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BRCA 1/2 Mutations

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Laura41 View Drop Down
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Post Options Post Options   Thanks (0) Thanks(0)   Quote Laura41 Quote  Post ReplyReply Direct Link To This Post Posted: Aug 25 2010 at 3:37pm

Amy,

I am BRCA1+ (5385insC) too!!!

It would be nice to talk more often. I do have to appologize I have not been on the forum for few months, and this Saturday I am planned for exchange to permanent silicone implants surgery, due to double mastectomy I had in Feb 2010 and immediate reconstruction with expanders.
 
My chemo had long finished, but I started to have join pain and stomach pain in the last months or so.
 
Let me know how are you?
 
Best,
Laura
 
dx 10/2009 @41 TNBC-IDC Stage II Grade 3 3.1cm BRCA1+, 10/2009-01/2010 Bi-weekly dose dense ACx4+Taxolx4, 02/2010 dbl mastectomy axilla disection 12 nodes, immediate reconstruction, 05-06/2010 15xRads
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Tamala View Drop Down
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Post Options Post Options   Thanks (0) Thanks(0)   Quote Tamala Quote  Post ReplyReply Direct Link To This Post Posted: Aug 25 2010 at 4:01pm
I am BRCA- which was a surprise since both my mother and her mother had breast cancer.  I was sure I must have the gene.  I asked me onc if the fact that I am neg. in any way affected my treatment plan and he said "no, but it's good to know."  At the risk of sounding stupid, if it doesn't change anything, what difference does it make?  Also, from what I hear, the PARP inhibitor is for BRCA 1/2+.  So I'm confused; is it better to be postive or negative?  Again, I don't want to appear dumb, but this is all so overwhelming to me.
dx 5/14/10 stage IIB, grade 3; TN IDC; Age 50; 4 cm; 4 AC bi-weekly, 12 Taxol weekly; chemo done 10/15/10; bi mx w/tissue expanders 11/19/10; pCR; 28 rads finished 3/16/11
11/16/12 check-up NED
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trip2 View Drop Down
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Post Options Post Options   Thanks (0) Thanks(0)   Quote trip2 Quote  Post ReplyReply Direct Link To This Post Posted: Aug 27 2010 at 6:47pm
Well if I had a choice I would rather be negative.
 
If you test positive for a brca 1/2 mutation then your risk for breast cancer, ovca, and other c is a much higher risk then if negative.
Also when positive one has to deal with possible surgeries to help drop this risk.  Especially tough on the younger women although I didn't like it at 60, I wasn't dead yet!  So everyone testing positive is a higher risk, facing possibly more surgeries than others and higher risk for cancer to return.  Not a happy place.
There will be a time, I hope soon, when each patient is treated with their own personalized protocol for a variety of reasons but knowing ahead of time you are positive for a brca 1/2 at this point makes a big difference, imho.   http://www.facingourrisk.org
Both times having bc I was treated like most as far as chemotherapy/radiation was concerned.  This was before the Parp and other meds.. I also was treated by a cancer clinic where the Onc knew little of TNBC or the Brca 1/2 mutations.  My activity was brought on by me, my family, not the doc in regard to testing. But I did have a dbl mx which I would not have had otherwise as did my daughter. I had already had a hysterectomy but my daughter had to have her surgery to reduce risk for ovca as well, all of that while going thru bc treatments. Now my 23 yr old who has just started her life is in quite a quandry as to what her future holds.  My heart breaks for her, I am trying to find her the right help.
 
Believe me it makes a big difference to those affected.
 
We have a heavy family history, most are gone.  My daughters tested positive for my brca 1 mutation.  My one and only sibling, my sister tested negative although she did develop Leukemia 2 yrs ago.  Just seems there has to be a gene thing, a family syndrome, I don't know.  We are so tired of seeing cancer eat up our family!
 
Sorry for the rant, this is one of the scary parts of my life......particularly for my children and grandchildren. 


Edited by trip2 - Aug 27 2010 at 7:07pm
Stage 2 2003
Stage 1 2007
BRCA 1+
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SagePatientAdvocates View Drop Down
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Post Options Post Options   Thanks (0) Thanks(0)   Quote SagePatientAdvocates Quote  Post ReplyReply Direct Link To This Post Posted: Aug 27 2010 at 7:17pm
Dear Tammy,

It is much better, in my opinion, to be BRCA-....it means you can't pass the mutation on to your children...you chances for recurrence are lower....and most importantly if you were BRCA1+ (as my daughter and I are) you would be facing a 45% risk of ovarian cancer substantially higher than the 1.5% risk the general population faces..

good luck to you with your treatment..

be happy you are not BRCA+..

