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VARIATION IN BRCA2 GENE
Hello to everyone.... I have been blessed to find this forum, as a breast cancer survivor in 2009, I had much help and support - thanks so much to Japdip, zouzi, sueyoung, bluebutterfly and many others. You have been so wonderful. I am so sorry, but I don't know how to continue my thread from 3 years ago... so I am starting a new one. Hope this is ok. Just to refresh your memory - my sister and I were diagnosed with bc in 2009 weeks apart (first mamo's for both of us). I had a double mastecomy, high grade dcis (12 cm in the left breast) and a small area of lcis in the right breast. There was no spread or invasive component so I was fortunate to not have to have chemo or radiation. I am however on tamoxifen for 5 yrs. Because my sister and I both had bc, we were recommended to have the BRCA test done. My sister chose not to have it done. I had it done in 2010, the results here in Canada take one year to come in. Therefore I received my results in February 2011.
The results came in as follows:
Interpretation: Variant of unknow clinical significance identified
Results of this assay were negative in that no demonstrated pathogenic changes were identifed (copy number changes included). A single unclassified variant was identifed in Exon 3 of BRCA 2 (BRCA2:c280 T,r.?,p94S) As the effect, if any of this variant on oncogenesis is not known, targeted carrier sc reening of other family members is not warranted at this time (ACMG category 3 variant) This result does not preclude the possibilty that a deleterious mutation is segregating in other members of this family. Depending on this patent's family history, mutation screening of family members may be appropriate. Such an assessment may be initiated by referral to the clinical genetics unit with the jurisdiction in which the at risk family member resides. Please note this specimen will be retained in accordance with current laboraty guidelines. Note that this variant is listed in the BIC database as having unknown clinical importance, and is listed in dbSNP (rs80358531) although no heterozygosity information is available.
Here is my dilemma....
When I received the results they were not able to confirm that I did infact not have the BCRA2 gene due to the variant (above). I had a chat with the oncologist and we decided it was a good idea to remove my tubes. As a result I went in for surgery in the spring of 2011. The gyno apparently explored my ovaries/tubes prior to doing the surgery and found that my bowels are fused to my ovaries (where my appendix was - this was caused by having my appendix removed in Italy while on vacation when I was ten years old). The fusing is from severe scarring. The gyno did not proceed with the surgery as he said that this would be a rather huge surgery - more time was needed and if he took a chance, there was a possibility that I could have ended up with a "bag". I met with the gyno to follow up and he said that the surgery would be a huge risk and that he would need assistance from another surgeon as well as a much longer procedure. He said that since I am on tamoxifen and am now 51 that I would go into menopause and perhaps do without the surgery,
Today, I went to see my oncologist for my six month check up. The orig oncologist has retired and this is a new one. He immediately brought up this "variant" and said that I needed to have this surgery done as he feels that there is a high percentage of me getting ovarian cancer.
I called the cancer genetics and spoke to a counsellor today and she said - she would send my results back to the lab to see if there is anything new on this so called "variant" to determine if it is a benign variant or if it poses a threat to actually being a mutant gene that may cause ovarian cancer.
I am beside myself and am so confused. I have made an appt with the gyno again but that isnt until the end of Aug and the cancer genetics will not be able to give me an answer for a few weeks or so.
I am wondering if any of you are aware of this particular "variant" and should I insist in getting the surgery done? despite the risks??
I thank you all so much for your help and support. I greatly appreciate it.
sincerely
Tina
The results came in as follows:
Interpretation: Variant of unknow clinical significance identified
Results of this assay were negative in that no demonstrated pathogenic changes were identifed (copy number changes included). A single unclassified variant was identifed in Exon 3 of BRCA 2 (BRCA2:c280 T,r.?,p94S) As the effect, if any of this variant on oncogenesis is not known, targeted carrier sc reening of other family members is not warranted at this time (ACMG category 3 variant) This result does not preclude the possibilty that a deleterious mutation is segregating in other members of this family. Depending on this patent's family history, mutation screening of family members may be appropriate. Such an assessment may be initiated by referral to the clinical genetics unit with the jurisdiction in which the at risk family member resides. Please note this specimen will be retained in accordance with current laboraty guidelines. Note that this variant is listed in the BIC database as having unknown clinical importance, and is listed in dbSNP (rs80358531) although no heterozygosity information is available.
