What led you to doing the testing?
"Mother of two, daughter and son. Multiple relatives with cancer. Maternal side: 3/7 with breast cancer, one who had it twice. 1/7 with ovarian cancer. 1/7 with uterine cancer. The other ladies: one had, and died from, MS. The last one is my mom, at 80 years of age cancer free. Of the three with breast cancer, two tested BRCA1 & 2 negative; my mom tested negative. Paternal side: 1/2 ovarian and died from that. My dad died after 7 years of fighting colon cancer. Thus, in his family 2/3 died from cancer. Siblings: sister with triple negative breast cancer, brother with Hodgkins lymphoma, brother with 1/3 of colon removed from nearest thing to cancer the pathologist had seen (also on Metformin for many years). Only one sibling with nothing related to cancer thus far."
What were your results, and what choices have you made based on the findings?
"No findings of mutations BRCA1/BRCA2, ATM, BARD1, BRIP1, CDH1, CHEK2, MRE11A, MUTYH, NBN, NF1, PALB2, PTEN, RAD50, RAD51C, RAD51D, TP53.
"Positive results would have shaped my future care, but I would still have opted for lumpectomy and radiation, since at the time my aunt with breast cancer twice, was in her 80's and that was good enough for me. I did believe, prior to the results, that there had to be a genetic component, since statistically the amount of cancer in my family was out of the norm. I remain stunned that everything was negative and firmly believe that something will be found in the future. I most particularly wanted my daughter to know if she needed more frequent screening at a younger age. Even with these results, I will push her for mammograms early and often, especially since my tumors were not palpable."
Was payment an issue?
"My husband is active duty USAF. My radiation oncologist thought with my family history that genetic testing was critical and referred me to the genetic counselor who ordered the tests after a consultation."
How have you discussed these decisions with your family?
"Extensively with my mom and spouse. It was simpler since dear husband is triple board certified, Internal Medicine, Critical Care and Pulmonary. Dear husband was very supportive and felt it would be important for our children. Let the kids know that I would be doing the testing and would keep them informed. Have shared the results family wide."
What suggestions would you have for others?
"For me, I hoped the testing would provide an explanation for all the cancer in our family. I was particularly incensed with my diagnosis, given a healthy lifestyle and breastfeeding my children for a combined total of 2.5 years. It was a let down for all the negatives, although it did provide some great relief for dear daughter and dear son. I looked upon the testing as another tool in evaluating my choices moving forward."
-- movingsoccermom, tested negative for a known genetic mutation
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