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  • [Deleted User]
    [Deleted User] Member Posts: 1
    edited November 2016
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    I am a 60 years old cancer patient and my disease is genetic. I have two granddaughters. Now I am worried, about the mutation which is going to run in my family too. In 2005, I had blood drawn to test for the mutation. Before the test I had two meetings. The time between the meetings allowed me to think and process the information I had received about testing. I scheduled an appointment about two months after the test to receive the results. The result was positive.

  • omt
    omt Member Posts: 1
    edited November 2016
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    The genetic testing part has been actually the hardest part of my breast cancer journey - as I have three kids, two of them girls, and each of them have a chance of inheriting this gene mutation. But, knowing that I have this gene mutation has changed my cancer treatment.

    • What led you to doing the testing? I was 43 when I was diagnosed with triple negative breast cancer, and my oncologist recommended it since I was on the young side.
    • What were your results, and what choices have you made based on the findings? I was BRCA2+. If I was negative, then I would have opted for radiation and enhanced screening. But, since I am BRCA2+, I opted for no radiation and to have prophylactic bilateral salpingo-oophorectomy (removal of both ovaries and fallopian tubes) as well as a skin-sparing double mastectomy with immediate reconstruction (nipples were removed and implants were put in after all breast tissue was removed - one surgery). This prophylactic surgery decision was easy for me as I already had all my kids and as I am now in menopause there is no chance of having any more kids.
    • Was payment an issue? No, since my insurance covered the testing payment was not an issue.
    • How have you discussed these decisions with your family? Everyone knows that I have breast cancer, but I have only told the adults about the BRCA2+ findings. I'll wait until my kids are older before I discuss this with them.
    • What suggestions would you have for others? Just prepare yourself for the feelings that accompany the results. That kind of took me by surprise - my three, wonderful, beautiful, smart, awesome kids each will have a 50% chance of inheriting this mutation and honestly it kind of kills me a little when I think about it too much. But, just because a person may be positive does not mean that they will get cancer, just in increased risk (a mantra I tell myself, it sorta helps). Also, knowing that I am BRCA2+ has helped me steer my treatment to hopefully prevent a future cancer from forming. My advice is to really sit down and talk to a genetics counselor before getting the testing. They will explain what the findings can mean and can really prepare you for whatever comes up. I had an excellent genetics counselor who took the time to explain in detail how the DNA thing works before I went through the testing, and to remind me that a BRCA1 or BRCA2 finding is not a death sentence lol. :)
  • moderators
    moderators Posts: 8,082
    edited November 2016
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    omt, welcome to Breastcancer.org! Sorry you had to be here but we're so happy to see that you decided to join. We hope you find this community to be a place of support and helpful information! Thank you so much for sharing your story and tips here with everybody, it's so helpful!

    Best wishes,

    The Mods

  • Jezikah
    Jezikah Member Posts: 68
    edited December 2016
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    I was diagnosed with BC at 33, so that's what prompted the genetic testing. My medical team wanted the test results before deciding on further treatment. I did test positive for the ATM gene mutation and so we decided to do a Bilateral Mastectomy based on the increased chance of recurrence and my age. My mom and sister both got tested and were negative for the mutation. My dad will be getting tested soon. His mother died from ovarian cancer but he has 3 sisters in their 60s & early 70s with no history of cancer. I have a 4 yr old daughter and the genetic counselor told me not to worry about getting her tested anytime soon. She said she should get tested when she's 18, but that they'll be "way smarter then" about genes/genetic mutations so I shouldn't be too concerned. She also said there is a possibility that the first gene mutation is with me and that I didn't inherit it. It's not likely, but always a possibility that a person is the start of a new mutation.

    Payment was not an issue, I already met my out of pocket costs for the year so my insurance fully covered it. My mom and sister had to pay for the test out of pocket - I think it was around $300-400, but it went toward their insurance deductibles. Their test was only for the same specific mutation I have, so they didn't have the full panel like I did.

    Once we know the results of my dad's test, we'll share the results with the extended family. The genetic counselor did suggest sharing the information with aunts/uncles and cousins so they know it runs in the family and/or if they want to get tested.

