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BRCA 1/2 Mutations

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Topic: BRCA 1/2 Mutations
Posted By: trip2
Subject: BRCA 1/2 Mutations
Date 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+



Replies:
Posted By: SusanE1104
Date 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


Posted By: nmunoz
Date 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


Posted By: Ghostie
Date 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


Posted By: Susie
Date 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


Posted By: trip2
Date 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+


Posted By: SusanE1104
Date 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


Posted By: trip2
Date Posted: Aug 11 2010 at 6:13pm
Hi Susan,
 
Bet that is it, thanks!


-------------
Stage 2 2003
Stage 1 2007
BRCA 1+


Posted By: outnumbered
Date 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


Posted By: Susie
Date 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


-------------
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


Posted By: amylynn
Date 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


Posted By: Susie
Date 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


Posted By: spuckie
Date Posted: Aug 17 2010 at 11:54pm
Hello
 
I am brca 1
w1815X
 
Thanks
sue


Posted By: SagePatientAdvocates
Date 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


Posted By: trip2
Date 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+


Posted By: northerngal
Date 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. 


Posted By: Susie
Date 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


Posted By: trip2
Date 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+


Posted By: Susie
Date 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


Posted By: zoomommy2
Date 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


Posted By: Laura41
Date 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


Posted By: Tamala
Date 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


Posted By: trip2
Date 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 - 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. 


-------------
Stage 2 2003
Stage 1 2007
BRCA 1+


Posted By: SagePatientAdvocates
Date 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


Posted By: briestarr
Date 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


Posted By: trip2
Date Posted: Aug 27 2010 at 7:42pm

Just flat awesome, congratulations....



-------------
Stage 2 2003
Stage 1 2007
BRCA 1+


Posted By: zoomommy2
Date 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


Posted By: SusanE1104
Date 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


Posted By: SagePatientAdvocates
Date 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


Posted By: Tamala
Date 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


Posted By: trip2
Date 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+


Posted By: trip2
Date 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 - 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+


Posted By: SagePatientAdvocates
Date 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..

http://coloncancer.about.com/od/cancerresearch/a/07012007.htm - http://coloncancer.about.com/od/cancerresearch/a/07012007.htm

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




-------------
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


Posted By: amylynn
Date 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


Posted By: steph
Date 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


Posted By: Lulu
Date 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


Posted By: briestarr
Date 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


Posted By: SagePatientAdvocates
Date Posted: Feb 27 2011 at 1:59am
Dear Lulu,

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

http://www.breakthroughconference.org.uk/programme.htm - http://www.breakthroughconference.org.uk/programme.htm

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


Posted By: Charlene
Date 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


Posted By: Barbi
Date 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


Posted By: zoomommy2
Date Posted: Feb 27 2011 at 1:27pm
Brenda,
Congratulations on doing so well!  May that continue forever!  Thank you for the prayers!
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


Posted By: Lulu
Date Posted: Feb 27 2011 at 1:28pm
Hi Steve that looks really interesting and would love to attend however £200 is a bit out of my budget as id have to pay for accomodation and transport as well... which is a really pity... if you know of anyway to go at a cheaper cost please let me know....

my work has cut down on funding too and we are only allowed to attend free conferences but i am going to  a TNBC study day tomorrow even in endinburgh... otherwise i would have tried to get them to fund it.

Barbi the BRCA3 research trial is commonly offered in the UK as a means of genetic testing, however the testing is really just to rule those with BRCA mutations out of the research so its more of a by product than a true genetic test... it only test for the main changes in the genes and doesnt look at missense and nonsense mutations such as mine.... i didnt have enough 'points' to fit the criteria for testing through the laboratory system until i got breast cancer the second time.

as i know work in this area it does make me worry than many of my patients given results that they are negative after brca 3 could mean they do actually have a gene but just that it wasnt identified.

i think one of the problems is people getting 'negative' tests... these arent actually negative... they just show that no gene has been found not that no gene exists.

a true negative result can only exist following predictive testing for a known gene within a family... eg my sister and mum are both negative as they do not carry the gene mutation i have... but in a family where no gene has been found it could mean that in a few years time one will be found.

dont mean to scare any body but i do feel there is a lot of misinformation and false reassurances given.

charlene that is very interesting research as gene carriers with breast cancer (any type) have a lifetime risk of around 40% or a contralateral BC where as non gene carriers its only 6%.

i wonder what they actually classify as recurrence eg is it all further episodes of cancer or secondaries or new primaries etc.

brie i see you had radiotherapy this frequently causes ongoing shrinkage of the affected area and can take as long as 2 years to settle but for most people its settled in a year so fingers crossed for you that there is no more shrinkage... my surgeon offered me to have fat inserted into my boob from other parts of the body.. lipofilling... iv not had it as got bc in other side and will be having bilateral mx next year but its maybe some thing you could discuss with your breast surgeon or plastic surgeon... some people also have implants instered after lumpectomy but really best to discuss it with a proffessional.

steph i havent come across anybody else with my mutation apart from my dad and there isnt any mention of it online either so would love to know somebody else with my mutation.

lulu xx


-------------
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


Posted By: Barbi
Date Posted: Feb 27 2011 at 2:52pm
Lulu, Thanks for the info on your BRCA testing. That makes sense.  I knew that by not getting the BART test, I am basically excluding myself from the piece of knowledge that it could mean a positive vs the negative I am now given.
 
