Share your Genetic Testing Story
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I, too have been thinking about genetic testing. I do not have the family history that some do on this forum-I wonder if I am overreacting... my grandmother and her sister had breast cancer. My grandmother had 4 boys-all have/had prostate cancer in their 50's-my father died when his went to his bones. Now, my brother has prostate cancer. I had cervical cancer due to HPV. For the past 7 years I have had troublesome mammograms-ultrasounds. My last 3D mammogram came back better than the year before. I questioned it and was told that it depends who reads the screen! That bothers me-will my doctor think that I am insane? Do I have a valid concern?
Cherie
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I definitely think you could make a case for testing. Here is a chart that shows how mutations in certain genes, like BRCA cause an increased incident of other cancers like prostate cancer. Ideally your doctor would refer you to a genetic counselor who would in turn determine the need for testing. Best of luck to you.
https://www.color.com/learn/the-science?kw=color%2...
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Thanks for the color.com info. I appreciate your response so quickly- suppbose I could purchase the test and send it in if they would let me. Thanks again! This board is amazing!
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I did the expanded breast cancer panel through them (self pay $249) after insurance denied it from two other companies. The free genetic counseling at the end of the process was especially helpful. They even sent me info re: genetic counselors in the city my daughter lived in.
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I may do that!! I am almost embarrassed to ask for the test today. I'll give it a shot, though. I was initially under the impression that my doctor had to order the test - I see now that they do not. I would have done it much sooner!!
Thanks so much!!
Cherie
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Hi all!
I wanted to writ an update to my post from July.
I met with the genetic counselor and an oncologist yesterday for my results, and I did test positive for the same BRCA1 mutation as my mom. So now begins the breast removal journey! I'm getting scheduled for a mammogram, breast MRI, transvaginal ultrasound, and CA-125 blood test. I also have a consultation with a breast surgeon in September. After I'm done having children (probably in 5-8 years) I'll have a bilateral salpingo oopherectomy. Here goes nothing!
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I was diagnosed with breast cancer in October 2016, at age 49. I am from Belgium originally. My sister was diagnosed with breast cancer at 49 and my mom had uterine cancer at 47. Enough red flags to to genetic testing, came back with that I have BRIP1 and PMS2 gen mutation. My sister and mom talked to a genetics specialist last week and tests are underway (they live in Belgium and tests take about 8 weeks there to complete. I decided to have lumpectomy, clear edges and no nodes involved. I opted for no chemo with an onco type score of 30. I underwent radiation June/July 2017. Just finished laparascopic complete hysterectomy/oophorectomy 10 days ago.
I am 50 now, was not going through menopause yet (I think I did enter perimenopause) and for me the decision to get this surgery done was kind of obvious: my breast cancer was hormone receptive, I am done with babies and I know that ovarian cancer is a silent killer because when it's found, it's most likely in later stage and survival chances are lower.
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I met with a genetic counselor between surgery & radiation and had the then-standard genetic mutation test. I just sent in my 23andme sample; if anything ominous shows up on my colonoscopy this week I might spring for the Color Genomics test, because new variants are being identified all the time, especially among Ashkenazi Jews. My husband had me get 23andme kits for him and our son as well—both to help fill in holes in our respective family trees but also to see if there’s anything to watch out for (and for our son, pass on to his eventual progeny).
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I received my results yesterday.
What led you to doing the testing? In my church circle, there are multiple MDs, including Clinical Oncology Researchers (one of them did research on BRCA BEFORE there's BRCA!!), Radiologist, Endocrinologist, Surgeons, etc... They all suggested doing the testing, due to my age at diagnosis (just turned 42) and there's no history in both sides of the family as far as i know. Which I thought it's interesting, since look like most people did the testing because the raised risks. But they recommended testing due to LACK of Family History... hmm....
What were your results, and what choices have you made based on the findings? The test was done thru Gene-Dx. I believe 27 was tested. All but one are negative. CDK1 is "VUS" (variant of unknown significance). The Counselor told me to check with her if any new cancer case develops in the family. She said one disadvantage at this point with me (Chinese, from Hong Kong originally), is that most research are based in USA, on Caucasian patients. But lately there are more research coming from the far east. So hopefully there's more insight into it.
Was payment an issue? No. Everything related to BC are covered by insurance.
How have you discussed these decisions with your family? Well.... One of those Doctors I mentioned, suggested testing briefly with my parents, 2 yrs ago, at diagnosis.
I haven't told them I actually did the test. And since everything is negative, I probably would not tell them. BUT, if anything were to be positive, then I would - I have a younger sister (3 yrs younger), 4 female cousins & 2 nieces.
