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Topic: Listing our BRCA mutations - maybe we can find matches

Forum: Genetic Testing —

ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, NBN, NF1, PALB2, PTEN, RAD51C, RAD51D, STK11, TP53, and mismatch repair genes (MLH1, MSH2, MSH6, PMS2, EPCAM)

Posted on: Apr 19, 2010 11:29PM

AnacortesGirl wrote:

My idea is that we can use this topic to post our genetic mutation on the off chance that we can find someone else with the same mutation.  I realize that this is a long shot because there are so many variations, but what the heck?  I tried searching FORCE for mine with no luck.

Here's my family's:

BRCA2 - 2024del5

Christy - BRCA2+; mets to bones and liver, Taxol/Sutent -> AC, BMX - no recon, Rads, Carboplatin, BSO, Veliparib trial (8/30/13-3/13/14) Dx 7/21/2009, ILC, 5cm, Stage IIIC, Grade 3, 14/17 nodes, ER+/PR+, HER2- Hormonal Therapy 9/1/2010 Aromasin (exemestane) Hormonal Therapy 2/1/2011 Dx 9/9/2012, ILC, Stage IV, Grade 3, ER+/PR-, HER2- Hormonal Therapy 9/9/2012 Femara (letrozole) Chemotherapy 3/29/2013 Xeloda (capecitabine) Hormonal Therapy 8/16/2013 Faslodex (fulvestrant) Chemotherapy 3/20/2014 Carboplatin (Paraplatin)
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Apr 20, 2010 01:35AM MRDRN wrote:

I am BRCA 1 along with my sister and cousin ...specifically which ONE, I don't know. hummm

 Glad to connect with others.  I thank God I decided to get tested because it enabled better screening thus finding my BS very early so I hope for a full recoverery.  Thanks for the topic.:)

TAH March, 2010, SNB,BiMx with Immediate DIEP recon June 8,2010 BRCA 1 +, Stage 1 BC
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Apr 20, 2010 09:07PM AnacortesGirl wrote:

Did you get a sheet from Myriad Labs?  It should list your specific mutation.

Christy - BRCA2+; mets to bones and liver, Taxol/Sutent -> AC, BMX - no recon, Rads, Carboplatin, BSO, Veliparib trial (8/30/13-3/13/14) Dx 7/21/2009, ILC, 5cm, Stage IIIC, Grade 3, 14/17 nodes, ER+/PR+, HER2- Hormonal Therapy 9/1/2010 Aromasin (exemestane) Hormonal Therapy 2/1/2011 Dx 9/9/2012, ILC, Stage IV, Grade 3, ER+/PR-, HER2- Hormonal Therapy 9/9/2012 Femara (letrozole) Chemotherapy 3/29/2013 Xeloda (capecitabine) Hormonal Therapy 8/16/2013 Faslodex (fulvestrant) Chemotherapy 3/20/2014 Carboplatin (Paraplatin)
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Apr 25, 2010 04:04AM - edited Apr 29, 2010 10:14PM by MRDRN

The letter from the genetic couselor was that it was BRCA 1, specifically c61G.   I was strongly advised to get a Bi Lat Mast in hopes of cure...the nodule is so small at 7mm, and chances are it did not get to the nodes.


TAH March, 2010, SNB,BiMx with Immediate DIEP recon June 8,2010 BRCA 1 +, Stage 1 BC
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Apr 30, 2010 12:42PM katsie wrote:

I got my test results yesterday.  It was done by Myriad Labs, and says that I am positive for deleterious mutation. 

The results of the analysis are consistent with the germline BRACA1 mutation E1250X. 

I don't know is this is what you are looking for, or not.  If you need more, I will post it, just let me know. 

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Apr 30, 2010 09:29PM Jane_M wrote:

I'll have to pull out my report. I had a mutation, but they don't know the significance of it.  It's not the normal mutation they see.  They said if someone else in my family got bc and they got tested and they had the same mutation, then they'd know it was significant.  I don't like those odds.  My daughter's gyn (who is the same doc that delivered her) has gotten approval from the insurance company for her to be tested as well to see if she has a similar mutation NOW before she gets bc.