I would be interested in information on what you did to become a genetic counselor. The counselor at my university based center gave me some info and encouragement to look into this field as it is such demand and should only grow. I am already an RN.  If you have any info you could share, could you pm me? Thanks, Barbi


Posted By: SagePatientAdvocates
Date Posted: Feb 27 2011 at 3:24pm
Hi Lulu,

I paid 150 pounds because I registered several months ago...now, you are correct, I see the fee is 200 pounds...

however if you register for the programme just on the 10th the fee is 150 pounds..I think BRCA-wise the 10th is the most interesting day. Two of the key scientists behind the parp inhibitor discovery, Alan Ashworth and Andrew Tutt will be involved. I fully understand it is a long expensive trip and I will try to take good notes and post...If somehow you can make it would be delighted to see you.. 

THURSDAY 10 MARCH

Registration desk open times: 08.30 – 18.00
Exhibition open times: 10.00 – 17.00
Exhibition break-down: 17.15 – 18.30
Session 3: Genome Analysis
Session sponsored by Illumina
Illumina
Chair: Alan Ashworth, Institute of Cancer Research, London, UK (Chair of Programme Committee)
09.00
Genotypic and phenotypic characterisation of estrogen receptor negative and HER2 negative breast cancer through massive parallel sequencing of breast cancer xenografts
Matthew Ellis, Washington University Medical School, St. Louis, USA
09.30
The ICGC perspective
Mike Stratton, Wellcome Trust Sanger Institute, Cambridge, UK
10.00
Aetiology of triple negative breast cancer: results from the Breast Cancer Association Consortium
Montserrat Garcia-Closas, Institute of Cancer Research, London, UK
10.20
Hedgehog overexpression predicts poor outcome and is a potential therapeutic target in basal-like breast cancer
Rob Sutherland, Garvan Institute of Medical Research, Darlinghurst, Australia
10.40 – 11.10
Refreshments
Session 4: Cell of origin and cancer stem cells
Session sponsored by Susan G Komen for the Cure®
Susan G Komen for the Cure
Chair: William Foulkes, McGill University, Montreal, Canada
11.10
Targeting breast cancer stem cells
Gabriela Dontu, Breakthrough Breast Cancer Research Unit, King's College London, UK
11.40
Targeting homologous recombination deficiency in genetically engineered mouse models of BRCA-associated breast cancer
Jos Jonkers, Netherlands Cancer Institute, Amsterdam, The Netherlands
12.10
Discussion
12.30 – 13.45
Lunch
Session 5: BRCA1 and sporadic triple negative cancers
Session sponsored by Pfizer Oncology
Pfizer
Chair: Andrew Tutt, Breakthrough Breast Cancer Research Unit, King's College London, UK
13.45
New therapeutic approaches for cancer based on targeting genetic dependencies
Alan Ashworth, Institute of Cancer Research, London, UK
14.15
The effect of breast tumour subtype on relationship between tumour size, nodal status and survival
William Foulkes, McGill University, Montreal, Canada
14.45
Title of talk to be confirmed
Steven Narrod, Women's College Research Institute, Toronto, Canada
To be presented by Rebecca Dent, Sunnybrook, Toronto, Canada / National Cancer Centre, Singapore
15.15
Discussion
15.45 – 16.45
Refreshments and poster session
16.45 – 18.15
Case studies and debate: How to manage triple negative breast cancer
Session sponsored by Roche Products Ltd




-------------
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


Posted By: Lulu
Date Posted: Feb 27 2011 at 3:41pm
i have emailed my boss to see if on the off chance i can get funded for it... its a long shot but nothing ventured nothing gained.

will let you know what she says tomorrow.

Barbi im not actually a genetic counsellor per se but a breast care nurse in genetic screening so i see ladies who have a family history who are coming for their annual screening and will be doing pre-op counselling for women opting for risk reducing surgery.. i dont do this yet as a set clinic but obviously these type of discussions and referral for genetic testing etc are part of my role... ill pm you the information.


-------------
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


Posted By: SagePatientAdvocates
Date Posted: Feb 27 2011 at 4:01pm
Dear Barbi,

if you are in the U.S.

http://www.nsgc.org/

I think it is a wonderful profession.

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


Posted By: Barbi
Date Posted: Feb 27 2011 at 9:02pm
Thanks Steve and Lulu for the info. I have seen lots of info but can never have too much!