  • Hypatia
    Hypatia Member Posts: 11
    edited January 2017
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    What led you to testing? My gynecologist suggested testing due to my mother dying from ovarian cancer, my history of cysts, and a fibroid that started growing. Insurance required genetic counseling prior to testing. Since my mother was my only history for ovarian cancer and she was diagnosed a couple years over the benchmark age, it took the breast cancer of a cousin to sway the counselor to recommend testing.

    What were the results and choices made based on the findings? BRCA 1 positive. Chose to have a hysterectomy and increased monitoring of my breast. Two and a half years after the hysterectomy, breast tumor found on MRI. Had bilateral masectomy, no reconstruction in Sept. followed by four cycles of TC chemo.

    Was payment an issue? No, insurance covered after genetic councilor recommended testing.

    How have you discussed with family? During the genetic counseling phase, I contacted family to get health history. It was difficult to uncover some of it as "cancer" was not something older family members talked about, but younger ones tried their best to fill in the gaps. Contacted them again to share results. My sister's doctor tested her for the specific gene mutation I have. Her test was positive as well. She had already had a hysterectomy and is now having increased monitoring of her breast.

    What suggestions would you have for others? Don't put off seeing your doctor for routine check ups. Be kind to yourself. Be persistent! The genetic counselor felt that the lack of history on my mom's side and her diagnosis of ovarian cancer at age 53 (50 and below is the benchmark) was not enough to test me. It took the early diagnosis and death of a cousin on my father's side from breast cancer to get the recommendation. After the positive result, the councilor stated it was probably from my mother. We also discussed how the lack of history can be becasue: 1 - not everyone with a mutation gets cancer, 2 - "cancer" being a dirty word that older generations may not share with family, 3- family members dying of other causes before a breast or ovarian cancer developed, 4 - hysterectomies prior to ovarian cancer developing, 5 - passed down from a male family member (no ovaries, lower chance of breast cancer than female). Knowing you have a mutation gives you the power to do something about it.

  • angeld1904
    angeld1904 Member Posts: 1
    edited January 2017
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    I was diagnosed at 38 (2015) with stage II breast cancer. I opted for a lumpectomy-wish I would of done more research at the time. I am BRAC 1 & 2 negative. My oncologist did gene testing-I have the PTEN gene-know as Cowden syndrome. I just met with a new surgeon, she said I have a 50% chance of breast cancer coming back if I do not have a mastectomy done and a 5% chance if I have it done. I am almost 40. I have had a full hysterectomy done, colonoscopy done. I have to go see a kidney doctor to make sure all is good there. I have 2 children. My question is has anyone had the mastectomy done, coming back negative for the BRAC 1 & 2? My onyx number is 10.m on Tamifloxen. I know when I say 5 to 50 % chance, people are like how can you even question?? I just want to hear other possible similar stories??

  • moderators
    moderators Posts: 8,082
    edited January 2017
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    Hi angeld1904, and welcome to Breastcancer.org!

    We're so sorry you have to be here, and are struggling with these difficult decisions. While you very well may get some great support here on this thread, we'd suggest you also post a new thread sharing your story on the Positive Genetic Results forum, where you can meet others who have tested positive for a genetic mutation and discuss experiences.

    We hope this helps and we look forward to hearing more from you soon!

    --The Mods

  • Summer2016
    Summer2016 Member Posts: 104
    edited February 2017
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    Hi all. I'm uncertain as to where to post this question. 2 oncologist have recommended that I have genetic testing. They want to know if I carry a gene that causes ovarian cancer. They asked if anyone in my family had breast cancer....my response was, "Not that we know of." I thought genetic testing was for those who had known cases of breast cancer in their families. I'm concerned that my insurance will not cover this test, yet afraid not to have the test.

  • traveltext
    traveltext Member Posts: 1,053
    edited February 2017
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    First decide if you want to know about your genes. If so, research your family history for breast, prostate or ovarian cancer, since they are all related. Then explore gene testing.

    If you don't want to know (and remember your siblings/offspring may or may not want to know) then say you are not interested in testing.