"Courage is not the absence of fear. It is acting in spite of it." Mark Twain Dx 8/13/2008, IDC, 5cm, Stage IIIB, Grade 3, 7/20 nodes, ER+/PR-, HER2-
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May 1, 2010 11:03PM AnacortesGirl wrote:

katsi and MRDRN -

What you posted is what I was thinking of.  Our family's specific mutation from Myriad.  Not likely that we'll find other women that will have the same mutation but, if one of us did, then it could be useful to know what types of cancers they've seen in their family.  Just more information to help us.

Jane_M -

My understanding of the lawsuit against Myriad included the very issue that you are seeing.  Myriad has restricted the research on these genes and research labs that would like to do further investigating on mutations of questionable significance can't do anything.  I'm looking forward to getting the appeal out of the way and clearing the road for a much broader research base.  I hope your daughter is negative.  My DD is waiting till her Canadian immigration is more secure.  I think she's going to file for permanent residency. 

Christy - BRCA2+; mets to bones and liver, Taxol/Sutent -> AC, BMX - no recon, Rads, Carboplatin, BSO, Veliparib trial (8/30/13-3/13/14) Dx 7/21/2009, ILC, 5cm, Stage IIIC, Grade 3, 14/17 nodes, ER+/PR+, HER2- Hormonal Therapy 9/1/2010 Aromasin (exemestane) Hormonal Therapy 2/1/2011 Dx 9/9/2012, ILC, Stage IV, Grade 3, ER+/PR-, HER2- Hormonal Therapy 9/9/2012 Femara (letrozole) Chemotherapy 3/29/2013 Xeloda (capecitabine) Hormonal Therapy 8/16/2013 Faslodex (fulvestrant) Chemotherapy 3/20/2014 Carboplatin (Paraplatin)
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May 2, 2010 06:24AM kittycat wrote:

Here is my mutation:

BRCA1, Deleterious, exon 13 ins 6kb

I found a couple people on the FORCE site that have this same mutation. 

2 time survivor of triple negative BC, postiive for BRCA1 gene mutation! 9 surgeries, 5 months of chemo and 6 weeks of radiation. Dx 6/17/2009, DCIS, <1cm, Stage 0, Grade 2, 0/0 nodes, ER-/PR-, HER2- Dx 4/30/2010, IDC, <1cm, Stage I, Grade 3, 0/10 nodes, ER-/PR-, HER2- Chemotherapy 6/16/2010 AC + T (Taxol) Radiation Therapy 11/15/2010
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May 2, 2010 10:11PM - edited May 10, 2010 05:56AM by hrf

There were quite a few on the FORCE site that had the same as me. I don't have the sheet in front of me but if I recall correctly it was 6174 Deleterious T. I think it is one of the 3 original ones. I'm BRCA2+

BRCA2+ first dx in Oct. 2004 2nd dx Feb. 2009 a new primary
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May 3, 2010 09:31AM jessicawollin wrote:

I told them I was of Ashkenazic Jewish decent and so they tested those 3 specific gene markers first. One was positive for the mutation so they stopped there. I can't remember what the marker was called, but there are only 3 that are mutated due to a specific Jewish decent and one of mine are mutated. So I had to be the one to notify all my extended family so they can consider the testing themselves.

Jessica Wollin
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May 10, 2010 03:07AM JennyB wrote:

Like Jane, I have a mutation (BRCA2), but they don't know if it's "deleterious" or not. Apparently there are only 5 others who've tested positive for this mutation, and they've all had cancer.

Myriad has said they'd test my parents for free to see if they have the gene. Neither of my parents has had cancer.

It's all very confusing. My oncologist is disregarding the result since he believes it tells us nothing.

Dx 3/18/2010, ILC, Left, 1cm, Stage IB, Grade 2, 0/4 nodes, ER+/PR+, HER2-
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May 10, 2010 05:58AM hrf wrote:

I don't think the BRCA status impacts on treatment. It impacts on future potential cancers and is very significant especially if one has children.