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I have a little bit of a strange situation. My 4 girls asked my husband over and over to be tested for ovarian cancer gene due to the fact he has several relatives that have all died due to ovarian cancer including his mother at the age of 39. Unfortunately it came back showing he was BRCA 1 and long story short 3 of my daughters came back also positive. Now the doctors want them to have double mastectomies and for them to also get their ovaries out as soon as they are done having children. I understand the ovary part with our strong family history but I am really having a hard time with the mastectomy part with no family history of BC. My oldest child is 28 and trying to save money for a house and a wedding. Now they want her to have a surgery for a cancer she may never get.As well as my other 2 kids. Has anyone else had BRCA 1with no family history? What was the outcome or your story
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momneedshelp, my mother's side if the family had several OC deaths including her mother at age 62. My mother tested positive for BRCA2 and had ovaries removed at age 60. Kept her breasts because there were no BC cases in her family. Fast forward 20 years... of her 5 children 4 are BRCA2 incl myself. One of my sisters developed BC at age 40 and died at 50. Second sister developed BC at age 50 and is a 7 yr survivor. She had breasts and overies removed at diagnosis. I had preventative double mastectomy and hysterectomy at age 60. Pathology report showed atypical ductal hyperplasia. It most likely would have become breast cancer.
It is surprising that our family history indicated OC but my siblings and i had issues in the breasts and our ovaries were fine.
BRCA2 is nothing to dismiss. With our history the doctors told me i had an 85% chance of BC and 50% chancebof OC. I have absolutely no regrets and only wish my sister had known she was BRCA2 so her cancer could have been treated more aggressively before her cancer had spread; killing her.
I have two adult children. One is neg for the gene mutation so i don't have to worry about those grandchildren. Other child has not been tested yet. It weighs heavy on my heart that i may have passed it along.
If your daughters are considering preventative surgery and breast reconstruction know that insurance must cover it in the majority of cases.
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I have had genetic testing done. My grandma my mom and my uncle have all had breast cancer. My sister and my aunt both tested positive for BRCA 2 gene. I was tested May 2016. I tested positive for BRCA 2. This gene is also responsible for breast cancer and ovarian cancer as well. I have a 79% chance of breast cancer and 36% for ovarian.My grandma survived breast cancer and died from ovarian cancer at 52yrs old!! So far everyone in my family who has been tested has tested positive!!!!! I did the testing not just for myself but I have 3 daughters and 2 grand daughters!
I resided to get a prophylactic mastectomy with a DIEP flap reconstruction April 26th 2017. I had a left side DIEP flap failure. There is some issues with fixing it and I am not sure if I will be able to have 2 breasts. Also the incision on my belly has herniated and I will need abdominal wall reconstruction.
I am devastated by the loss of my left breast because my daughters are now terrified!! My mom ALSO had a left side fail!! All three of my girls have not been tested and 1 of them has decided not to get the test done. This is scary to me! The type of breast cancer my mom and grandma had was extremely aggressive. When diagnosed my mom was end stage 3 beginning stage 4 breast cancer. She found a small lump in Sept 2010 she did not go to the doctor until Jan 2011 the lump had grown to 1/2 the size of my fist! She survived!!
My insurance paid for everything THANK GOD!!! Total amount billed $267,000. and I'm not done!!
I'm not sure what suggestions I would give others. I am still right in the middle of the chaos!! I go back and forth whether it was the right choice for me!! I do know this when my mom got breast cancer it was the scariest 5yrs of my life!! I thought I knew about breast cancer and I found out I didn't know crap!!! Nothing important anyway!!!
I guess I would say to do your research on the procedures the surgeons AND the hospital!! I lost my breast due to negligence on the hospitals part!! Time is a HUGE factor for any complication one might have with reconstruction. The hospital is in charge of WHEN things happen!!! The ER staff was not educated about DIEP flaps!! I waited in the ER for 4hrs waiting for an operating room. Meanwhile my breast went from flesh colored to yellow to black!! So make sure EVERYONE involved is qualified!! Also DO NOT go to a state owned hospital!!! They are immune from prosecution and cannot be suid for malpractice. In my opinion this allows them to cut corners that other hospitals would not cut!!
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if I remember correctly I do believe that BRCA passed down from the fathers genes is responsible for very aggressive types of breast cancer, ones that are hard to treat.
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Dear JamminJ, Welcome to the BCO community and thank you for sharing your story with us. We appreciate that you took the time. Let us know if we can help you navigate your way here. The Mods
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thank you for replying. That information alone helps ease my mind
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I had genetic testing after my first diagnosis. I had no family history of breast cancer but because I had a niece dx with cancer at a young age, they said that was a red flag. My genetic testing revealed three cancer syndromes (they said that's rare): Lynch Syndrome, ATM mutation, and APC of unknown variant.
I am SO glad I had this done. I get a yearly colonoscopy/endoscopy and had a prophylactic hysterectomy. Two of my daughters tested positive, as well. They also receive early surveillance, and it's covered by insurance.