  • jenn32214
    jenn32214 Member Posts: 8
    edited February 2017
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    I have a diversity of cancers on my mother's side. Her mother had BC at 59, luckily lived to be 94. But my mother's older brother died of pancreatic cancer at age 34, Then she (the queen of a healthy lifestyle who hadn't smoked in 40 years) was diagnosed with primary lung AND primary thyroid cancer at age 73. By the time they found it her lung cancer was already stage 4 and she died four months later. And I was diagnosed with BC last spring. So my BS was the one who got me fast tracked for genetic testing.

    I had GeneDx Breast/Ovarian panel done. All 20 genes came back negative. That's great but. The genetic counselor did mention that people of Swedish descent (which is true on that side) can also be more likely to have cancer genetic mutations. For me, I'm glad I had the testing and if anything wish there was more I could do. My money's on there is a mutation in there they just haven't discovered yet.

    In the meantime I am being monitored closely for my BC, and I had the ovaries and tubes out last month. I had years of ovarian cysts coming and going and was sick of worrying about it. And once they got in there, they discovered a lemon sized cyst between my bladder and uterus. All this stuff came back benign, just glad I got it done,


  • MightyMightyMunsonMama
    MightyMightyMunsonMama Member Posts: 1
    edited March 2017
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    Good Evening!

    I've had about a week to process that I came back positive for both BRCA1 and Lynch Syndrome (this is a mutation sequence associated with colon and digestive and reproductive cancers) and have appointments being scheduled for getting "scooped and sliced" as we're terming it at our house. We're looking at a double mastectomy and a full hysterectomy and removal of my ovaries in the attempt to reduce my cancer risk. This diagnosis was not a surprise, as several of my beautiful cousins have already tested positive for the mutation and two have developed aggressive breast cancers at young ages (younger than 40). My mother and all of her sisters are also breast cancer survivors, but the disease took my sweet grandmother and aunt, so I am all too familiar with what this disease can do to a person.

    Either reality hasn't sunk in yet, or I am more pragmatic than I thought because right now, my only worry is making sure all the paperwork and insurance billing is correctly sorted out. I suspect that as things get more real and I move toward surgery, this sense of numbness will leave me. I'm 42, the mom of two great teenagers (both boys) and an awesome husband.

    Ironically (if such a thing exists) I already knew about breastcancer.org because I came to the community to learn from other women who were going through what my mother was. I was, and am, still so grateful for the feedback that was given. It helped my mother make it through her journey into remission and now as I try and take preventative measures, I know that my questions and concerns are being shared with the right group of people. <3

    • What led you to doing the testing? Multiple women on both sides of the family with breast cancer and due to them being tested, I know that the mutation for sure is on my father's side.
    • What were your results, and what choices have you made based on the findings? I am BRCA1+. Due to this and the fact that I also tested positive for Lynch Syndrome, I am getting a double mastectomy and a full hysterectomy and removal of my ovaries in the attempt to reduce my cancer risk.
    • Was payment an issue? No, I have first and multiple second degree family members with the disease, the testing was covered by insurance.
    • How have you discussed these decisions with your family? Absolutely. I'm an open book most of the time anyway, and I think that education and transparency when it comes to genetic testing and cancer prevention is critical so that my family has the best possible data to make the best possible decisions for themselves.
    • What suggestions would you have for others? While I respect a difference in opinion when it comes to the pros and cons of genetic testing, for me, knowing what I am dealing with on a genetic level is far preferable to worrying whether or not something is lurking in my DNA. :)
    I look forward to getting to meet you and learn from you. Have a wonderful night and sweet dreams. <3

    MightyMightyMunsonMama

  • MickiJ
    MickiJ Member Posts: 1
    edited April 2017
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    A casual conversation in a locker room with a gym mate that also happened to be a doctor prompted me to get genetic testing done after we talked a bit about my family history - maternal grandmother died of breast cancer at 55, grandfather diagnosed with colon cancer at 36, mother died of colon cancer at 62, father died of pancreatic cancer at 64. No doctor had ever suggested genetic testing to me - I had never even thought about it. I am the youngest of ten cousins - one of which was diagnosed with colon cancer but no one had any history of breast or ovarian cancer. Given the fact that my maternal grandmother had 7 kids in her family and no one else in the family had been diagnosed that we knew of, it was not something that I really thought about. When I went in for genetic testing they expected to find a colon cancer gene - what they found was BRCA1. My brother was tested and he is negative. No one else in my family has been tested. I am 48 and have no birth children.