all the best,

Steve
I am a BRCA1+ grandson, son and father of women affected by breast/oc-my daughter inherited mutation from me, and at 36, was dx 2004 TNBC I am a volunteer patient advocate with SAGE Patient Advocates
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Post Options Post Options   Thanks (0) Thanks(0)   Quote briestarr Quote  Post ReplyReply Direct Link To This Post Posted: Aug 27 2010 at 7:35pm
I just recieved my BRCA 1 and 2 tests back and it said I had NO MUTATION DETECTED....
DX TNBC Feb 2010
age 48
Lumpectomy 2cm
6 nodes removed, all clear
Chemo A/C and Taxol 8 sessions
Radiation 33x
BRCA 1 and 2 negative
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trip2 View Drop Down
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Post Options Post Options   Thanks (0) Thanks(0)   Quote trip2 Quote  Post ReplyReply Direct Link To This Post Posted: Aug 27 2010 at 7:42pm

Just flat awesome, congratulations....

Stage 2 2003
Stage 1 2007
BRCA 1+
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Post Options Post Options   Thanks (0) Thanks(0)   Quote zoomommy2 Quote  Post ReplyReply Direct Link To This Post Posted: Aug 27 2010 at 7:42pm
Brie,
Great news! 
Lee in Denver
dx6/09,stageII,gr3,(L)mastectomy 7/09,ACx4,Taxolx7,Avastin study,gall bladder surgery 1/10,4/11 Stage 4, mets to lung, 4/11 Started Taxotere and Xeloda, 5/11 Taxotere stopped, off Xeloda
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Post Options Post Options   Thanks (0) Thanks(0)   Quote SusanE1104 Quote  Post ReplyReply Direct Link To This Post Posted: Aug 27 2010 at 7:52pm

Dear Pam,

I just wanted to offer my support and empathy to you and your daughters.  It's so sad that we have to make such choices, but I suppose we should be thankful that we can now know in advance and protect ourselves.  My family has been hit hard too.....all three of my mother's daughters, and one niece is positive....probably some nephews too.  My family had a strong history of different types of cancer, but no previous generations had breast or ovarian that we know of.  Our mother died young in an accident.  My sisters and I all had our children young with no thought of dying young...blissfully unaware.  Makes you wonder which is best. 
 
Brie,  I'm happy for you!
Susan 62 1987 Stage 1   1/09 Stage IV bilat. mast. liver mets BRCA1+ Taxol & Avastin
8/09 NED
12/09 liver mets Taxol/Avastin
4/10 liver mets
11/22 Parp Car/gem
parp failed
2/2011 Ixempra
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SagePatientAdvocates View Drop Down
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Post Options Post Options   Thanks (0) Thanks(0)   Quote SagePatientAdvocates Quote  Post ReplyReply Direct Link To This Post Posted: Aug 27 2010 at 8:03pm
Dear Brie,

truly marvelous news!!!!!!

congratulations!!!!!

all the best,

Steve
I am a BRCA1+ grandson, son and father of women affected by breast/oc-my daughter inherited mutation from me, and at 36, was dx 2004 TNBC I am a volunteer patient advocate with SAGE Patient Advocates
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Tamala View Drop Down
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Post Options Post Options   Thanks (0) Thanks(0)   Quote Tamala Quote  Post ReplyReply Direct Link To This Post Posted: Aug 27 2010 at 8:28pm
Pam and Steve, thank you for your responses.  I'll try to settle down and be savor whatever little bit of good news I get thru all of this. 
 
I'm sorry that your daughters are going thru this.  I also have a 23-year-old daughter that I worry about.  My onc had told me that if I tested positive for BRCA, my daughter should have her breast tissue removed by age 30.  She was so upset when I told her that--she wants to get married, have children, and breastfeed some day.  I will ask my onc what his recommendation is for her now.  I do still worry about a hereditary connection though.  Both my mom and her mother had breast cancer.  I just think all three of us having it is more than just a coincidence.
 
I didn't realize that my chances of recurrance are lower along with a lower risk for ovarian cancer.  When my onc said this didn't change my treatment plan, I thought I would still need to get an ooph.  Maybe he meant it wouldn't change my chemo treatment plan.  I will have to discuss this more with him.  As you know, there's just so much to know and consider and, as I've said many times before and I'm sure everyone here knows, it's overwhelming.
 
Brie, congratulations!  As you can see from my earlier post and the responses I received, this is really good news!
dx 5/14/10 stage IIB, grade 3; TN IDC; Age 50; 4 cm; 4 AC bi-weekly, 12 Taxol weekly; chemo done 10/15/10; bi mx w/tissue expanders 11/19/10; pCR; 28 rads finished 3/16/11
11/16/12 check-up NED
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trip2 View Drop Down
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Post Options Post Options   Thanks (0) Thanks(0)   Quote trip2 Quote  Post ReplyReply Direct Link To This Post Posted: Aug 27 2010 at 8:29pm
Susan thank you for writing.  With all that you are going thru you show your love and support for others.
It meant alot to me, you post, as this is such a touchy time for me with my youngest looking for help.
All the things rolling in my mind, how could I have done this to my children/grandchildren although I know it isn't my fault, just scares me to death for them and I do feel angry at myself/frustration/helpless to fix for them.
 