BRCA2+ first dx in Oct. 2004 2nd dx Feb. 2009 a new primary
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May 10, 2010 07:46AM - edited May 10, 2010 07:46AM by JennyB

hrf, I believe they would have done a few things more aggressively if I tested definitively positive. They would have recommended a mastectomy and ooph and definitely chemo. As it turned out, I just had a lumpectomy, and they're leaving my ovaries intact. I did choose to go for chemo, though I was a borderline case when it came to chemo.

Anyway, I don't know if my oncologist is rare in this, but my "negative" BRCA status results did affect his treatment suggestions in a fairly big way.

Dx 3/18/2010, ILC, Left, 1cm, Stage IB, Grade 2, 0/4 nodes, ER+/PR+, HER2-
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May 10, 2010 09:14PM - edited May 10, 2010 09:25PM by MRDRN

The advantage of getting a BRCA in the first place is hopefully to guide us for early detection and treatment.  I had to keep calling the Doc for symptoms of my fibroid and was told "they cause pain" and "they aren't always removed"...and much more that I will spare you of here.  I asked her and two other Docs to simply write for the gene test via Myriad.  They refused and later when I got my chart from her it did read "patient requests genetic screening" on more than one occassion. 

Fortunately, my sister and cousin were already in a Philly hospital system two hours away.  After I finnally convinced my PMD that I had problems, voiding/constipation, and my belly just felt bigger over months, she did send me to a urologist that confirmed urinary retention.....who sent me to a better GYN who said "Yes, I know what the BRCA gene is and you SHOULD get tested to see if I should take out your ovaries at the same time".   She wrote the order and before Christmas the Hospital two hours away got me in quicker and I had only one appointment.   They called right away with results and I was able to schedule the Total Hysterectomy....the fibroid grew to 9cms!  (biggest one).   I was worried about ovarian cancer and relieved it was not the case.   I am finding that one needs to be persistent is one is suffering.  Doctors are so busy these days and they will not call you...you need to call them, and form a partnership.  After getting BRCA results, I felt like people started to LISTEN and now I got a screening MRI without question!   The insurance covers this prevention!!!   Now I have small lesion dx thank God due to being BRCA which I was given the option of Lump but yes, very encouraged to have the Bi Mx (one being prophylactic) ...................as far as chemo, I was told that if I had 3 nodes, I would get it...my PET is negative thank God, and if I get the surgery soon, chances are, it did not enter the nodes.   Thanks for sharing your stories ladies, as I think it hopefully helps someone else.  

One other thing about BRCA specific treatment:  It is recommended that you get a GYN Oncologist to do your Hysterectomy/ or take out your ovaries.  I was told that going to a larger University setting would also have the lab capability to run more of the tests on the post op ovaries, than some of the small institutions.  I was so grateful for this advice....and i pass it it on to whoever reads this in order to help someone else. 

TAH March, 2010, SNB,BiMx with Immediate DIEP recon June 8,2010 BRCA 1 +, Stage 1 BC
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May 13, 2010 12:11AM kittycat wrote:

My onco told me that cancer patients that are triple negative and have the BRCA1 gene respond very well to chemo and radiation.  I don't know about BRCA2 because I have BRCA1, but it's probably the same case. 

If anyone is considering having a ooph/hysterectomy, I would highly advise going to a GYN onco, like MRDRN suggested.  I was supposed to get this surgery this week, but I was just re-diagnosed with BC.  I have an ovarian cyst that is clear, but needs to be removed.  I opted for a ooph/hyst to reduce my chances of ovarian cancer.  I will still get this, but have to deal with the BC issue first.  My GYN ONCO was going to do my surgery laproscopically, which is a 2-4 week recovery and barely any scars compared to them cutting into the bikini line.  I also learned about the Davinci robot method for this surgery (it's done laproscopically, too).  My friend works at one of our hospitals that performs this surgery and she says it's amazing.  I'm going to check into this method when I decide on getting the surgery done. 

Good luck!!!