Posted By: Ethan07
Date Posted: Mar 02 2011 at 9:18am

I am BRAC-1 +  deletion 5083del 19



Posted By: sstefano
Date Posted: Mar 03 2011 at 3:37pm
I am BRCA1  (5385insC) .


Posted By: ashbug369
Date Posted: Jul 16 2011 at 11:12am
Susie, I too am BRCA2+ E1415X.  I am a four year survivor, diagnosed at 35.  I have searched the internet about my particular mutation and your posts were the only thing I found.  Would love to know if you have more information.  Thanks ~Ashley


Posted By: Susie
Date Posted: Jul 16 2011 at 3:37pm
Hi Ashley, I just sent you a private msg. I am trying to find the link to the Malone Study..

-------------
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


Posted By: Susie
Date Posted: Jul 16 2011 at 3:41pm
Hi Ashley, I just sent you a private msg. Trying to find the link to the Malone study for you to read.. S

-------------
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


Posted By: Susie
Date Posted: Jul 16 2011 at 3:55pm
http://jco.ascopubs.org/cgi/content/abstract/28/14/2404 - http://jco.ascopubs.org/cgi/content/abstract/28/14/2404

Population-Based Study of the Risk of Second Primary Contralateral Breast Cancer Associated With Carrying a Mutation in BRCA1 or BRCA2
Kathleen E. MaloneColin B. BeggRobert W. HaileAke BorgPatrick ConcannonLina TellhedShanyan XueSharon Teraoka,Leslie BernsteinMarinela CapanuAnne S. ReinerElyn R. RiedelDuncan C. ThomasLene MellemkjærCharles F. Lynch,John D. Boice, JrHoda Anton-CulverJonine L. Bernstein

From the Division of Public Health Sciences, Fred Hutchinson Cancer Research Center, Seattle, WA; Department of Epidemiology and Biostatistics, Memorial Sloan-Kettering Cancer Center, New York, NY; Department of Preventive Medicine, University of Southern California, Los Angeles; Division of Cancer Etiology, Department of Population Sciences, Beckman Research Institute, City of Hope, Duarte; Department of Epidemiology, University of California at Irvine, Irvine, CA; Department of Oncology, Lund University, Lund, Sweden; Center for Public Health Genomics and Department of Biochemistry and Molecular Genetics, University of Virginia, Charlottesville, VA; Institute of Cancer Epidemiology, Danish Cancer Society, Copenhagen, Denmark; Department of Epidemiology, University of Iowa, Iowa City, IA; International Epidemiology Institute, Rockville, MD; and Department of Medicine, Vanderbilt University, Nashville, TN.

Corresponding author: Kathleen E. Malone, PhD, Fred Hutchinson Cancer Research Center, PO Box 19024, Seattle WA 98006; e-mail: mailto:kmalone@fhcrc.org - kmalone@fhcrc.org .

Purpose Women with breast cancer diagnosed early in life comprise a substantial portion of those tested for BRCA1/BRCA2 mutations; however, little information is available on the subsequent risks of contralateral breast cancer in mutation carriers. This study assessed the risk of subsequent contralateral breast cancer associated with carrying a BRCA1 or BRCA2 mutation.

Patients and Methods In this nested case-control study, patients with contralateral breast cancer diagnosed 1 year or more after a first primarybreast cancer (n = 705) and controls with unilateral breast cancer (n = 1,398) were ascertained from an underlying population-based cohort of 52,536 women diagnosed with a first invasive breast cancer before age 55 years. Interviews and medical record reviews were used to collect risk factor and treatment histories. All women were tested for BRCA1/BRCA2 mutations. Relative (rate ratios) and absolute (5- and 10-year cumulative) risks of developing contralateral breast cancer following a first invasive breast cancer were computed.

Results Compared with noncarriers, BRCA1 and BRCA2 mutation carriers had 4.5-fold (95% CI, 2.8- to 7.1-fold) and 3.4-fold (95% CI, 2.0- to 5.8-fold) increased risks of contralateral breast cancer, respectively. The relative risk of contralateral breast cancer for BRCA1 mutation carriers increased as age of first diagnosis decreased. Age-specific cumulative risks are provided for clinical guidance.

Conclusion The risks of subsequent contralateral breast cancer are substantial for women who carry a BRCA1/BRCA2 mutation. These findings have important clinical relevance regarding the assessment of BRCA1/BRCA2 status in patients with breast cancer and the counseling and clinical management of patients found to carry a mutation.

Written on behalf of the WECARE Study Collaborative Group.

Supported by Grants No. R01CA097397 and NCI U01CA083178 from the National Cancer Institute.

Authors' disclosures of potential conflicts of interest and author contributions are found at the end of this article.


.........

