Why did you decide to do Genetic Testing? Postives? Negatives?

Options
Leslie2016
Leslie2016 Member Posts: 316
edited December 2016 in Genetic Testing

I was diagnosed Sept 6, am having a lumpectomy this Friday. Surgeon said the lumpectomy is the perfect choice based on size, location, etc., but in the next breath said I should get genetic testing done as I probably have it. (My maternal grandmother died from breast cancer, my mother beat breast cancer..) So, there's part of me that feels like this lumpectomy/radiation is just a stop-gap, like everyone expects me to have the gene, so therefore I'll be offered a double mastectomy...

I'm trying to decide if I want to do the testing, the positives, and the negatives. I am in Canada, because I qualify, I don't have to pay for the testing, but don't know if I want to know. There's no guarantee I'll get it again, whether I have the gene or not. I'm single, 48, just about to launch my youngest off to college/university in the spring, selling my house, moving into something smaller that I can handle better, and looking forward to having a social life. Do I really want a double mastectomy?

What made you decide to do it?

«1

Comments

  • farmerlucy
    farmerlucy Member Posts: 3,985
    edited October 2016

    For my kids, especially my daughter who is 26. I had my initial BRCA and BART test thru Myriad, later I had another larger panel of 19 genes done by Color Genomics. Honestly, in a perfect world, I would have a mutation that my DD didn't have, and that might signal the end of the line for our familial breast cancer, but no mutations were found.

  • wallycat
    wallycat Member Posts: 3,227
    edited October 2016

    Nobody WANTS a double mastectomy, but nobody wants to die either.

    If you have the genetic test, there is no reason you need to act on anything. Angelina Jolie waited years before she removed her ovaries and paced herself on the bilateral mastectomy. Many women with the genetic mutation opt to watch and wait.

    Knowledge is power. If you do not have the mutations, would you not feel better? Knowing or not knowing will not alter what will happen, but it will allow you some control over this horrible disease.

    Just my 2 cents.

    I had the basic test done and I was negative for it. If it turned out I had the mutation, I would have had the oopherectomy.


  • SpecialK
    SpecialK Member Posts: 16,486
    edited October 2016

    I had testing done for two reasons - I am adopted and have no access to family history and I have two children who would value the info, and my surgeon would not recommend a surgical approach until we knew that result, although he indicated I was a candidate for lumpectomy barring a positive genetic test result. I was BRCA negative, had already had an oophorectomy 9 years earlier, and elected bi-lateral mastectomy anyway due to imaging false negatives and multiple breast issues, mainly frequent and multiple cysts, over the previous 20 years. I ended up being node positive despite negative physical exam and negative imaging (my 2.6cm tumor didn't show up on mammography despite being very palpable), I had both high grade DCIS and high grade Her2+ IDC in the right breast with cancerization of lobules, and post-op pathology revealed both ADH and ALH in the "prophy" left breast. Despite extensive reconstruction issues due to non-healing I would make the mastectomy decision again.

  • Leslie2016
    Leslie2016 Member Posts: 316
    edited October 2016

    Thank you all for your perspectives. Sorry, I got caught up with my surgery and healing. Forgot to answer to this thread. Special K, that happened to me too; my tumor didn't show up on the mammogram I had the same day as the biopsy. If I hadn't felt it, I'd still be in the dark with it growing. That is scary.

    I guess my biggest question mark on the whole gene testing thing for me is just how much knowing would change things. I don't know if it would...I already have BC. I already knew I was high risk because of my family history. I already know it's possible I could get it again and I already know that mastectomy is possibly in my future...so what's the difference? Does it change anything else in my treatment besides being offered the double m? I don't know if it does.

    My thinking at the moment is I will go for the counselling. I will ask all my questions, I want to see the numbers...my odds of reoccurance now, without the testing, the odds if I'm negative, the odds if I'm positive. What it could mean for my daughter both ways. Some days I lean towards doing the testing, some days not so I guess going and getting more information so I can make the best choice for me is the way to go.

  • ravzari
    ravzari Member Posts: 277
    edited October 2016

    I had testing (this panel) done after multiple doctors of mine kept 'gently insisting' so we could find out if my BMX was enough--I have a strong family history of BC, no ovarian or uterine cancer, just BC, and nobody has ever had genetic testing--or if we needed to start planning to remove my ovaries, tubes, and possibly uterus as well.

    I held off on the testing until my BMX was over with just to avoid the possibility of my insurance company, who does not REQUIRE a positive BRCA test for a prophylactic BMX, changing their mind if the test came back negative, then I just kind of forgot to get it scheduled. I'd had the counselling appointment about a month before the BMX, and told her I'd get it scheduled soon and really just had it completely slip my mind.

    After my gyno, the high risk specialist, my GP, and the PS got after me to get the testing done just to be sure, I finally got it scheduled; sample was sent in last week, and I should have my results in about 3 weeks.