2 time survivor of triple negative BC, postiive for BRCA1 gene mutation! 9 surgeries, 5 months of chemo and 6 weeks of radiation. Dx 6/17/2009, DCIS, <1cm, Stage 0, Grade 2, 0/0 nodes, ER-/PR-, HER2- Dx 4/30/2010, IDC, <1cm, Stage I, Grade 3, 0/10 nodes, ER-/PR-, HER2- Chemotherapy 6/16/2010 AC + T (Taxol) Radiation Therapy 11/15/2010
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May 13, 2010 08:39AM MRDRN wrote:

The Devinci does have a website, and you can see the Doc's in your area that do it,... but it didn't work for me at Hopkins.  It supporsedly gives a more direct approach and more steady than human hands, but they couldn't get the arms of the thing under my uterus I was told.  It is really a bummer because now I have scars and hope it doesn't interphere with my Diep.   They tried to use it but the fibroid was too big and the MRI even showed it beforehand as 7cm so not sure why they were so surprised, but then again I never saw my Doctor post op and now he is off to start a practice at California Irvine!   GOOD LUCK!!! :(((    The guy goes on vacation after my Friday Surgery, and would have never done a Friday, except that the "robot become available"   It costed $1800 extra dollars, and was a not effective.   .  It does work for many however and becomes a "minimally invasive surgery" with less recovery time when preformed right.  If a Doc is going on vascation, do you think he should operate on someone the DAY before?   The better physicians will plan to have a few days afterward to look after their patients.  Sorry but HAVE to vent here!   When it rains, it pours sometimes, doesn't it Kittycat?  Gosh I hope the next few weeks fly by for both of us!!!!

TAH March, 2010, SNB,BiMx with Immediate DIEP recon June 8,2010 BRCA 1 +, Stage 1 BC
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May 13, 2010 09:07AM - edited May 13, 2010 09:24AM by mnmom

I also have a variant of uncertain significance BRAC2   D1911E  only seen in 4 families previously & as I posted already my folks backed out of being tested.

Thanks

Dx 11/2008
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May 13, 2010 01:55PM kittycat wrote:

MRDRN - Thanks for the info on the Davinci method.  I might still keep my gyn onco and do the standard laproscopic method.  He's supposed to be the expert at it.  Oh well, I don't have to worry about it for a while.  I have a clear cyst about 4.5 cm wide.  Hopefully it doesn't grow!!! 

2 time survivor of triple negative BC, postiive for BRCA1 gene mutation! 9 surgeries, 5 months of chemo and 6 weeks of radiation. Dx 6/17/2009, DCIS, <1cm, Stage 0, Grade 2, 0/0 nodes, ER-/PR-, HER2- Dx 4/30/2010, IDC, <1cm, Stage I, Grade 3, 0/10 nodes, ER-/PR-, HER2- Chemotherapy 6/16/2010 AC + T (Taxol) Radiation Therapy 11/15/2010
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May 13, 2010 05:17PM - edited May 14, 2010 03:15AM by MRDRN

 Here is the website for folks who want to read more: http://www.davincisurgery.com/

I had an ovarian cyst that didn't change like the fibroid so I am sure you will be fine.   I am just glad you found the BC recurrance and are on the way to getting that treated before getting into the surgical menapause with oorph.  See the site HysterSisters for more information when you are at that point.  

I am in waiting mode now...the date is set in early June for the Bi Mx. After several weeks of anxiety, I have a decion, which is a bit of a relief.

TAH March, 2010, SNB,BiMx with Immediate DIEP recon June 8,2010 BRCA 1 +, Stage 1 BC
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May 16, 2010 03:34PM kittycat wrote:

MRDRN - good luck on you bmx surgery.  It was hard, but manageable.  I was off pain meds 5 days after surgery.  Are you having reconstruction too? 

Thanks for the link on the davinci surgery!  :)

2 time survivor of triple negative BC, postiive for BRCA1 gene mutation! 9 surgeries, 5 months of chemo and 6 weeks of radiation. Dx 6/17/2009, DCIS, <1cm, Stage 0, Grade 2, 0/0 nodes, ER-/PR-, HER2- Dx 4/30/2010, IDC, <1cm, Stage I, Grade 3, 0/10 nodes, ER-/PR-, HER2- Chemotherapy 6/16/2010 AC + T (Taxol) Radiation Therapy 11/15/2010
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May 17, 2010 02:17AM - edited May 17, 2010 02:18AM by mom2to

Katsie - I have the same mutation as you have listed - e 1250 x.  I had the test done july of 2008 - I can't get my brothers to get tested.   