Genetic testing saves lives! But I was told by the genetic counselor to get life insurance before you have the testing done.
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I was tested for BRCA back in 2010. Since my diagnosis 3 more of my female cousins in my generation and one in the next were diagnosed with BC. Out of these cousins I am the only one with a daughter. I went to a Mayo geneticist conference and was advised to get the smaller panel tested because the test I had may have been more generic and only tested the big panel of BRCA if it was prior to a certain year. I had it done and do have Chek II. Keep in mind this gene increases prostrate cancer risk as well as colon cancer although not as much as BC. I had a male cousin pass away from prostrate cancer at age 37 and another female cousin die from a cancer only one in a million ever get. My insurance covered the test. I would have been screened as high risk without the test but I wanted to know for my daughters sake at the time. My sons insurance since would not pay to have his panel tested and he was told it would cost $1700.00. My daughter has not been tested yet. I believe if your family history shows high risk even if you are not diagnosed your insurance may or may not cover it. My other cousins have only had BRCA tested. My mom told her doc about this and they didn't do anything to test her. She has had breast cancer 2x herself on two separate occurrences. She is 82 so if this is not going to affect her I guess they didn't want to run it or they already know Medicare would not pay for it. Although at 82 they are no longer doing colonoscopies on her which is concerning to me. She says our great grandmother died from colon cancer. Good to hear more stories. I would like to see more posts about the generation that was tested after you and if the insurance covered the test and what steps the next generation is taking to screen themselves.
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I knew deep in my heart I had bad genes since Moms Ovarian and BC dx. Getting tested for BRCAs was moot point. 10 plus clean mammos blew up and subsequent genetic testing showed variation of PTEN. Surprisingly neg for BRCAs. Thank God Thyroids were removed already due to goiters. Boobs are gone. Uterus w everything else will be gone very soon. Based on blood tests, kidney and liver are more than fine. Colonoscopy just done. Repeat these tests regularly.
All three of my older sisters have no issue. This means I got genes from both of my parents while my sisters got only from one parent. (High school biology lesson) Oh well living must go on.
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What led you to do the testing? My age at the time of diagnosis and the fact that I have a daughter. Knowledge is power.
What were your results and what choices have you made based on the findings? BRCA1 & 2 negative, VUS+
Was payment an issue? No, it was 100% covered
How have you discussed these decisions with your family? Yes, I shared the results with my family
What suggestions would you have for others? Again, knowledge is power. It was a no brainer for me.
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BS and MO suggested at DX. I was and still am in survival mode hence all subsequent procedures and surgeries
Neg for BRCA1 and BRCA2- surprise surprise
Pos for PTEN variation - Thyroid cancer colon cancer breasr ovarian kidney to name a few.
Yes I told my sisters and they will be tested for $300 per person.
We have no children so at least buck stops with me. I have a niece whom I am afraid a lot like me. Problem is she demanded not to be contacted at any cost about a yr ago. She is only daughter to my big sis. So I dont have a heart to tell my big sis that her daughter has a bad gene like I have.
I still think my maker was and still is looking after me because thyroid was gone a few yrs ago and I have at least $2.7 mil of life insurance all obtained way before BC DX. Go figure I got my first life insurance as early as early 30s and as recent as 5 yrs ago. I even crash dieted for the last life insurance I got.
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I was tested for the BRCA Gene at the age of 30 and it came back BRCA2 positive. My mother was diagnosed with BC at the age of 41. She has had a double mastectomy and a full hysterectomy. I have been doing the screening like my breast surgeon and gym oncologist suggest. Every thing has been coming back normal. I'm now 36 years old, and I'm not having any more children. My gyn oncologist suggest that I have a full hysterectomy soon. He feels I should remove ovaries, tubes, and uterus. I was thinking of waiting till I was 40. Should I wait? I'm really concerned with the side effects. I have 2 young children.
Has anyone had a hysterectomy this young? Do you regret it? How were the side effects?
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Hi Teacher, and thanks for sharing with us!
We're sure there are many others here who can weigh in on your circumstances. Please check back in soon for responses!
We look forward to hearing more from you.
--The Mods
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Teacher - Sorry about the bad news, but knowledge is power. Has your gyn onc made any mention of doing a tube removal only for now, and then take the ovaries in a few years? Might be easier on you. I think that many physicians believe OC often starts in the tubes.
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An update to my earlier post: One of my daughter's (age 41) tested positive for Lynch Syndrome - she is now getting annual colonoscopies and having a hysterectomy = life possibly saved by genetic cancer testing. Another daughter was positive for the ATM mutation so now insurance covers her mammo's (she's 29). The 29 year-old only had Medicaid at the time and it paid for her genetic testing.
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First of all I would like to say thank you to the people who put this site together!! To all who have shared there story, My story is not that different than some and yet very different than others. I just joined and am now going through testing and really had no one to talk to about what is going on as I do not want to bring any more fear in my family than what already is here.