  • ElaineTherese
    ElaineTherese Member Posts: 3,328
    edited October 2016

    I had genetic testing done because I have a teenage daughter and younger sister who might want to know. I tested negative for BRCA and other genetic issues, so ended up having a lumpectomy. I wanted a lumpectomy because I didn't want to do reconstruction (can take multiple surgeries) and I wasn't sure I was ready to go flat. So, I was happy to test negative.

  • mustlovepoodles
    mustlovepoodles Member Posts: 2,825
    edited October 2016

    I had the testing because both sides of my family are rife with cancers of all kinds, but especially breast, uterine, ovarian, and colon cancer. I was diagnosed with BC at the same age as my grandmother.  Two of my sisters have had uterine cancers and one of them also had pre-menopausal BC.  I felt like I just HAD to know, for my children's' and sisters' sakes.

    Turns out that I have two gene mutations which cause BC, plus lung, uterine, ovarian, colon, thyroid, and pancreatic cancers. How does this affect my children? They both got tested. DS is negative for both; DD is positive for both. The genetics counselor estimated my risk pre-BC to be 45+%.  DD's risk is 58+%.  Although she is very upset to have this, she is not sorry to know.  DD has already begun breast surveillance (one aunt was 24 at diagnosis.) My 3 sisters are in the process of testing now.

    As a result of my positive results, I elected to undergo BMX. I was not willing to wait around testing every 6 months, biopsying every lump and bump, and wondering when/if the cancer would come back. As my MO said, "Your breasts are going to try to kill you. Get rid of them. And the uterus & ovaries, too. Everything's got to go." I have done everything she recommended and I have no regrets.

  • Fiddler
    Fiddler Member Posts: 128
    edited October 2016

    hi Leslie,

    I am also in Ontario. If you are in Ottawa, we have a group page here on breast cancer.org, I can post the link.

    I first had my lumpectomy and then AFTER that the radiologist, looking at my history, said I would be covered for testing. I opted to test first for BRCA1 & 2 since that could affect my decision on radiation (having chemo now). Still though cannot imagine having a double mastectomy...the idea makes my stomach turn.

    Interestingly, I have another genetic possibility in my family history and that is something called Lynch Syndrome. This is a collection of mutations that put you at risk for multiple cancers, mostly for colo-rectal, but for others including breast cancer. My cousin just died of pancreatic cancer at age 55. He tested positive for Lynch Syndrome. His mother and my mother are identical twins, so I think there is a strong possibility I could test positive for this. Sadly, his mother, my aunt, who I am very close to, was also justdiagnosed with Stage 4 breast cancer. We are going through it together! The doctors are hopeful she will achieve a good remission through chemo, I pray this is the case.

    I am glad I opted to do the testing. I have a 30-year old daughter and 28-year old son, and they both have just had baby girls. They both told me that they want to know. I worry about it making my daughter anxious but I think the benefits of early screening for her would outweigh the anxiety

  • ChiSandy
    ChiSandy Member Posts: 12,133
    edited October 2016

    I had my lumpectomy first. My BS didn’t think to ask about my ethnicity, just my family history (no breast, reproductive system, colorectal, pancreatic cancer; my dad’s sister died of esophageal—but she was a heavy drinker & smoker; his half-sister died of liver mets from melanoma). At 64, I was about average in age for first diagnosis. But I read in Susan Love’s Breast Book that any already-diagnosed patient with even one Ashkenazi Jewish grandparent should be tested for BRCA 1 & 2, regardless of family history or age at diagnosis. At my first MO appointment, I mentioned that I am Ashkenazi on both sides (all four grandparents); she agreed to refer me for genetic counseling (required before insurance will pay for testing), and agreed we should wait on setting up rads until the results were back—if positive, I would elect BMX & oophorectomy; and should I want reconstruction, it’s easier with non-radiated skin. Fortunately, I tested negative for both BRCA as well as PALB2 & Chek 2 mutations. Because of that, my son (only half-ethnically-Jewish) & sister didn’t have to be tested. So we went ahead with radiation.

  • Leslie2016
    Leslie2016 Member Posts: 316
    edited October 2016

    Thanks; you are giving me lots to think about. I see the MS on Tuesday the 25th, so maybe I'll ask about setting up the counselling session for genetic testing before I see the MO? I haven't seen the MO yet. I really don't know if I want to go the route of a double Mast yet, if it was positive, but something is nagging at me that I don't want to do the radiation, then find out I am positive, then have the reconstruction be more difficult because I had Rads. I'm feeling I should at least decide beforehand, if possible. I don't know if they will want to wait on the Rads now until after I can do the testing. Gah. Nothing about this is simple, is it?