This is the  study I was refering to.. Susie


-------------
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


Posted By: SagePatientAdvocates
Date Posted: Jul 16 2011 at 6:09pm
Dear Ashley,

There is a wonderful BRCA expert at Myriad Genetics in Salt Lake City.

His name is Eric Rosenthal and I consider him a friend, even though some of Myriad’s policies truly make me nauseous. Eric is a good man and a dedicated professional.

Eric Rosenthal, PhD, ScM

Myriad Genetic Laboratories, Inc

320 Wakara Way

Salt Lake City, UT  84108

tel:%28801%29%20584-3054 - (801) 584-3054

tel:%28800%29%20469-7423%2C%20ext%C2%A03054 - (800) 469-7423, ext 3054  (Toll Free)

tel:%28801%29%C2%A0584-3615 - (801) 584-3615  (FAX)



He was my genetics counselor when I was diagnosed almost 7 years ago.


I think it would be an excellent resource for information regarding your mutation.


If he asks how you got his information tell him an old man named Steve from San Diego gave it to you.


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


Posted By: Susie
Date Posted: Jul 16 2011 at 6:23pm
Ashley, Any new information you receive, I would love to have also!! Susie


-------------
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


Posted By: NancyJane
Date Posted: Sep 26 2011 at 11:33pm
I am BRCA1+ 187delAG

-------------
41yr dx 7/25/08
Lumpectomy and ax node disection (38 nodes, all clean!) 8/12/08
T2 grd 3, N0, TN IDC
BRCA1+
ACx4,Tx12 10/08-3/09
prophylactic hyst, ooph,mast & one-step recon 3/30/09


Posted By: Susie
Date Posted: Sep 27 2011 at 7:14am
Ashley, Did you learn any new info on our gene mutation??

-------------
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


Posted By: ChrisB
Date Posted: Sep 30 2011 at 11:23am
Hi! I am BRCA2+ , 5578delAA

-------------
DX 8/11 @45; IDC, TNBC, BRCA2; Stage 1, Grade 3, 1.5 cm.


Posted By: SagePatientAdvocates
Date Posted: Sep 30 2011 at 1:07pm
Dear Nancy Jane,

we are cousins...Smile

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


Posted By: mindy555
Date Posted: May 19 2012 at 12:04am
Rejuvenating an old post as as I watch the Thunder/Lakers playoffs. :) 

I'm also  BRCA1-187delAG.  It's one of the of the top 3 mutations among the Ashkenazi population- and in my case is clearly from my maternal grandfather's side whose family migrated from eastern Europe to Manchester England in his youth.

Appears there are several cousins among us here!

For those who haven't already visited the FORCE site (Facing Our Risk of Cancer Empowered)  I highly recommend.

                            http://www.facingourrisk.org/ - http://www.facingourrisk.org/


-------------
Dx July 2011 56 yo
Stage I IDC,TN,Grade 3
Grew to Stage IIa- No ev of node involve- BRCA1+ chondroid metaplasia
Daughter also BRCA1+
Mass grew on Taxol
FEC 6x better
BMX 3/19/12 pCR NED
BSO 6/2012


Posted By: kim13
Date Posted: May 21 2012 at 11:38pm
I'm BRCA1 positive.  I see that everyone has the mutations street address and mine looks really different (but i am notorious for skim reading).
 
BRCA1 deleterious C61G (300T>G) is what the report says


-------------
3.7.12 Dx @ 37, IDC, Stage 2 grade3, ER-, PR-, Her2 -, 2.6cm x 2.4cm x2.4cm , 12 Taxols & 4 FACs, BRCA1 +, Bilateral Mastectomy 9.27.12, Complete Hysterectomy 10.22.12


Posted By: Katdoll
Date Posted: May 22 2012 at 3:42am
I'm BRCA1+, 187delAG.  If you have the same variation as someone, you are likely cousins of some type, if you go back far enough.  I think that's pretty cool.

-------------
Tested positive for BRCA1 mutation (187delAG) in 4/09 @ age 44; BSO 9/09; diagnosed w/TNBC in 10/09; 1 cm Stage 1 TNBC IDC, grade 3 + 1.5 cm DCIS; BMX 11/09, nodes clear; chemo (AC/T).


Posted By: SagePatientAdvocates
Date Posted: May 22 2012 at 6:18am
Dear Kim,

Welcome to our TNBC Foundation family.

Your mutation is a mutation that is 'classically' Polish and is normally tested for in Poland today. Obviously I have no idea if you are or Polish ancestry and I am not trying to pry. I have the BRCA1(187 del AG) which is a classic Ashkenazi Jewish mutation which is also a BRCA1 mutation that is a prevalent BRCA1 mutation in the Polish population.

Every woman in Poland who has breast cancer is tested, free,by the government for the four BRCA1 mutations.

