Onco score 7,Genetic reoccurence increased by 30%, please help

tmichigan3232
tmichigan3232 Member Posts: 5


I'm really scared and very confused. My onco score came back as 7 so my oncologist put me on Tamoxifen for 10 years and said I did not need Chemo because it wouldn't make a big difference.  Now my Genetic work up has come back and they located a gene called NBN which increases my reoccurrence by 30%.  From my understanding, average is 12% so I am now 2.5% more likely for reoccurrence. My oncologist called today and said that they want to see me at 12:30pm tomorrow,  I'm wondering if during my visit tomorrow my oncologist will recommend Chemo but I have no idea who to ask or if any of you have ever had the same scores as I have. I am ER+ (84%), I am PR+ (71%) I am Ki-67 (M1B1) high (32%) and Her2- (9.0 negative).Approximately 20% of my tumor was composed of solid and cribniform-type DCIS, in situ and invasive ductal carcino, invasive tumor is Bloom-Richardson nuclear grade = 2.  I hade a double mastectomy done on July 14 with 3 lymph nodes removed that tested negative for cancer and I am currently under going reconstruction with expanders. 

Comments

  • lekker
    lekker Member Posts: 594
    edited August 2014

    Let us know what you find out.  My understanding is that certain NBN mutations increase your risk of developing breast cancer (which you already have).  I don't know how they use that information to calculate your risk of recurrence though.  From the info I found (copied below), NBN mutations interfere with DNA repair and the immune system, so I would think radiation wouldn't be a good idea and chemo - unless clearly indicated - would also be out.  The good news is that the molecular profile of your tumor as measured by OncotypeDX shows a very low risk of distant recurrence - but of course that doesn't take into account the NBN.  I hope your oncologist can shed some light.  I would consider asking for a referral to a geneticist (MD - not a genetic counselor) that has some experience with managing patients with NBN mutations. 


    breast cancer - associated with the NBN gene

    Recent studies suggest that certain inherited changes in the NBN
    gene may be associated with an increased risk of developing breast
    cancer. The c.657_661del5 mutation that is commonly seen in people with
    Nijmegen breakage syndrome is thought to increase the risk of breast
    cancer in people who have one copy of the mutation in each cell. It is
    estimated that people who have the c.657_661del5 mutation have a
    threefold increased risk of developing breast cancer compared to
    individuals who do not have this mutation. A few other mutations in the NBN gene have also been associated with an increased risk of developing breast cancer. Researchers believe that the NBN
    gene mutations associated with breast cancer prevent nibrin from
    responding effectively to DNA damage. As defects accumulate in DNA, they
    can trigger cells to grow and divide uncontrollably, causing cancer.

    other cancers - associated with the NBN gene

    Inherited mutations in the NBN gene
    have also been associated with several other types of cancer. Studies in
    Eastern European populations reported that people with mutations in one
    copy of the NBN gene in each cell may
    be more likely to develop prostate cancer, ovarian cancer, an aggressive
    form of skin cancer (melanoma), or cancer of blood-forming cells
    (leukemia) than people who do not carry NBN mutations. Cells with a mutation in one copy of the NBN
    gene do not repair DNA as effectively as cells without these mutations.
    It is thought that DNA damage accumulates over time, which can trigger
    cells to grow and divide uncontrollably and increase the risk of
    developing cancer.

    From

    http://ghr.nlm.nih.gov/gene/NBN

  • Nan54
    Nan54 Member Posts: 93
    edited August 2014

    What genetic test did you take? I only had BRCA and BART testing and am wondering if I should have had more??

  • lekker
    lekker Member Posts: 594
    edited August 2014

    Nan - do you have a genetic counselor?  If not, you should ask for a referral to one.  He/she can explain why you had the tests you did and if further testing is indicated.  I was tested for BRCA including BART with Myriad, then the Broca panel out of the University of Washington and no mutations were found.  I worked with a genetic counselor from the beginning - she and the geneticist spent a lot of time with me to figure out the correct path.

  • tmichigan3232
    tmichigan3232 Member Posts: 5
    edited August 2014

    hi Nan54   The genetic testing I had done was called Breast/Ovarian cancer panel, which is a panel that examines 21 genes (including BRAC1 and BRAC2) that have been implicated in hereditary breast and/or ovarian cancer.  These 21 genes range in prevalence (the likelihood of finding mutation) and their penetrance (the lifetime risk of breast cancer if mutation is found).  Results take about four weeks,  the test included BART, BRAC 1 and BRAC2.  I also had the Breast Cancer High Risk Panel completed. This test concentrates on breast cancer genes that are clinically actionable, or would change your screening or management of breast cancer. The genes in this test included BRAC1, BRAC2, PTEN, TP53, CDH1 and STK11.  The other 15 genes included in the Breast/Ovarian test are not included in this test.  Out of all the 21 genes, I only had the NBN gene come back positive.  I hope this helps. 

  • tmichigan3232
    tmichigan3232 Member Posts: 5
    edited August 2014

    hi Lekker. My oncologist said she would keep my treatment the same I am premenopausal because I had a partial hysterectomy in 2007 due to stage 3 dysplashia so no real way to avoid hitting it early.  I meet with my genetic counselor on sept 2 to talk about the  NBN gene     Thank you so much for all of the information I shared it with my husband and he felt better as well.   I hope I am doing everything right and I thank god everyday when I wake up for allowing me one more day to enjoy life and my family and meet new people such as all of you on this site.  Thank you again.  

  • Srh242
    Srh242 Member Posts: 328
    edited August 2014

    interesting thread . I might need more genetic tests .How old are u tmichogan32?

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