  • JoniB
    JoniB Member Posts: 346
    edited October 2016

    I was tested for BRCA 1 and 2 after my first BC and tested negative. My MO at the time wanted me to have additional testing after my sister was diagnosis and I was not interested. 8 years later I was diagnosed with a recurrence and I did have additional testing - I decided on all the tests they had 33, 36 something like that. Turns out I have a gene for colon cancer. Not a major gene but still one that increases my chances. I've been putting off having another colonoscopy because I became very ill last time I had one. Now I made an appointment to have one and I will need one every three years plus my children will need one starting at age 40. I'm glad I had the testing done.

  • Fiddler
    Fiddler Member Posts: 128
    edited October 2016

    Leslie, when I saw the genetic doctor and decided togo ahead with the test, she said that they would "expedite" the results---which could take up to 8 weeks! I am in Ottawa. Just thought I should let you know that it takes a while, maybe if you are in Toronto you can get them faster, I don't know. If you think you want to do the testing, you should try to get in with someone right away.

  • myToyStory2
    myToyStory2 Member Posts: 162
    edited October 2016

    Strong family history on my maternal side meant I started having regular mammos at 30. When diagnosed with DCIS last spring, it was an easy decision to get the testing done. I tested negative....but my mom and her sister agreed to take the test, and both are positive for BRCA 1 and at a very high risk for ovarian and colon cancer. They have had their oophorectomy surgeries since, and cancer was found in my aunt's Fallopian tubes. She's currently going through chemo treatments. I like to think my family's BC history aided me in early detection, and my BC aided my mom and her sister in being proactive to take the genetics test they had been putting off - which ended up uncovering a cancer they were unaware of. Despite not testing positive, I still opted for the BMX. It's so tough to decide which route to take because there is no right answer. You just have to go with your gut and live with the decision. Best wishes!

  • Leslie2016
    Leslie2016 Member Posts: 316
    edited October 2016

    Thanks Fiddler. I know I might be "too late" to put off the Rads for testing. I'm north of Toronto, but close enough to get there for whatever I need. My son is at college in Ottawa...nice town.

  • GirlPowerDebbie
    GirlPowerDebbie Member Posts: 213
    edited October 2016

    I just have to jump in here.

    Quick family history ...

    My oldest sister (now 72) diagnosed at age 36; mastectomy & chemo; survivor. (but with some off the chart chemo brain even now)

    That sister (Sandy) had 3 daughters. The middle daughter was BC diagnosed at age 36; too late, she died 4 years later, brain mets. She had the BRCA testing, was positive, encouraged all us aunts and sisters to do it; none of us did.

    Five years ago I was diagnosed; IDC, lumpectomy, chemo, rads. Had the BRCA testing and several different versions of it; no mutations. None.

    Four years ago Sandy's first daughter (Traci) was diagnosed with ovarian cancer. Hasn't been pretty but she is still with us. When her sister died 9 years ago, she not only didn't have the BRCA testing, but went 5 years with no mammogram, no pap smear ... never saw a doctor. She finally went to the hospital when she could not stand up due to the pain. The surgery they did to her then was horrific.

    Traci's oldest daughter, 18 at the time, had the BRCA testing and she is positive. Traci's youngest daughter did not get tested yet.

    Sandy's youngest daughter (#3) is BRCA negative, like me. Sandy also had testing, she is positive - and feels guilt because she passed it on to her daughters. Women never feel guilty enough, right?.

    Got a family history on my dad's side from a cousin. Two generations back an aunt and all of her daughters died of breast cancer.

    That being said, I was BRCA negative and still got cancer, a lucky 1 in 8 I guess.

    Knowledge is power. Do you think if Traci had gotten tested and knew she was BRCA positive, after her mom, her sister and her aunt (me) all got cancer, she would have put her head in the sand and ignored her body? Maybe, maybe not. But her beautiful daughter knows she is, and she hopefully will be more mindful and listen to her body.

    Get the test. It's free if you have family history. If you are negative, you know with relief you cannot pass it to your kids.

    Hugs - Debbie

  • Leslie2016
    Leslie2016 Member Posts: 316
    edited October 2016

    Thanks for the perspective Debbie. I'm thinking I probably will. My bigger question (in my head) is what I will do with the information.

  • ThinkingPositive
    ThinkingPositive Member Posts: 834
    edited October 2016

    I just decided to have genetic testing two years after my diagnosis. All doctors told me that I will probably not be BRCA1 or two but I just needed to know because I would never be able to live with myself I have three girls. Just got the results back and everything came back negative although there was something which I'm really not sure what it means if anybody could share any info it would be greatly appreciated. I had a variant of uncertain significance -PALB2. what exactly does that mean?

  • Wendiwithani
    Wendiwithani Member Posts: 108
    edited October 2016

    I did it for my daughter, 18 years old. I have absolutely no history of cancer in my family on either side...none.