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3132391/ - http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3132391/

A few years ago at the San Antonio Breast Cancer symposium I attended a very interesting presentation by a Polish researcher Dr. J. Gronwald. 

http://www.ncbi.nlm.nih.gov/pubmed/15146557 - http://www.ncbi.nlm.nih.gov/pubmed/15146557

http://www.ncbi.nlm.nih.gov/pubmed/15146557# - Int J Cancer.  2004 Jul 10;110(5):683-6.

A high proportion of founder BRCA1 mutations in Polish breast cancer families.

http://www.ncbi.nlm.nih.gov/pubmed?term=G%C3%B3rski%20B%5BAuthor%5D&cauthor=true&cauthor_uid=15146557 - Górski B ,  http://www.ncbi.nlm.nih.gov/pubmed?term=Jakubowska%20A%5BAuthor%5D&cauthor=true&cauthor_uid=15146557 - Jakubowska A ,  http://www.ncbi.nlm.nih.gov/pubmed?term=Huzarski%20T%5BAuthor%5D&cauthor=true&cauthor_uid=15146557 - Huzarski T ,  http://www.ncbi.nlm.nih.gov/pubmed?term=Byrski%20T%5BAuthor%5D&cauthor=true&cauthor_uid=15146557 - Byrski T ,  http://www.ncbi.nlm.nih.gov/pubmed?term=Gronwald%20J%5BAuthor%5D&cauthor=true&cauthor_uid=15146557 - Gronwald J ,  http://www.ncbi.nlm.nih.gov/pubmed?term=Grzybowska%20E%5BAuthor%5D&cauthor=true&cauthor_uid=15146557 - Grzybowska E ,  http://www.ncbi.nlm.nih.gov/pubmed?term=Mackiewicz%20A%5BAuthor%5D&cauthor=true&cauthor_uid=15146557 - Mackiewicz A ,  http://www.ncbi.nlm.nih.gov/pubmed?term=Stawicka%20M%5BAuthor%5D&cauthor=true&cauthor_uid=15146557 - Stawicka M ,  http://www.ncbi.nlm.nih.gov/pubmed?term=Bebenek%20M%5BAuthor%5D&cauthor=true&cauthor_uid=15146557 - Bebenek M ,  http://www.ncbi.nlm.nih.gov/pubmed?term=Sorokin%20D%5BAuthor%5D&cauthor=true&cauthor_uid=15146557 - Sorokin D ,  http://www.ncbi.nlm.nih.gov/pubmed?term=Fiszer-Maliszewska%20%C5%81%5BAuthor%5D&cauthor=true&cauthor_uid=15146557 - Fiszer-Maliszewska Ł ,  http://www.ncbi.nlm.nih.gov/pubmed?term=Haus%20O%5BAuthor%5D&cauthor=true&cauthor_uid=15146557 - Haus O , http://www.ncbi.nlm.nih.gov/pubmed?term=Janiszewska%20H%5BAuthor%5D&cauthor=true&cauthor_uid=15146557 - Janiszewska H ,  http://www.ncbi.nlm.nih.gov/pubmed?term=Niepsuj%20S%5BAuthor%5D&cauthor=true&cauthor_uid=15146557 - Niepsuj S ,  http://www.ncbi.nlm.nih.gov/pubmed?term=G%C3%B3%C5%BAd%C5%BA%20S%5BAuthor%5D&cauthor=true&cauthor_uid=15146557 - Góźdź S ,  http://www.ncbi.nlm.nih.gov/pubmed?term=Zaremba%20L%5BAuthor%5D&cauthor=true&cauthor_uid=15146557 - Zaremba L ,  http://www.ncbi.nlm.nih.gov/pubmed?term=Posmyk%20M%5BAuthor%5D&cauthor=true&cauthor_uid=15146557 - Posmyk M ,  http://www.ncbi.nlm.nih.gov/pubmed?term=P%C5%82uza%C5%84ska%20M%5BAuthor%5D&cauthor=true&cauthor_uid=15146557 - Płuzańska M ,  http://www.ncbi.nlm.nih.gov/pubmed?term=Kilar%20E%5BAuthor%5D&cauthor=true&cauthor_uid=15146557 - Kilar E ,  http://www.ncbi.nlm.nih.gov/pubmed?term=Czudowska%20D%5BAuthor%5D&cauthor=true&cauthor_uid=15146557 - Czudowska D ,  http://www.ncbi.nlm.nih.gov/pubmed?term=Wa%C5%9Bko%20B%5BAuthor%5D&cauthor=true&cauthor_uid=15146557 - Waśko B ,  http://www.ncbi.nlm.nih.gov/pubmed?term=Miturski%20R%5BAuthor%5D&cauthor=true&cauthor_uid=15146557 - Miturski R ,  http://www.ncbi.nlm.nih.gov/pubmed?term=Kowalczyk%20JR%5BAuthor%5D&cauthor=true&cauthor_uid=15146557 - Kowalczyk JR ,  http://www.ncbi.nlm.nih.gov/pubmed?term=Urba%C5%84ski%20K%5BAuthor%5D&cauthor=true&cauthor_uid=15146557 - Urbański K ,  http://www.ncbi.nlm.nih.gov/pubmed?term=Szwiec%20M%5BAuthor%5D&cauthor=true&cauthor_uid=15146557 - Szwiec M ,  http://www.ncbi.nlm.nih.gov/pubmed?term=Koc%20J%5BAuthor%5D&cauthor=true&cauthor_uid=15146557 - Koc J ,  http://www.ncbi.nlm.nih.gov/pubmed?term=Debniak%20B%5BAuthor%5D&cauthor=true&cauthor_uid=15146557 - Debniak B ,  http://www.ncbi.nlm.nih.gov/pubmed?term=Rozmiarek%20A%5BAuthor%5D&cauthor=true&cauthor_uid=15146557 - Rozmiarek A ,  http://www.ncbi.nlm.nih.gov/pubmed?term=Debniak%20T%5BAuthor%5D&cauthor=true&cauthor_uid=15146557 - Debniak T ,  http://www.ncbi.nlm.nih.gov/pubmed?term=Cybulski%20C%5BAuthor%5D&cauthor=true&cauthor_uid=15146557 - Cybulski C ,  http://www.ncbi.nlm.nih.gov/pubmed?term=Kowalska%20E%5BAuthor%5D&cauthor=true&cauthor_uid=15146557 - Kowalska E ,  http://www.ncbi.nlm.nih.gov/pubmed?term=To%C5%82oczko-Grabarek%20A%5BAuthor%5D&cauthor=true&cauthor_uid=15146557 - Tołoczko-Grabarek A ,  http://www.ncbi.nlm.nih.gov/pubmed?term=Zajaczek%20S%5BAuthor%5D&cauthor=true&cauthor_uid=15146557 - Zajaczek S ,  http://www.ncbi.nlm.nih.gov/pubmed?term=Menkiszak%20J%5BAuthor%5D&cauthor=true&cauthor_uid=15146557 - Menkiszak J ,  http://www.ncbi.nlm.nih.gov/pubmed?term=Medrek%20K%5BAuthor%5D&cauthor=true&cauthor_uid=15146557 - Medrek K ,  http://www.ncbi.nlm.nih.gov/pubmed?term=Masoj%C4%87%20B%5BAuthor%5D&cauthor=true&cauthor_uid=15146557 - Masojć B ,  http://www.ncbi.nlm.nih.gov/pubmed?term=Mierzejewski%20M%5BAuthor%5D&cauthor=true&cauthor_uid=15146557 - Mierzejewski M ,  http://www.ncbi.nlm.nih.gov/pubmed?term=Narod%20SA%5BAuthor%5D&cauthor=true&cauthor_uid=15146557 - Narod SA , http://www.ncbi.nlm.nih.gov/pubmed?term=Lubi%C5%84ski%20J%5BAuthor%5D&cauthor=true&cauthor_uid=15146557 - Lubiński J .