I feel terribly bad for you that your family also has been so affected by cancer.  It is painful when you look around, so many gone, those here dealing with it, fighting, trying to win the battle, too young.
 
I understand your thought about "blissfully unaware".  That about captures my first bc experience.  Sometimes it just gets to be too much, think I will call it a night but can't tell you how much I appreciate your writing, you understand.
 
Love
Stage 2 2003
Stage 1 2007
BRCA 1+
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trip2 View Drop Down
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Post Options Post Options   Thanks (0) Thanks(0)   Quote trip2 Quote  Post ReplyReply Direct Link To This Post Posted: Aug 27 2010 at 8:45pm
Hi Tamala,
 
One thing I want you to know is that you can ask whatever question you have on your mind.  This is the only way we will learn.'
 
You are right, it is all very overwhelming, especially at first, trying to learn what we need to know about this disease, treatment decisions, etc..  With questions and research, looking thru the forum with time we begin to get a grip on what is going on but yes, it takes time.
 
I apologize if I came on heavy, having a hard time with this mutation thing, not your fault.Smile
 
You are also right when you say you'll take any good news that comes your way, no kiddingThumbs Up
 
When you have alot of bc in your family, no mutation, to me, I'm no medical person, but it still seems
there is some kind of link somewhere.  I would think good monitoring, vigilance would be in order.  It's too bad your daughter couldn't get counseling in regard to her family history.  I think I gave you this website, http://www.facingourrisk.org   They do talk about family history but neg for mutation in their website, you might check it out.
When she begins to see a Gyn or if she already does she needs to discuss this with her doc, they may send her to a Gyn/specialist or Gyn/Oncologist as a possibility, or crank up her monitoring as she gets a little older, I don't know w/o the mutation but definitely she needs to discuss it with her Gyn.
 
Your Oncologist can explain all of this better than I of course but we are always here to help if we can.
Stage 2 2003
Stage 1 2007
BRCA 1+
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Post Options Post Options   Thanks (0) Thanks(0)   Quote SagePatientAdvocates Quote  Post ReplyReply Direct Link To This Post Posted: Aug 27 2010 at 9:00pm
Dear Tammy,

If you are BRCA negative your daughter cannot be positive...unless her father is positive and she inherited the mutation from him..

if heavy family hx on dad's side of breast/ovarian cancer he should be tested for BRCA

absent that, in my unprofessional opinion, there is no need for her to worry about BRCA..

also, if you have a heavy family history of breast/ovarian cancer there may be another gene (undiscovered) that might put her at risk...if that is the case I would have her look into a high-risk program, even though you are BRCA-, and see what is recommended for her..

My youngest daughter did not inherit the gene and we have been told that she is at "normal" risk for breast cancer (about 14%) and ovarian cancer (about 1.5%)..

the other thing to be concerned about would be if you had a lot of colon cancer in your family especially at young ages...then something called Lynch Syndrome could be involved and then there is an above average chance(10%) for ovarian cancer a 50% chance for uterine cancer and an 80% chance for colon cancer. It is a nasty mutation..


so please rest easy about your daughter unless something else is going on in your family/her dad's history. If so, please see a Certified Genetic Counselor. Please don't rely on anything I say as medical advice. The best professional to see, in my view, to discuss your family's cancer history is a Certified Genetic Counselor who can then make recommendations.

wishing you all good luck.

all the best,

Steve




Edited by steve - Aug 28 2010 at 10:06am
I am a BRCA1+ grandson, son and father of women affected by breast/oc-my daughter inherited mutation from me, and at 36, was dx 2004 TNBC I am a volunteer patient advocate with SAGE Patient Advocates
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Post Options Post Options   Thanks (0) Thanks(0)   Quote amylynn Quote  Post ReplyReply Direct Link To This Post Posted: Aug 28 2010 at 8:11am

Laura,

  Hi.  Hope all goes well with the exchange and recovery is easy.  Sorry to hear about the pains, hope the go away soon. 
 
 I finsished radiation in July and now am planning my reconstruction/remove left breast/oopherectomy for Nov.  I went to the breast surgeon for a follow up from my mastectomy from last year and saw the nurse practioner who says she felt a 1.5 cm lump in my left breast.  I can't feel it and she didnt seem that worried, but I am.  I have a mammo/ultrasound scheduled for Friday and I am going to call my onclogist to see what he thinks, but the thought that this could start again..Confused.  Hopefully its nothing, but it will be a long week.
 