    To me this diagnosis was a gift and deciding to undergo surgery was a no-brainer for me - I would gladly give up my breasts and my ovaries for a chance at living a cancer-free life. I am so grateful for Angelina Jolie going public with her decision because it made it more approachable then I think it would have been otherwise. My breasts do not define me as a woman and making that choice was as easy as making a decision to get my tonsils out. I am a business professional and have a pretty good figure - people would probably describe me as a little vain. I would be lying if I didn't say I am a little anxious about what will happen to my shape after the reconstruction or how I will manage my attire in the interim, but ultimately my vanity isn't worth my life!

    If you have BRCA1 but are cancer-free, it gives you the chance to prepare your body and to be as healthy as you can possibly be before going into surgery - take advantage of this! I have always exercised regularly and eaten a diet rich in organic vegetables and lean meats for the most part (indulging now and then) but on January 1st, to prepare my body, I went back on Whole 30, eliminating all grains, dairy and alcohol for 30 days (concept is that you eliminate all inflammatory foods from your diet - your immune system lives in your gut!) and stayed largely with that diet plan up to my surgery (with one cheat day a week to indulge my love for ice cream) I also started a daily yoga practice with 30 minutes of yoga in my living room using YouTube (up to then, had done yoga maybe 5 times in my life) at 4:30 AM followed by another 30-40 minutes of cardio interval training and weightlifting. I wanted my body, particularly my core - to be as strong as possible. I also incorporated bone broth into my regular diet. I carried a Britta water filter bottle around with me and tried to drink at least 100 oz of water a day.

    My surgery was just this past Thursday (it is Sunday morning). I did a bilateral mastectomy (skin sparing but not nipple sparing with expander implants) and removal of the ovaries and fallopian tubes in the same surgery - it was a symphony of 3 surgical teams and 12 hours. I took that water bottle with me to the hospital and as soon as I was conscience I was drinking water constantly trying to flush all of the anesthesia from my system. I was released from the hospital less than 24 hours after getting out of surgery. 48 hours later, I was off all pain meds except for tylenol and I feel great.

    I was scared. I was expecting to be in pain and immobilized. I'm not going to say it didn't hurt, but the worst thing about this for me is the bloating from the laparoscopic surgery (seriously the worst bloating you can imagine - I look and feel like I am 6 months pregnant) and the drains - they are gross and inconvenient and you can't ever be fully prepared for them. But the important thing is to prepare as much as you can. Read the forums and at least one book ("Now What" by Curran Baker was sent to me by a friend - easy read and super helpful). Be sure to read the forums before buying any of the so called products designed to help you - many of them are cheap, overpriced and poorly made - but a few are awesome and can make things so much easier for you. (Be careful of reading online reviews outside of forums - as someone who lives in the city and shops largely on Amazon, I've learned that a good percentage of those are fake). My favorite was my Leachco Back and Belly Pillow - its like wrapping yourself in a big hug. But its heavy and hard to maneuver so practice positions before you go to surgery and get it situated exactly where you need it and show your caregiver how to position it for you before you go into the hospital.

    Everyone's recovery is different and so far, I am blessed that mine has been a positive experience. I share my story only to help alleviate your fears that it isn't necessarily going to be awful and to reassure you that your breasts do not define you as a woman. BRCA1 is not a death sentence - its an opportunity to take control and make choices before the cancer makes them for you.



  • moderators
    moderators Posts: 8,082
    edited April 2017
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    Mighty and MickiJ , welcome, and thank you for sharing your story and tips here with everybody, it's very helpful! Would you mind sending us a photo of yourself or something that represents you to include with your story? You can either post it here or send it to Moderators via private message. Thank you!

    Best wishes,

    From the Mods

  • Felloco1
    Felloco1 Member Posts: 5
    edited April 2017
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    hi

    I did the tests because I needed to know for my future planning & my relatives ( sister & nieces) I couldn't have lived with the wondering and possibilities of not giving them the chance to proactively make their own decisions & management ahead.

    I was diagnosed at 48 with multifocul cancer .... triple negative cancer / and other non triple negative tumour in the the same breast (right) as well as dcis ( no clear margins ) in the left so double mastectomy was a clear decision for me both for dealing with the cancer and reoccurrence risks , I did this before the testing.