Source

Department of Genetics and Pathology, International Hereditary Cancer Center, Pomeranian Medical University, Szczecin, Poland. gorskib@sci.pam.szczecin.pl

Abstract

Three mutations in BRCA1 (5382insC, C61G and 4153delA) are common in Poland and account for the majority of mutations identified to date in Polish breast and breast-ovarian cancer families. It is not known, however, to what extent these 3 founder mutations account for all of the BRCA mutations distributed throughout the country. This question has important implications for health policy and the design of epidemiologic studies. To establish the relative contributions of founder and nonfounder BRCA mutations, we established the entire spectrum of BRCA1 and BRCA2 mutations in a large set of breast-ovarian cancer families with origins in all regions of Poland. We sequenced the entire coding regions of the BRCA1 and BRCA2 genes in 100 Polish families with 3 or more cases of breast cancer and in 100 families with cases of both breast and ovarian cancer. A mutation in BRCA1 or BRCA2 was detected in 66% of breast cancer families and in 63% of breast-ovarian cancer families. Of 129 mutations, 122 (94.6%) were in BRCA1 and 7 (5.4%) were in BRCA2. Of the 122 families with BRCA1 mutations, 119 (97.5%) had a recurrent mutation (i.e., one that was seen in at least 2 families). In particular, 111 families (91.0%) carried one of the 3 common founder mutations. The mutation spectrum was not different between families with and without ovarian cancer. These findings suggest that a rapid and inexpensive assay directed at identifying the 3 common founder mutations will have a sensitivity of 86% compared to a much more costly and labor-intensive full-sequence analysis of both genes. This rapid test will facilitate large-scale national epidemiologic and clinical studies of hereditary breast cancer, potentially including studies of chemoprevention.

Copyright 2004 Wiley-Liss, Inc.