 Keep in touch and take care of yourself!
 
Amy
36 at dx IDC 2/09, 8cmx3cm grade 3,BRCA1, Cl Trial-4- Taxotere,4-AC,6-Avastin,4 cycl Xeloda
9/09-rght mast.w/tissue exp
PCR
Avastin x10,28 rads,done 7/10
left mast/w bi-lat DIEP & OOPH
Mets 6/2012
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Post Options Post Options   Thanks (0) Thanks(0)   Quote steph Quote  Post ReplyReply Direct Link To This Post Posted: Dec 31 2010 at 12:58pm
brca2, y803x, germline not wild-type.  I called Myriad 2 years ago and my specific mutation had been found only 6 times.  (now, 7 as my little sister has it)  I cannot find anyone with this mutation and would love to know more as my father was adopted.  I also know that as opposed to missing a letter at the 707th position, my line actually stops.  I plan to call Myriad again.  
dx Sept 4 2007
IDC Stage 2T N1
BRCA2+ Y803X germline
4 A/C 4 Taxol
Bilateral Mastectomy 2-15-08
5 nodes Negative
Finished Rads 5-20-08
DaVinci Salpingo Ooph 4-2009
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Post Options Post Options   Thanks (0) Thanks(0)   Quote Lulu Quote  Post ReplyReply Direct Link To This Post Posted: Feb 26 2011 at 10:27pm
I tested negative in the BRCA3 research trial after my first breast cancer in 2006 but got re-tested in 2010 after i got then second tumour and was found to be BRCA2 carrier... my mutation is c.2409T>G on exon 11.

i got it from my dad and have no family history on his side was only because of personal history and mum and great gran had BC but negative for the mutation.

son 16 and daughter 19 have a 50% risk of inheriting it but not been tested yet.

i work as a breast care nurse in genetic screening.
04/06-13mm,ER+, gd1, stg1,R WLE, rads
05/09-19mm,TNBC,gd3,stg1,LVI,L WLE,E-CMF,rads
01/10-BRCA2+ c.2409T>G
09/10-TAH&BSO
08/11-IPL nodes -L WLE- tax/carbo, Rads
08/13-R lung & LN mets. ENCHANT trial
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Post Options Post Options   Thanks (0) Thanks(0)   Quote briestarr Quote  Post ReplyReply Direct Link To This Post Posted: Feb 27 2011 at 1:31am
I haven't checked in for a while...  so, here it is!!  Hello everyone!  I pray for all of you all the time!  I am thankful I am doing very well!  I have been back to work now for 7 months now and it is going well... all tests are good and I am clean from Cancer all together!!  The sernoma is shrinking and so is my boob is shrinking....any advice??
DX TNBC Feb 2010
age 48
Lumpectomy 2cm
6 nodes removed, all clear
Chemo A/C and Taxol 8 sessions
Radiation 33x
BRCA 1 and 2 negative
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Post Options Post Options   Thanks (0) Thanks(0)   Quote SagePatientAdvocates Quote  Post ReplyReply Direct Link To This Post Posted: Feb 27 2011 at 1:59am
Dear Lulu,

excellent conference in London 9-11 March...I am coming on the 10th..


just in case you can make it would love to meet you..

I am sending you a PM with my contact info..

Dear steph,

seems like many folks with rare alleles...

all the best,

Steve
I am a BRCA1+ grandson, son and father of women affected by breast/oc-my daughter inherited mutation from me, and at 36, was dx 2004 TNBC I am a volunteer patient advocate with SAGE Patient Advocates
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Post Options Post Options   Thanks (0) Thanks(0)   Quote Charlene Quote  Post ReplyReply Direct Link To This Post Posted: Feb 27 2011 at 7:53am
I am BRCA negative.  My report states "No Mutation Detected."  But, according to a recent study done at M.D. Anderson (Science Daily, Sept. 30, 2010) "Patients with TNBC that also have mutations in the BRCA gene appear to have a lower risk of recurrence, compared to those with the same disease without the deleterious genetic mutation." So, I don't think the news is all bad, if you are BRCA+.
 
Charlene
DX 3/10 @59 ILC/TNBC
Stage 1, Grade 2, Multifocal; Lumpectomy/re-excision
SNB 0/4 nodes, BRCA-; Taxotere/Cytoxan X4, 30 rads
3/14:NED
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Post Options Post Options   Thanks (0) Thanks(0)   Quote Barbi Quote  Post ReplyReply Direct Link To This Post Posted: Feb 27 2011 at 9:25am
Lulu,
How can that be?  Was the test different? Are we smarter now than then?  I was tested in January, but did not do the BART testing, which tests for an even rarer subset of the BRCA gene, but mine was negative.  Do we all need to find out what kind of test was done? Any info would be appreciated. Thanks, Barbi
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