    My insurance covered everything on genetic testing as I met the criteria for it so no problems there.

    Thankfully I came back all clear so I haven't had to have difficult discussions with my family which I was really worried about for them. It doesn't change any decisions I have already made.

    If I had been positive I would of taken all the steps possible to avoid future reoccurrence or new cancers so I would have had the ovarian surgery if needed I had discussed and agreed this with my husband & surgeon before.

    For others I would recommend testing because at least if you know you have a choice and can make decisions for your own future... and obviously family members can do so. I don't underestimate how difficult it is for people as I know it's wide reaching for individuals and relatives so I know it's not entered into lightly but not knowing would have been worse for me.

    Best wishes all x

  • Laura51
    Laura51 Member Posts: 1
    edited April 2017
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    My daughter who had lymphoma at 31 did genetic testing. Then I (Breast Cancer), her father (Thyroid cancer), her sister (Thyroid cancer) and brother (cancer free so far) followed.

    We all have CHK2. We were lucky that our insurance covered the cost of the tests.

    To qualify for the testing involved extensive research into my family medical history. To do it right meant many of phone calls. On my mom's side I have/had 8 sets of aunts & uncles plus 32 cousins!

    The greatest benefit we have found is earlier preventative testing for the younger family members. The girls now get 2 mammograms a year and colonoscopies. These tests are usually done later in life.

    Some of our family members are not interested in being tested and that saddens me. My cousins now have grandchildren I and worry about their risk factors.

  • glowgene
    glowgene Member Posts: 23
    edited April 2017
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    I thought I would share my experiences here, just in case it is helpful for someone in the future. I was diagnosed at 27yo with Invasive (pure) mucinous carcinoma, ER/PR+ HER2-, sentinel node negative, 2.6cm. I found it because I dropped a crumb down my shirt and I was trying to get it out when I felt a lump. I've been informed by all of my physicians that this is (all things considered) an excellent BC to have with a very low chance of recurrence or spread.

    What led you to doing the testing?

    I was diagnosed so young with one great aunt on my mother's side with BC and a maternal grandmother who passed away from brain cancer (at 80 yo). Not much of a family history, but my age was enough to warrant testing, regardless of history. De novo mutations are always a possibility, meaning those that were not present in your mother and father as adults, but were present in the sperm or egg cell that eventually became you. I'm healthy, work out 5 days a week, a never-drinker, never-smoker or drug-taker so, aside from a PCOS diagnosis, I had very few health or environmental risk factors.

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

    I had the Comprehensive Cancer Panel from GeneDx, partly because I'm a genetics PhD student and I pushed for "All the genetic testing you can get me. Please." My doctor agreed and asked for a more comprehensive panel than I had originally requested. This tested the following genes: APC, ATM, AXIN2, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN2A, CHEK2, EPCAM, FANCC, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, POLD1, POLE, PTEN, RAD51C, RAD51D, SCG5/GREM1, SMAD4, STK11, TP53, VHL, XRCC2.

    I was negative for all of them. If I had been positive for BRCA1/2, I would have immediately gone for the preventative double-mastectomy and likely hysterectomy. I have no plans for children and no hesitation on minimizing future cancer risk. Because I am negative for the most common genetic culprits, I was put in an awkward place when it comes to treatment options. There is almost no data for my cancer in my age bracket so predicting treatment outcomes is difficult and there is no way to tell what caused my cancer in the first place. I could be:

    A) just terribly unlucky, which is quite possible. Cancer is, in large part, unluck of the draw. As cells divide over and over again, there are often editing and copying errors and not all of them are caught in time. As you get older, the unaddressed errors can build up until it reaches a "catastrophic failure" of sorts and cancer appears. (At least in one model of disease progression) This is much less common when you're younger and haven't had time to build up those errors, but it isn't unheard of. Maybe this was a one-off scenario and I'm done with BC. Or:

    B) I have some as yet unknown genetic abnormality present in a part of the genome we haven't yet learned to screen. This is also possible. I regularly find cancer-associated variants in the data for my thesis, but determining whether they might actually be causal is a difficult task at best. If this is the case, maybe I'm at risk for other cancers? Maybe I'm not?