  • Leslie2016
    Leslie2016 Member Posts: 316
    edited October 2016

    Well, the decision is out of my hands. Path came back triple positive, so they are rushing through the req to get me in to do it so we can decide whether to do the bilateral M or not. I start chemo on Wednesday. Was a total shock, and they are really rushing me through. When I went to meet the MO on this past Wednesday, I wasn't doing chemo. All of a sudden i'm doing it within a week. How things change.

  • ElaineTherese
    ElaineTherese Member Posts: 3,328
    edited October 2016

    Sorry to hear that, Leslie. You're welcome to join us on the Triple Positive Board anytime!

  • goldie63
    goldie63 Member Posts: 117
    edited October 2016

    Hi Leslie, sorry to hear you're going through this. Even though you are now having the testing anyway, one thing about BRCA+ in Ontario anyway is that it puts me in the high risk breast screening group which means MRIs as well as mammograms now. That might have been the ongoing plan for you anyway, but I didn't start getting breast MRIs until I tested positive for BRCA 2. I'm in a much smaller centre, Thunder Bay, don't know if that makes a difference either. Hope all goes well with your chemo. Hugs.

  • clarrn
    clarrn Member Posts: 557
    edited October 2016

    I paid for the expanded panel in Alberta. I wanted to know because I would like to have a second child. My fertility was damaged during chemo and I don't want to pay for invitro if I am passing this on. My panel came back with a variant of unknown significance on ATM. Which basically means that they don't know yet. And I am ok with that answer, so you need to be okay with ending up with more questions until more genetic research is done.

    Will I pay for in vitro? I don't know. But my geneticist said she would have suggested a bilateral mastectomy if I hadn't already had it done.

  • LisaPinkRibbon
    LisaPinkRibbon Member Posts: 6
    edited November 2016

    Hi everyone,

    I have been wanting join one of these forums to tell other women in doubt about my luckily positive history so far.

    All started in 2006 when my 30-year-old sister (8 years older than me) suffered from breast cancer. Her young age, 2 sick cousins, 1 diseased aunt gave reason to think that we might have inherited the BRCA gene. Luckily, my sister had surgery (breast-sparing at first), radiotherapy and chemo and finally was cancer free.

    Her whole experience and knowing more about the high risk of also falling sick at a very young age I decided to have a look at my options.

    1. Find out whether I am positive, and if yes, think about next steps.

    2. Don't get tested and just wait and fear!

    Actually, it didn't take me a minute to decide what I wanted, and I was only 26 years old, just ending my university career. I wanted to know about my fate. How many people get the chance to find out about a live-threatening condition BEFORE anything happens? So I got tested, was positive and said to my doctor: " So what can I do about this?" His answer was prophylactic mastectomy. A little shocking at first but then I thought .. 90% risk of getting sick in the next couple of years and go through the same as my sister, or have this done, get beautiful breasts that will never hang :-), and reduce my risk to close to 0. My choice was made fast. Half a year later, after my university diploma I had DM with immediate reconstruction with silicon (2 reasons for that:1. I was too slim for using my own fat, 2: I didn't want any more than the two scares below my breasts.

    I won't go into detail about the whole surgery, but I just tell you I NEVER regret being tested or taking the step of mastectomy. I know opinions differ, about whether or not it is necessary to remove (still) healthy tissue, but for me this was the only logic consequence.

    After seeing the beautiful result, my sister soon decided to have the same thing done too and has been healthy for the past 12 years now, so ...

    I hope this helps and please feel free to ask anything you would like to know about my experience.


    LOVELIFE


  • Moderators
    Moderators Member Posts: 25,912
    edited November 2016

    LisaPinkRibbon-

    Thank you so much for sharing your story! We wish you continued good health!

    The Mods

  • Leslie2016
    Leslie2016 Member Posts: 316
    edited November 2016

    Great positive story Lisa!! Thank you for sharing.

    Well, I go for my genetic testing on Tuesday. Trying to get my list of questions together. Thank you all for helping me think it through!

  • LisaPinkRibbon
    LisaPinkRibbon Member Posts: 6
    edited November 2016

    Hope I could help and wish everybody only the best!

  • Fiddler
    Fiddler Member Posts: 128
    edited November 2016

    good luck, Leslie! I willfind out my results on Nov. 25th.

  • Leslie2016
    Leslie2016 Member Posts: 316
    edited November 2016

    Fiddler, I will get mine around the same time. She put a rush on them so she said about 2 weeks.

  • Fiddler
    Fiddler Member Posts: 128
    edited November 2016

    Just got the news that my sister tested negative for both BRCA and Lynch Syndrome. Yay! I am feeling optimistic.

  • Leslie2016
    Leslie2016 Member Posts: 316
    edited November 2016

    Happy to hear that Fiddler!!

Categories