PMID:
 
15146557
 
[PubMed - indexed for MEDLINE]

................................
This 2004 Polish study showed than an incredible 66% of breast cancer had a BRCA1 or 2 mutation 
and the vast majority (94.6%) were a BRCA1 mutation.

Since I cut and pasted the abstract above I am having trouble with the margins so I will continue
in my next post.

warmly,

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


Posted By: SagePatientAdvocates
Date Posted: May 22 2012 at 7:10am
sorry, continued from above.

I asked Dr. Gronwald (super nice guy by the way), naively, "why is it that there are Ashkenazi Founders mutations in so many Polish women when there are so few Jews in Poland?"

He told me he had actually done his thesis on this topic and it seems at the time of the Spanish Inquisition there was also an edict in Poland "Jews, you can convert to Catholicism, and keep your businesses/property or you have to leave the country." At the time there were millions of Jews in Poland. Gronwald explained that many Jews converted and I interrupted him by saying "but their genes did not."

So, almost the entire population of Poland considers themselves Polish Catholics. I think that is approximately 36 million+. Interestingly, the Polish Catholics seems to have their own views on many important Catholic principles. 

http://ncronline.org/blogs/all-things-catholic/despite-reputation-staunch-catholics-poles-show-independence - http://ncronline.org/blogs/all-things-catholic/despite-reputation-staunch-catholics-poles-show-independence

So, Kim, you may have some Polish ancestry and of course you may not.

What is important is that your BRCA1 mutation carries a high risk for breast cancer and it is often TNBC. No surprise there. Unfortunately, like my daughter and many others here you carry a BRCA1+ mutation and have TNBC.

What is equally important, to me, is that the mutation also carries an approximately 45% risk for ovarian cancer. And that is a separate risk to breast cancer. With this miserable mutation it is not the case that if you have breast cancer then you won't get ovarian cancer you are still at a 45% lifetime risk. And vice versa if you get ovarian cancer you are still at a risk for breast cancer. 

Ovarian cancer, unlike breast cancer, does not have reliable diagnostic tools to find the disease at an early Stage and therefore approximately all ovarian cancer in this country is found as Stage III/IV which is a disaster.

So, if you have the BRCA mutation you should speak to a Certified Genetic Counselor(CGC) and understand your risks for getting ovarian cancer. The chances for getting ovarian cancer seem to be higher with BRCA1 women than BRCA2 women...45% vs 25% roughly..with certain exceptions. A good CGC can explain all to you. Also, if you are not BRCA+ but have a family history of ovarian cancer it may be good for you to get a CGC's perspective.

Also, if anyone decides to have prophylactic gynecologic surgery (and I am not suggesting anyone does. I am not a doctor) please make sure you speak to a gynecologic oncologist about the surgery. The gyn/onc has a lot more training (3-4 years) than an ob/gyn in recognizing ovarian cancer and also will ensure that the special BRCA protocol is used when doing the surgery (e.g careful sectioning of the fallopian tubes). A study showed that the chances of fallopian tube cancer were 120x greater in a BRCA+ woman than in the general population.


Ovarian cancer is one of the great tragedies of this mutation.

I think part of the reason for the 1 out of 40 prevalence for Ashkenazi Jews  having the BRCA mutation is the lousy gene pool diversity that AJ people have. Our community was so insular that many, many AJ people only married other AJ people, including cousins marrying cousins. The result is a lot of mutations that carry serious disease implications like Tay-Sachs and Gaucher's disease, in addition to BRCA and other genetic mutations. The BRCA1 mutation we share is, in my view, a disaster. I am glad we know about it, because I am a great believer in 'knowledge is power' but I wish it and our cousin's club did not exist. But it is what it is. The good thing about our cousin's club, Katdoll, is that I have met about 100 men/women who share our mutation over the last 7 years  and there are many, many lovely people who are cousins. I know from your posts that you are one of them so yes, I am happy we are cousins..just not happy about the BRCA1 mutation and its awful consequences.

Regarding genetic diversity...on my dad's side (which is the non-BRCA side) my great grandfather who was a twin went to his dad's brother with his twin brother to ask for the hands in marriage of the uncle's two daughters. Supposedly their uncle gave his approval, laughingly saying, "well you are from a good family, ours, so why not?" But, from a genetic risk perspective, they should not have wed their first cousins and my family on my dad's side suffers from various types of lymphoma and leukemia. I am hoping to join a study that is studying various genetic mutations that might predispose me to yet another cancer. It is not bad enough that I have the BRCA mutation which puts me at higher risks for prostate, breast cancer and pancreatic cancer as well as melanoma. Having written that, in general the consequences for serious illness in a BRCA+ guy are much less than a BRCA woman. But, I may have some other genetic disaster yet to be determined re: lymphoma/leukemia.

On that high note I have the option of going back to bed and pulling the covers over my head all day or try to prepare to see my adored grandson at noon today. I opt for trying to find the beauty in each day..everyday I see him is truly beautiful...And I am determined to try to do some productive work instead of wallowing in a BRCA funk. 