    I ultimately chose to simply go for the lumpectomy, partial radiation and hormonal therapy and forego the mastectomy since all other indicators (for which we have data) were positive and suggested a non-aggressive, non-recurring disease. We'll see.

    Was payment an issue?

    Payment was not an issue partly due to my age and partly due to my rather amazing student health insurance. I don't make minimum wage as a grad student, but boy have they made up for it with that health insurance in the last few years.

    How have you discussed these decisions with your family?

    I think this question is less relevant for me than most, but my family hasn't been very involved in this process as far as decision-making goes.

    What suggestions would you have for others?

    I am always in favour of genetic testing when possible. I may be biased, given my career path, but it can always help you plan for the future, especially if you also go see a genetic counselor with your results. Even the VUSs are worth knowing about. More data is added every day (though some of it is more useful than others) on the clinical associations of various genetic abnormalities. That being said, when payment is an issue, there are certain sets of criteria that make it veerryy unlikely that you have a somatic genetic component to your disease and your doctor will hopefully communicate when that is the case.

    Edited to add more details!

  • nottodaynotnow
    nottodaynotnow Member Posts: 2
    edited May 2017
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    Hi Everyone. I'm new.

    Not diagnosed, but my General Practitioner and Gyno raised an alarm when they realized that I was Ashkenazi on both sides and had a long line of diagnoses on the maternal side of the family going back to what we think is the late 19th century. I'm of mixed background, African-American, Ashkenazi, French, German and the list goes on and on. Oddly enough, if there is a genetic component, it's skipping generations. As in: My Great-Great Maternal Grandmother having what was strongly suggested to be either Breast or Ovarian cancer no one really knows which and dying then skipping my Great-Grandmother, then my Grandmother dying from Ovarian, then skipping my Mom. Yet, my aunt having Breast Cancer and surviving only to pass away young from Heart trouble. Also, my half sister also being diagnosed at age 31.

    Dad's side has a lot of history of a young diagnosis of cancer in direct generations going back to my Great Grandfather, but just my Aunt diagnosed with Breast Cancer.

    Connected with a Genetic Counselor and our appointment happened very recently. She stated that yearly Mammograms and MRIs are the life for me!

    I had my first Mammogram on Friday and I was scared, to say the least. I'm in my early thirties.

    She's submitting the reports/paperwork to insurance to get the pre-approval for the testing. There should be no cost. She suggests that we do the 3 mutation testing, then if that comes back negative, a full panel.

    I'll update this post or post a new one once I have testing done and receive the results.

  • moderators
    moderators Posts: 8,082
    edited May 2017
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    nottodaynotnow, that can be daunting, we understand. Have any of the other women in your family considered getting tested, together with you?

  • nottodaynotnow
    nottodaynotnow Member Posts: 2
    edited May 2017
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    Unfortunately not. I suspect however that they might consider doing so at some future time in light of my being tested.

  • julie75
    julie75 Member Posts: 295
    edited June 2017
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    Yes, I am willing to share my story, in the hope that others will benefit from it.

    Firstly, I was diagnosed with DCIS Stage 0, at the age of 53 (in 2010). I had a BMX to avoid any recurrence. To the best of my recollection, no one else in our family had any issues with breast cancer. My maternal grandmother had some form of cancer, but she lived to be 89 years old, so the treatment for it worked. My brother was diagnosed with colon cancer, and he was treated with drug therapy--no surgery for colon removal was needed.

    So when I was diagnosed with breast cancer, I was a bit startled. I don't smoke, I exercise 5 days/week and eat sensibly. I assumed (bad assumption!) that the reason why both my sister and brother got cancer was because they both smoked frequently, and their eating habits weren't the best.

    What led you to do the testing?

    My sister was diagnosed with breast cancer in 2013. Therefore, I mentioned to my GP that I wanted to be tested for the BRCA1 and BRCA2 gene mutations. She ordered the test, and I was negative for both, which was a relief.

