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BRCA 1/2 Mutations

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trip2 View Drop Down
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    Posted: Aug 08 2010 at 6:08pm
Hi, I am hoping we can get a list going here showing brca 1/2 mutations from the members affected.
 
It would be interesting to see how many members we have and what their mutations might be.
 
Thanks for participating.
 
I have a brca 1 mutation--2594delC
Stage 2 2003
Stage 1 2007
BRCA 1+
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SusanE1104 View Drop Down
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Post Options Post Options   Thanks (0) Thanks(0)   Quote SusanE1104 Quote  Post ReplyReply Direct Link To This Post Posted: Aug 08 2010 at 7:28pm
I am BRCA 1 positive.
 
Susan
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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Post Options Post Options   Thanks (0) Thanks(0)   Quote nmunoz Quote  Post ReplyReply Direct Link To This Post Posted: Aug 09 2010 at 12:28am
I have BRCA1 mutation 5210delTG.

Best,

Natalia
Natalia, 38 years

Dx TNBC 10/22/08, BRCA1+

Double Mx 11/20/08 with Recon.

3/37 nodes

Rads 7 weeks done 8/09

ACx4 every 2 weeks and Tx12 weeks. Avastin e/3 weeksx10 (Clinical Trial) Done Dec/09
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Post Options Post Options   Thanks (0) Thanks(0)   Quote Ghostie Quote  Post ReplyReply Direct Link To This Post Posted: Aug 09 2010 at 2:12pm
I am BRCA 2 positive.
Age 49, DX 8/27/09, 1.8cm, Stage I, Grade 3; lumpectomy 9/21/09, clear margins, 2 nodes removed, BRCA2+, Oncotype score 67. Finished 4 DD A/C + 4 DD Taxol on 3/18/10. Completed radiation in June 2010
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Post Options Post Options   Thanks (0) Thanks(0)   Quote Susie Quote  Post ReplyReply Direct Link To This Post Posted: Aug 09 2010 at 2:20pm
I am BRCA2 positive.
dx 10/08,age 56,.75 cm. Stage1 Grade3,lumpectomy,SN neg..,AC 12/08-02/09,35rads,03/09-05/09,BRCA2+(E1415X),06/09,oophorectomy 10/09,
Zometa - IV/mo.,07/09-08/10, lumpectomy #2 10/20/10 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 09 2010 at 7:05pm
Thank you guys for posting.  Those of you who didn't include your actual mutation number,
would you please re-post with that information?
 
Appreciate it...
Stage 2 2003
Stage 1 2007
BRCA 1+
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SusanE1104 View Drop Down
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Post Options Post Options   Thanks (0) Thanks(0)   Quote SusanE1104 Quote  Post ReplyReply Direct Link To This Post Posted: Aug 09 2010 at 8:47pm
Denise,  I didn't think I had that info, but I found this:  BRCA 1 185insA    Hope that's waht you wanted.
 
Susan
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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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 11 2010 at 6:13pm
Hi Susan,
 
Bet that is it, thanks!
Stage 2 2003
Stage 1 2007
BRCA 1+
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Post Options Post Options   Thanks (0) Thanks(0)   Quote outnumbered Quote  Post ReplyReply Direct Link To This Post Posted: Aug 11 2010 at 7:15pm
I am BRCA1 187delAG
~Sara

DX @ age 40 6/24/08 Stage 1 Grade 3 BRCA1+ 187delAG

BMX (nipple-areola-sparing) 8/5/08

Redo BMX (remove nipple and areola) w/ Lat Flap 7/6/09

BSO 9/3/09

NED since 08/05/2008
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Susie View Drop Down
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Post Options Post Options   Thanks (0) Thanks(0)   Quote Susie Quote  Post ReplyReply Direct Link To This Post Posted: Aug 16 2010 at 1:23pm
I am :    E1415X
 
It said BRCA2 protein at amino acid position 1415.
 
BRCA2 positive
 
I hope this is what you wanted.
 