Here is my dilemma....
When I received the results they were not able to confirm that I did infact not have the BCRA2 gene due to the variant (above). I had a chat with the oncologist and we decided it was a good idea to remove my tubes. As a result I went in for surgery in the spring of 2011. The gyno apparently explored my ovaries/tubes prior to doing the surgery and found that my bowels are fused to my ovaries (where my appendix was - this was caused by having my appendix removed in Italy while on vacation when I was ten years old). The fusing is from severe scarring. The gyno did not proceed with the surgery as he said that this would be a rather huge surgery - more time was needed and if he took a chance, there was a possibility that I could have ended up with a "bag". I met with the gyno to follow up and he said that the surgery would be a huge risk and that he would need assistance from another surgeon as well as a much longer procedure. He said that since I am on tamoxifen and am now 51 that I would go into menopause and perhaps do without the surgery,
Today, I went to see my oncologist for my six month check up. The orig oncologist has retired and this is a new one. He immediately brought up this "variant" and said that I needed to have this surgery done as he feels that there is a high percentage of me getting ovarian cancer.
I called the cancer genetics and spoke to a counsellor today and she said - she would send my results back to the lab to see if there is anything new on this so called "variant" to determine if it is a benign variant or if it poses a threat to actually being a mutant gene that may cause ovarian cancer.
I am beside myself and am so confused. I have made an appt with the gyno again but that isnt until the end of Aug and the cancer genetics will not be able to give me an answer for a few weeks or so.
I am wondering if any of you are aware of this particular "variant" and should I insist in getting the surgery done? despite the risks??
I thank you all so much for your help and support. I greatly appreciate it.
sincerely
Tina
Best Answer
Yes, I understand the confusion you must feel, after getting conflicting recommendations in regard to the need for this surgery. (And what I meant by "risky" was exactly what you fear--damage to the bowel that might require a "bag.")
Would it be possible under your medical system to have a 2nd opinion consult with another oncologist for help in deciding whether this surgery is indicated?
(I don't understand how your current oncologist can be so insistent that it is needed, when it is not even known if you even have a deleterious variation in the first place!)
Sorry we don't have any answers to your dilemma, but know that you are in our thoughts and prayers.
bb
Would it be possible under your medical system to have a 2nd opinion consult with another oncologist for help in deciding whether this surgery is indicated?
(I don't understand how your current oncologist can be so insistent that it is needed, when it is not even known if you even have a deleterious variation in the first place!)
Sorry we don't have any answers to your dilemma, but know that you are in our thoughts and prayers.
bb
BB
What you just stated is exactly what my results indicate. They don't know which of the two I have - if it is a deleterious change or a variant. Apparently Cancer Genetics will be forwarding the results to the lab again to see if there is any update on my status. I was told when I rec'd my results a year ago that I should be making contact with them on a regular basis to determine if there is any news with the type of "variant of uncertain significance" that was identified.
At the end of the day its really not the surgery that scares me, but the risk it poses with respect to my bowels due to the scar tissue left behind when my appendix was removed 40 years ago in Italy. As a result bowels/ovaries all seem to be fused together, and there is a risk of perforating the bowels if this surgery was done (resulting in having a "bag"). The gyn said that he would need to have another dr assist and that they would have to remove and shave the bowles/ovaries in order to proceed with the surgery. He felt it was an extremely risky surgery and did not recommend it. The tamoxifen would take care of the problem according to him Now I am being told otherwise.
Anyways, you are all such a wealth of knowledge, I really can't tell you how grateful I am to have come in contact with such wonderful supportive people. There have been many days, where I have felt so alone, depressed and devasted with all that has happened to me. It is this site and all you wonderful ladies that bring me back up.
Thank you......