    This year (2017), my GP suggested getting a more detailed genetics report, due to the fact that all three siblings (me, my sister and my brother) had cancer in some form. I complied, and received the results on 06/08/17. I unfortunately tested positive for the CHEK2 mutation (I have the c.444+1G>A mutation, AKA IVS2+1G>A), which means I am at a higher risk for both breast cancer and colon cancer.

    Was payment an issue?

    I don't believe so, I think this is mostly covered by insurance. I may need to pay $100 out of pocket.

    Have you discussed this with your family?

    I sent both my brother and my sister an electronic copy of the test results. My brother is at a higher risk for prostate cancer. Also, our risk of developing thyroid cancer is increased as well. I'm not sure about ovarian cancer; from what I've read, my sister and I might be at higher risk for it, but I can't find specific results stating so. I'm going to assume that we are.

    Advice for others?

    I am in favor of genetic testing. I am a worrier, so I have scheduled two long-overdue tests--a pelvic ultrasound and also a colonoscopy. I know ovarian cancer can be sneaky. I am considering getting a prophylactic ovary removal, and possibly a hysterectomy. I'll see how the results come back. If the pelvic ultrasound (and any subsequent tests) show anything suspicious (even the smallest abnormality), my ovaries and uterus are history!!! As to colon cancer, I know that is a slower-growing cancer, and any suspect polyps are removed during the colonoscopy. I had a colonoscopy back in 2010, and it was clean, so I'm thinking this year's colonoscopy will come out clean.

    Dealing with breast cancer was more than enough stress. Even though I was lucky - I had no chemo, radiation or drugs to take after my BMX, the reconstruction was a nightmare. I made the mistake of choosing a younger plastic surgeon, who came highly recommended by several people whom I trusted. He was, (and still is) inexperienced and immature. I went through 8 (yes, 8) reconstructions with him; I had tissue expanders only--no DIEP, TRAM or other flap reconstruction--so I feel the entire process should have been completed in four or five surgeries. Then, a couple of years ago, my implants started to harden, due to capsular contraction, so I paid $12,000 to have a highly-skilled and older plastic surgeon to replace them. I was NOT about to go back to the first guy and work with him again. I don't want to have to go through any more cancer-related issues.

    So, my advice? Please do get genetic testing so you know where you stand. Once you have your results, you can then be proactive and schedule your health exams and tests accordingly. Also, please choose your doctors carefully.



  • moderators
    moderators Posts: 8,082
    edited June 2017
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    Thank you so much for sharing your story with us, Julie!

  • Rwrighty
    Rwrighty Member Posts: 5
    edited June 2017
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    I was dx in Feb 2017. We did the myrisk through myriad due to pancreatic cancer on my fathers side and colon and melanoma on my mothers side. I have a very large family with many women and not one person has had breast cancer. I tested negative for the BRCA 1 or 2 but tested positive for a rare CDNKS (p16) mutation - melanoma-pancreatic cancer syndrome. Very high risk for melanoma (75% after age of 50) so yes I will be seeing my dermatologist quite often. I also will be working with a pancreatic doctor that treated my father. Not sure what has thrown me more for a loop - the breast cancer or this info. The MO and surgeon do not think this gene mutation is related to the BC. The genetic doctor said it may but there just isn't that much information out there yet. I do plan to send my info to some studies. just want to finish my treatment first. My children all need to be tested. Melanoma is a treatable disease if found early so I believe this is important information. Knowledge is power but it is also a little frightening.

    My insurance did pay for the testing and my sisters have also decided to be tested.

  • lrwells50
    lrwells50 Member Posts: 74
    edited June 2017
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    What led you to doing the testing?

    My mother had two instances of breast cancer, and a niece that was undergoing neoadjuvent chemo when I was diagnosed.

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

    BARD1 mutation. Because it's of unknown significance, the only decision it led to was to gave my two daughters do the testing. It turns out my niece had mutations on two different genes.

    Was payment an issue?

    I was already on Medicare when diagnosed, and have a good supplement, so it hasn't cost me anything.

    How have you discussed these decisions with your family?

    Yes, the girls will have genetic counseling and then will be tested.

    What suggestions would you have for others?

    Get the test if it doesn't bankrupt you, particularly if you have close female relatives it might affect

  • superius
    superius Member Posts: 310
    edited July 2017
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    I have an appointment with Genetic counselor next week. Since it was 2 years since I was diagnosed, they want me to talk to a counselor again before testing.