As usual, I write too much..sorry about that.

warmly,

Steve

p.s. Mindy, thanks for bumping this thread up. I think it is very important that you did. Sending you my prayers and ++++++ vibrations.


-------------
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


Posted By: mindy555
Date Posted: May 22 2012 at 11:47am
All great info, Steve.

thanks!!!


-------------
Dx July 2011 56 yo
Stage I IDC,TN,Grade 3
Grew to Stage IIa- No ev of node involve- BRCA1+ chondroid metaplasia
Daughter also BRCA1+
Mass grew on Taxol
FEC 6x better
BMX 3/19/12 pCR NED
BSO 6/2012


Posted By: mindy555
Date Posted: May 22 2012 at 12:28pm
BTW, I edited my post a page back to link the non-profit organization FORCE (Facing Our Risk of Cancer- "fighting hereditary breast and ovarian cancer")  for BRCA positives.

Many of you may have already visited this site.  For those who haven't:

http://www.facingourrisk.org/ - http://www.facingourrisk.org/

I disagree Steve.  Your posts are NEVER too long.  I've learned so much from you.  I know others would resoundingly say the same.  Delight in your beautiful grandchildren today.


-------------
Dx July 2011 56 yo
Stage I IDC,TN,Grade 3
Grew to Stage IIa- No ev of node involve- BRCA1+ chondroid metaplasia
Daughter also BRCA1+
Mass grew on Taxol
FEC 6x better
BMX 3/19/12 pCR NED
BSO 6/2012


Posted By: dawncoskren
Date Posted: Aug 06 2013 at 11:59am
I'm BRCA 1 positive

-------------
DX 6/14/13 TNBC-IDC
7/15 BRCA 1 Positive
7/16 double mastectomy
7/23 Post surgery Pathology- Stage1,tumor 2cm nodes clr.
8/16/13 4 A/c and 4 Taxol
1/6/14 implants
3/13/14 ovaries and tubes removed


Posted By: dawncoskren
Date Posted: Aug 06 2013 at 12:04pm
Hi Steve, I'm interested in your story. I'm BRCA 1 positive. I didn't know my history so I had no idea until I found out I have TNBC that I might have this.
 
I'm concerned about my kids. I have a daughter and a son. Teenagers right now. They are telling me I should get them tested at 25. Does this sound right?
 
Did you know you had this when your daughter found out she had cancer or did you find out when she was diagnosed?
 
 


-------------
DX 6/14/13 TNBC-IDC
7/15 BRCA 1 Positive
7/16 double mastectomy
7/23 Post surgery Pathology- Stage1,tumor 2cm nodes clr.
8/16/13 4 A/c and 4 Taxol
1/6/14 implants
3/13/14 ovaries and tubes removed


Posted By: dawncoskren
Date Posted: Aug 06 2013 at 12:11pm
What is all the numbers that people are listing behind BRCA 1 or 2. I didn't get a number. I was just told I was positive. Is this number important and should I ask for ?
 
thank you all


-------------
DX 6/14/13 TNBC-IDC
7/15 BRCA 1 Positive
7/16 double mastectomy
7/23 Post surgery Pathology- Stage1,tumor 2cm nodes clr.
8/16/13 4 A/c and 4 Taxol
1/6/14 implants
3/13/14 ovaries and tubes removed


Posted By: SagePatientAdvocates
Date Posted: Aug 06 2013 at 2:08pm
Dear Dawn,

we found out after my daughter's diagnosis of TNBC is 2004. I am still angered by what happened..

Here is some of the story..

http://ww5.komen.org/breastcancer/SteveK.html" rel="nofollow - http://ww5.komen.org/breastcancer/SteveK.html

I can't write more now as I am at MD Anderson with a patient. I am sending you my contact info and if you wold like to talk I should be free tonight.

warmly,

Steve

p.s. everyone should receive specific information on your allele..those are the numbers you are referring to and they should be on your Myriad report.


-------------
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


Posted By: dawncoskren
Date Posted: Aug 06 2013 at 2:27pm
Thank you steve. I appreciate your story. I added you to my buddy list so we hopefully can chat more.

Wishing your entire family well.

-------------
DX 6/14/13 TNBC-IDC
7/15 BRCA 1 Positive
7/16 double mastectomy
7/23 Post surgery Pathology- Stage1,tumor 2cm nodes clr.
8/16/13 4 A/c and 4 Taxol
1/6/14 implants
3/13/14 ovaries and tubes removed


Posted By: boggsgrn
Date Posted: Oct 26 2013 at 10:53am
Hi i am I am BRCA 2 positive. Thanks


Posted By: SagePatientAdvocates
Date Posted: Oct 26 2013 at 11:25am
Hi Boggsgrn,

you are most welcome to our TNBC Foundation family and wish you did not have need to be here.

warmly,

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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