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trip2
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Topic: BRCA 1/2 Mutations 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
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Stage 2 2003
Stage 1 2007
BRCA 1+
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SusanE1104
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Posted: Aug 08 2010 at 7:28pm |
I am BRCA 1 positive.
Susan
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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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nmunoz
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Location: Miami, FL
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Posted: Aug 09 2010 at 12:28am |
I have BRCA1 mutation 5210delTG.
Best,
Natalia
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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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Ghostie
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Posted: Aug 09 2010 at 2:12pm |
I am BRCA 2 positive.
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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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Susie
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Posted: Aug 09 2010 at 2:20pm |
I am BRCA2 positive.
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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
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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...
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Stage 2 2003
Stage 1 2007
BRCA 1+
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SusanE1104
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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
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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
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Posted: Aug 11 2010 at 6:13pm |
Hi Susan,
Bet that is it, thanks!
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Stage 2 2003
Stage 1 2007
BRCA 1+
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outnumbered
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Posted: Aug 11 2010 at 7:15pm |
I am BRCA1 187delAG
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~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
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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
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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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amylynn
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Posted: Aug 16 2010 at 3:21pm |
I am BRCA 1 (5385insC)
Amy
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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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Susie
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Posted: Aug 17 2010 at 11:00pm |
Interesting, most are BRCA1+ instead of BRCA2..
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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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spuckie
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Posted: Aug 17 2010 at 11:54pm |
Hello
I am brca 1
w1815X
Thanks
sue
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SagePatientAdvocates
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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
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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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trip2
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Posted: Aug 21 2010 at 7:05pm |
I'm so glad you all are posting. Yes Susie, you have it right.
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Stage 2 2003
Stage 1 2007
BRCA 1+
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northerngal
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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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Susie
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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?
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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
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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.
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Stage 2 2003
Stage 1 2007
BRCA 1+
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Susie
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Posted: Aug 23 2010 at 10:54pm |
It's a "catch 22"!!
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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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zoomommy2
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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
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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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