My mother passed away from breast cancer 20+ years ago, at the age of 53. Her only sister (my aunt) also passed away at the same age from breast cancer, a few years before my mother. So myself and 2 younger sisters and cousin were told that we needed to watch very closely. It was not until my cousin was diagnosed at the age of 48 that we got in touch with the genetics department here in Alberta. They then discovered all three had the BRCA1/2 gene. I choose not to get tested unless I do have breast cancer. I have 3 daughters, and worry that this is so new that if I did not have the BRCA1/ 2 gene that screening for them would not be as thorough as it should be. I should also mention that my mothers grandmother and grandfather also passed away from cancer but somehow my grandmother did not.
Now I am 53 and have a bloody discharge from my right breast. I have had the mammogram and ultra sound done. The breast specialist wants a galactography done, but when the request was sent in, the Radiologist changed it to a Aspiration instead. Now I am fighting to get that changed and so upset because I can not talk to anyone about it because I am trying to spare them this fear. We have all lived with this black cloud over us and terrified to turn 50... I am the next one in line, then my younger sisters.
I have read a lot of your stories and feel connected to many of you, we all know the black cloud and to a lot of other people that do not have this history it is very hard for them to understand. In our family if you reach the age of 50 every year after is a blessing.
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Hi Calgary, and welcome to Breastcancer.org. We're sorry you're dealing with such worry, but glad you found us and decided to share your story here, thanks! You're sure to get good advice and support from the other members here shortly. Please keep us posted on how you're doing!
Best wishes,
The Mods
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I 100% believe that the genetic testing saved my life, and enabled me to catch my breast cancer right when it started. At the age of 28 my gynecologist started talking to me about the BRCA test due to my strong family history (my grandmother was stage 4 at age 49). I agreed to the blood test, even though there was a risk it wasn't going to be covered under my insurance. We find out a few weeks later i am in fact BRCA 2 positive. The doctors gave me reassurance that just because of the mutation, there could be a chance I would never get cancer. I was relieved in a way this way we could start monitoring my breasts that could be covered under insurance... One year later a few moths after turning the age of 29, masses were found in both breasts. The right side was a fibroid and in the left side there was DCIS (stage 0). I feel if it wasn't tested and started the monitoring process early my life would be completely different.
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My genetic testing story is pretty straight forward. My mother was diagnosed with breast cancer and had her whole genetic panel done. Her Brca 2 was positive. This result sat in a box in the back of my mind for 2 years, until my sister in law lit a fire under my bottom. She is a nurse at a cancer center. I met with a genetic counselor and only had my Brca 2 tested. The cost was fully covered by my insurance as a discount regarding my providers negotiations with that particular insurance company. I paid for the meeting with the counselor. My test came back positive. I was prepared for that result. I’ve had my Fallopian tubes removed previously during a C-section for my youngest. This has definitely taken the stress of ovarian cancer pretty much off the table. I am highly concerned about breast cancer and will probably elect for prophylactic mastectomy. I get my first mammogram in a week. My husband is still not quite getting the ramifications of a positive. Make sure me feel as if im over reacting. My advice would be to be prepared for a positive. Then you will be surprised with a negative. L
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Amaliaanne1-
Thank you so much for sharing your story. It's difficult to get the news, but being able to prepare for the worst (while hoping for the best) is something many positive carriers find comfort in. We wish you the best of luck at your mammogram, please keep us posted!
The Mods
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I decided to get testing done during July of This year. I had just finished chemo/radiation/ and multiple surgeries due to non-hpv stage III cervical cancer. My grandmother passed from breast cancer reoccurance (80), my father passed from prostate cancer (59), my sister passed from Ewing sarcoma cancer (22),paternal cousin glioblastoma (42) I currently have an aunt and a paternal cousin fighting breast cancer.
I tested posiive for Check2 mutation. I also have a rare mutation of this mutation. This does not put me as high of a risk as BRCA just by having it but other factors do and I will explain. Having regular check2 I'm at an increased risk for Breast, colon, lung, and ovarian cancers. There is a great increase risk of prostate for men and stomach cancer as well with the mutation that I have. This would explain my father' death at a young age with a very aggressve prostate cancer. I had a post-radiation hysterectomy June 30 but they left my ovaries behind. I am at an even higher risk than just someone with the normal gene mutation due to one of the major risk factors to cause my mutation to react is radiation and I was served a great big platter of that in the for of external beam radiation and internal (tandem and ovoid) radiation.
I have made the choice to have a prophylactic double mastectomy with reconstructive surgery and will be doing so next week. My nerves are shot and the depression has set in but at 29 years old...i have had to make some decisions to give me the best life possible.
I will have colonoscopies and endoscopies every year from now on.
Now to get my brother tested.
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