    The Genetic counselor 2 yrs ago, as well as all the Doctor/ Oncology friends (counting seven of them!), all recommended for me to do the tests because of my age of diagnosis (just passed 42) & there wasn't any BC/ Cancer in the family as far as I know!

    It's interesting to see everyone getting tests done because of family history, but it's the opposite for me...

  • sbelizabeth
    sbelizabeth Member Posts: 956
    edited July 2017
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    I had genetic testing a couple of months ago, and received a letter in the mail. Here's what it said:

    "Dear Sbelizabeth:

    We received the results your genetic testing and no mutton was found."

    Baaa....

    image alt="Image result for sheep">

  • IllinoisNancy
    IllinoisNancy Member Posts: 99
    edited July 2017
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    Hi,

    I had genetic testing for the BRACA back in 2007 and also in 2010. Now, in 2017 they did another test and found I carry the ATM mutation which causes breast, prostate and pancreatic cancer. To make matters worse, there is a 50% chance that I pass it on to my kids. The worst part of all is that if my kids have the mutation and have a baby with someone who has the mutation, the baby has a 25% chance of having a horrible genetic disease which kills them at a young age after much suffering. (Louis-Bar Syndrome)

    I hate cancer!!!

  • dogmomerica
    dogmomerica Member Posts: 4
    edited July 2017
    Options

    New member here, I've spent the whole day browsing, reading your stories, and learning as much as possible.

    My mom was diagnosed with breast cancer in 2000 at age 42. I was 12. She had a double mastectomy followed by chemo. I grew up overnight being involved with her care. I wanted to spend as much time with her as possible, and I did.

    Her mother was diagnosed with breast cancer at age 52 and that's all I know (we are estranged and I've never met her). My mom decided to be the first in the family to get genetic testing at the urge of her doctor, and she learned of her BRCA1 2800delaa mutation. She had a prophylactic hysterectomy in 2012 and has been great since.

    Now for me... my husband bought me a 23andme test for my birthday in May. I ran the raw data through another service and learned I share the same mutation as my mom, with a very high risk of both breast and ovarian cancer. Interesting thing is my mom is of Irish descent which is where our mutation comes from. I am also Ashkenazi Jewish from my dad's side and I'm wondering if I carry any of those mutations. I am now 29 years old and exploring my options. I'm working on getting an appointment with a genetic counselor to get official lab testing to confirm the mutation and once it's confirmed, I'd like to have a prophylactic mastectomy with reconstruction.


  • moderators
    moderators Posts: 8,082
    edited July 2017
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    Hi dogmomerica! Welcome to Breastcancer.org and thank you so much for sharing your story. Hope we can all help you with questions and support! While you wait for your appointment with the genetic councelor, you may want to take a look at the section on Genetic Testing from our main site.

    Let us know how it goes!

    Best wishes,

    The Mods

  • farmerlucy
    farmerlucy Member Posts: 596
    edited July 2017
    Options

    Best of luck with the road ahead. Hard news for someone so young. At least now you can be proactive. There is a wealth of info here. I leaned on it long and hard when I was deciding on a preventive mx. Gentle hug to you.

  • chisandy
    chisandy Member Posts: 11,327
    edited July 2017
    Options

    Conventional BRCA mutation testing too narrow for Ashkenazi women

    The Univ. of Washington (where my DH got both his Ph.D in Genetics and his DM) has released results of a study. 100%-Ashkenazi (all four grandparents) women diagnosed with breast cancer who’d originally tested negative for the three “founder” BRCA-1 & 2 mutations were tested with a newer broader test that looked for alleles of those mutations as well as CHEK2 and some others—and 4-5% of them had tested positive for the latter mutations. Some researchers cautioned that might not be sufficiently statistically significant for re-testing of all Ashkenazi bc patients who’d previously tested negative for the “big three,” but there were several patients tested who, despite having been “big three”-negative, nonetheless were positive for these less-common mutations, despite no family history of breast or associated cancers. (Emphasis mine).

    This does give me pause. I might go out of pocket for this new test, and should I test positive for one of these add’l mutations, I might revisit my decision to opt for lumpectomy/radiation over BMX.