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Topic: Share your story of Genetic Testing

Forum: Positive Genetic Test Results —

BRCA 1 & 2, ATM, BARD1, CDH1, CHEK2, MRE11A, NBN, p53, PALB2, PTEN, RAD50, RECQL, RINT1, and possibly MSH6 and PMS2 genes

Posted on: Sep 22, 2015 01:16PM - edited Sep 23, 2015 10:15AM by Moderators

Moderators wrote:

Dear Members,

Would you be willing to share your story about genetic testing? (no pressure, only if you are inspired!)

We are interested in the following questions: What led you to doing the testing? What were your results, and what choices have you made based on the findings? Was payment an issue? How have you discussed these decisions with your family? What suggestions would you have for others?

Please share your story here, or send us a Private Message. We will be posting your stories here Community Members share their Stories, in order to inspire other visitors to our site who are in a similar situation. If you chose to submit your story, would you please send a photo with it?

Many, many thanks!

The Mods

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Sep 9, 2019 10:59PM - edited Sep 10, 2019 08:23AM by ShawnaB

What led you to doing the testing?

Was very pressured by my breast specialist who does my yearly screenings. Mom had trip neg at 42 and survived. Zero cancer in her family, and she tested negative for mutations. Nevertheless, my doctor still wanted me to test.

What were your results, and what choices have you made based on the findings?

Negative for all BC mutations. Positive for heterogenous MUTYH. Doesn't chance my choices. Still continuing with my regular every-6-month BC screening based on family history and breast density. Will follow recommendations for colonoscopies, as already planned.

Was payment an issue? Paid cash, $300

How have you discussed these decisions with your family?

I let my sister know that I was having genetic testing and offered to share the results with her if you wants. I'll share with my kids eventually, but its not relevant at their ages.

What suggestions would you have for others?

ASK YOUR DOCTOR what he/she plans to test you for prior to submitting to genetic testing. My doctor, without my knowledge, checked for mutations in 81 different genes, most of which had nothing to do with BC, and some that, should I had been positive, have no actionable risk reductions. Make sure you are prepared for the implications of your results. Some doctors believe that everyone should know everything that they possibly can about their genetic mutations. Make sure you agree with them, before testing. Get some good genetic counseling on these issues before you decide to test, to evaluate what you do want to know, and what you don't.

Also, be aware that the technology to identify gene mutations seems to surpass the medical community's ability to interpret the meaning of those findings.

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Sep 10, 2019 12:30AM CindyNY wrote:

I met w a PA when my MO was out sick. She recommended I do the testing. PA lead me to believe I fully qualified, insurance on board.

I met with the woman in charge of the testing and she told me my insurance fights it all the way. But she believed I'd still qualify for some, she was used to fighting w my insurance company. I had my blood drawn, 5 vials, we made the follow-up 5 weeks out, to cover for denial and fight.

Results of a 27 genetic panel testing, all negative. I had mixed feelings - negatives BRCA 1 & 2, and I still had BC. So you're not home free on anything, you just don't have the gene mutations for known cancers.

Payments amounted to 3 copays, total $60 out of pocket.

I let my family & close friends know the results. Prior to testing I had to fill out a family history on both parents sides. In doing so I realized my father's 3 brothers and my dad all had heart issues. The uncle's had passed when I was a kid, too young to attend the first 2 funerals but I knew of their deaths. It wasn't until this family history paperwork that I realized this. Back when I started Anastrozole, I started seeing a cardiologist, and I'm scheduled for a "calcium score" CT of my heart on 10/2. I'll make sure to tell my Dr of my enlightenment on family history.

Suggestions for others - I'd say it's a mixed bag. Mine being all negative didn't give me any great jubilation. Had they come back with some positive results, as some friends have had, it just makes you more aware to be tested in those areas. Example - one friend had markers for colon & pancreatic cancers. Colon, you can increase your colonoscopy testing to yearly or more frequent if your Dr says so. But pancreatic, usually people don't know they have it until it's stage 4. Unsure how to look for it more carefully (there may be a way, I just don't know it). I believe she's sorry she had the testing.

After my blood draw, and during the 5 week wait, I did wonder what was I getting myself into. Did I really want to know....yes, but...a thousand buts.

dx at 58, no family history, onco = 19 Dx 10/6/2017, DCIS/IDC, Left, 1cm, Stage IA, Grade 2, 0/5 nodes, ER+/PR+, HER2- Surgery 10/31/2017 Lumpectomy: Left; Lymph node removal: Sentinel Surgery 11/13/2017 Lumpectomy: Left Radiation Therapy 12/26/2017 Whole-breast: Breast Hormonal Therapy 3/1/2018 Arimidex (anastrozole)

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