Warm regards
Tina
What you just stated is exactly what my results indicate. They don't know which of the two I have - if it is a deleterious change or a variant. Apparently Cancer Genetics will be forwarding the results to the lab again to see if there is any update on my status. I was told when I rec'd my results a year ago that I should be making contact with them on a regular basis to determine if there is any news with the type of "variant of uncertain significance" that was identified.
At the end of the day its really not the surgery that scares me, but the risk it poses with respect to my bowels due to the scar tissue left behind when my appendix was removed 40 years ago in Italy. As a result bowels/ovaries all seem to be fused together, and there is a risk of perforating the bowels if this surgery was done (resulting in having a "bag"). The gyn said that he would need to have another dr assist and that they would have to remove and shave the bowles/ovaries in order to proceed with the surgery. He felt it was an extremely risky surgery and did not recommend it. The tamoxifen would take care of the problem according to him Now I am being told otherwise.
Anyways, you are all such a wealth of knowledge, I really can't tell you how grateful I am to have come in contact with such wonderful supportive people. There have been many days, where I have felt so alone, depressed and devasted with all that has happened to me. It is this site and all you wonderful ladies that bring me back up.
Thank you......
Warm regards
Tina
You are certainly welcome.
The part that I found most interesting was, "Some people receive a BRCA test result called a 'variant of uncertain significance.' This means that, at the time of testing, the laboratory cannot determine whether the gene change is a 'deleterious change,' which increases the risk for cancer, or a variant which does not increase cancer risk."
It would be a shame for you to be put through a major and risky surgery, if your variation is not even of the deleterious type. :-(
Hope you will receive information which will help you make this difficult decision.
Best wishes,
bb
The part that I found most interesting was, "Some people receive a BRCA test result called a 'variant of uncertain significance.' This means that, at the time of testing, the laboratory cannot determine whether the gene change is a 'deleterious change,' which increases the risk for cancer, or a variant which does not increase cancer risk."
It would be a shame for you to be put through a major and risky surgery, if your variation is not even of the deleterious type. :-(
Hope you will receive information which will help you make this difficult decision.
Best wishes,
bb
Thank you both so much for your warm wishes. BB the site that you recommended is absolutely phenominal. So informative. Thank you, thank you. I am awaiting a call back from the cancer genetics within two weeks or so, and will see the gyn again at the end of Aug... so I will keep you posted with the outcome.
Bless you.
Tina
Bless you.
Tina
Hi Tina,
I also remember you very well and I am happy to know that you are doing well under the circumstances
I really have nothing to add on bb's excellent suggestion and the informative link she has kindly provided for you.
I just wanted to thank you for updating us and to wish you the very best and continuing good health.! :)
I also remember you very well and I am happy to know that you are doing well under the circumstances
I really have nothing to add on bb's excellent suggestion and the informative link she has kindly provided for you.
I just wanted to thank you for updating us and to wish you the very best and continuing good health.! :)
Hi again,
Here is a link to a discussion of BRCA testing.For info related to your situation, click on the section "Variants of uncertain significance."
http://www.facingourrisk.org/info_research/hereditary-cancer/genetic-testing/index.php
bb
Here is a link to a discussion of BRCA testing.For info related to your situation, click on the section "Variants of uncertain significance."
http://www.facingourrisk.org/info_research/hereditary-cancer/genetic-testing/index.php
bb
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Yes, I remember you well! So nice to hear from you again.
I'm glad to hear you are doing okay following your bilateal mx, and are now lowering your risk with tamoxifen.
I'm not sure anyone here will know much about unclassified gene variants in BRCA1 and BRCA2 mutatation testing, since we deal primary with BC and not genetics. I would suggest continuing to try to get information and recommendations from the genetic counselor and oncologist. (There is also a MH Expert Forum for Genetic Disorders where you could post a question, but I don't know whether this issue would be covered there.)
That said, personally, I would be concerned about the risk/benefit ratio of undergoing such a large and risky surgery...
Please keep us updated about your situation--we care!
Warmest regards,
bluebutterfly