Susie


Edited by Susie - Aug 16 2010 at 1:24pm
dx 10/08,age 56,.75 cm. Stage1 Grade3,lumpectomy,SN neg..,AC 12/08-02/09,35rads,03/09-05/09,BRCA2+(E1415X),06/09,oophorectomy 10/09,
Zometa - IV/mo.,07/09-08/10, lumpectomy #2 10/20/10 NED
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Post Options Post Options   Thanks (0) Thanks(0)   Quote amylynn Quote  Post ReplyReply Direct Link To This Post Posted: Aug 16 2010 at 3:21pm
 I am BRCA 1  (5385insC)
 
 
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 Susie Quote  Post ReplyReply Direct Link To This Post Posted: Aug 17 2010 at 11:00pm
Interesting, most are BRCA1+ instead of BRCA2..
dx 10/08,age 56,.75 cm. Stage1 Grade3,lumpectomy,SN neg..,AC 12/08-02/09,35rads,03/09-05/09,BRCA2+(E1415X),06/09,oophorectomy 10/09,
Zometa - IV/mo.,07/09-08/10, lumpectomy #2 10/20/10 NED
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Post Options Post Options   Thanks (0) Thanks(0)   Quote spuckie Quote  Post ReplyReply Direct Link To This Post Posted: Aug 17 2010 at 11:54pm
Hello
 
I am brca 1
w1815X
 
Thanks
sue
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Post Options Post Options   Thanks (0) Thanks(0)   Quote SagePatientAdvocates Quote  Post ReplyReply Direct Link To This Post Posted: Aug 18 2010 at 11:38am
Hi Pam,

important thread..

I am BRCA1(187delAG)+....this is also called BRCA1(185delAG). 

I passed this mutation on to my daughter...

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 trip2 Quote  Post ReplyReply Direct Link To This Post Posted: Aug 21 2010 at 7:05pm
I'm so glad you all are posting.  Yes Susie, you have it right.
Stage 2 2003
Stage 1 2007
BRCA 1+
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Post Options Post Options   Thanks (0) Thanks(0)   Quote northerngal Quote  Post ReplyReply Direct Link To This Post Posted: Aug 23 2010 at 10:25am
Pam I am BRCA 1 + 3889 deletion A-G-from my research some mutations have a higher percentage for breast and ovarian cancer as well. I went in for risk reduction oophorectomy  a year ago and they found stage 3 fallopian tube cancer.  Had I not know of this gene mutation, I would never had had the "risk reduction "  surgery, and my prognosis would probably be pretty bleak. 
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Post Options Post Options   Thanks (0) Thanks(0)   Quote Susie Quote  Post ReplyReply Direct Link To This Post Posted: Aug 23 2010 at 8:20pm
I just found out today that my brother, Sam, has tested positive for the BRCA2 gene mutation. he has one son and one daughter. His daughter, 37, who is trying to get pregnant, is going to be tested soon!. In my family, my grandfather, who we think had the gene mutation and died from pancreatic cancer, had 4 children. Of those 4 children, one being my father, 3 had the BRCA2 gene mutation.. Scary, huh?
dx 10/08,age 56,.75 cm. Stage1 Grade3,lumpectomy,SN neg..,AC 12/08-02/09,35rads,03/09-05/09,BRCA2+(E1415X),06/09,oophorectomy 10/09,
Zometa - IV/mo.,07/09-08/10, lumpectomy #2 10/20/10 NED
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Post Options Post Options   Thanks (0) Thanks(0)   Quote trip2 Quote  Post ReplyReply Direct Link To This Post Posted: Aug 23 2010 at 8:49pm
Hi Susie, yes I feel it is scary too.  I'm sorry your family is dealing with this although it is so good that your brother tested.  Now his children can test and be aware/vigilant.   I feel really bad for those women who are starting their lives, maybe haven't had a family yet.
It is a jolt to open that result or be told you are positive, no doubt about it. 
It's the weirdest thing really, we need to know if we have a mutation but then if we do we have another load of worries.
Stage 2 2003
Stage 1 2007
BRCA 1+
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Post Options Post Options   Thanks (0) Thanks(0)   Quote Susie Quote  Post ReplyReply Direct Link To This Post Posted: Aug 23 2010 at 10:54pm
It's a "catch 22"!!
dx 10/08,age 56,.75 cm. Stage1 Grade3,lumpectomy,SN neg..,AC 12/08-02/09,35rads,03/09-05/09,BRCA2+(E1415X),06/09,oophorectomy 10/09,
Zometa - IV/mo.,07/09-08/10, lumpectomy #2 10/20/10 NED
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Post Options Post Options   Thanks (0) Thanks(0)   Quote zoomommy2 Quote  Post ReplyReply Direct Link To This Post Posted: Aug 23 2010 at 11:29pm
Northerngal,
How fortunate that you had the surgery when you did!
Susie,
Your brother's children should both be tested, but especially his daughter now that she's trying to get pregnant.
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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