma, stage 2b

    ER/PR + Hormone positive, HER2-

    AC/T dose dense chemotherapy, Dec 2018-April 2019

    Lumpectomy, May 2019

    Axillary Lymph Node Dissection, 17 nodes removed, 2+

    Radiation, June-August 2019

    Tamoxifen and Lupron Hormone Therapy, August 2019 >>>

    ​Young Advocate with Living Beyond Breast Cancer, 2020-2021

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  • Home
  • Bio
    • Meet Katie
    • Photos
  • Writer
    • Curriculum Vitae
    • Teaching Philosophy
    • Poetry
    • News
    • Glassworks Magazine
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    • The Lady Hoofers
  • Survivor
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