Dx 6/20/2008, IDC, 1cm, 0/11 nodes, ER+/PR+, HER2-
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May 18, 2010 04:25AM MRDRN wrote:

Kittycat, 

Yes, I am doing an immediate Diep...I had to go to three consults before I could find someone to do it.  Why go through the expanders to "hold the pocket" if I did not need to?  The more I read the less nervous I am because so many on this board have been happy with their outcomes.  Thank God I found this early.  I hope there are no other surprises.    Do you know what the next step is for you yet Kittycat?   I meet the PS tomorrow and hope he doesn't mind the Davinci marks on my belly for the Diep transfer.....surgery on the 8th....can't wait!

MRDRN

TAH March, 2010, SNB,BiMx with Immediate DIEP recon June 8,2010 BRCA 1 +, Stage 1 BC
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May 18, 2010 05:19AM smithlme wrote:

My oldest sister, a 20+ year BC survivor, and I both carry R2520X (7786C>T) Deleterious. Her oldest daughter was tested and is negative! My oldest daughter wants to be tested and my other three kids haven't decided. I have three grand-daughters and a grandson due in September. I'm hoping the knowledge they all got from my diagnosis will help them all make informed decisions.

Linda

Dx 3/31/08, DCIS, ER+/PR- BRCA2+...I am NOT a survivor...I am a 2X breast cancer A$$ kicker! Dx 3/28/2007, IDC, Left, 2cm, Stage IIA, Grade 3, 0/9 nodes, ER-/PR-, HER2-
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May 23, 2010 10:53AM - edited May 23, 2010 11:16AM by MRDRN

Linda,

THat is really good that you are helping your family......in this way.  I just listened to this video about BRCA case study:

vimeo.com/8065098

TAH March, 2010, SNB,BiMx with Immediate DIEP recon June 8,2010 BRCA 1 +, Stage 1 BC
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May 23, 2010 01:04PM smithlme wrote:

In case someone doesn't know about it, there's a web site at www.facingourrisk.org. It's a web site and organization dedicated to BRCA gene mutations...

Linda

Dx 3/31/08, DCIS, ER+/PR- BRCA2+...I am NOT a survivor...I am a 2X breast cancer A$$ kicker! Dx 3/28/2007, IDC, Left, 2cm, Stage IIA, Grade 3, 0/9 nodes, ER-/PR-, HER2-
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Jun 7, 2010 04:08AM BRCA-BRAT wrote:

I am BRCA-2 with 4633-del 5 - deleterious, as my marker.

Regina
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Jun 27, 2010 11:58PM cassou1 wrote:

hi-i'm brca1 positive resultC61G(300T>G) deleterious. same as my sister, recently passed away(a year ago) whatever this all means

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Jun 28, 2010 08:37PM theredheadamy wrote:

Hi

I'm BRCA 1 positive with a deleterious mutation at 1996ins4. I'm also adopted, so no family history is available to me.

Amy 

Bilateral mastectomy, Right side ALND, Left side SNB, prophylactic supracervical hysterectomy 2/4/09; BRAC1+ Dx 12/19/2008, IDC, 2cm, Stage IIB, Grade 3, 1/6 nodes, ER-/PR-, HER2-
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Jul 3, 2010 09:50PM amy181621 wrote:

I'm BRCA2+ with a deleterious mutation at E1953X (6085G>T).  I don't have any symptoms of BC.  I was tested because my aunt had BC years ago and was tested this past fall.  I just got my results 3 days ago.  My sister does not want to be tested.  She thinks that regular mammograms will catch it so she doesn't feel it's necessary.  I had to know, though.

Amy - BRCA2+
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Sep 21, 2010 10:43AM - edited Aug 20, 2013 05:46PM by brca1953

I have the mutation 886delGT.  I don't think it's exactly rare, Myraid said there were over 50 with the mutation.  She said only the latest 50 come up when she runs a query.  There are 6 that are still living in my family.  I'm assuming the 8 deceasd all had same mutation.

Jo (BRCA2 w/extensive family history of BRCA2 & breast and ovarian cancer)
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Sep 21, 2010 11:41AM MRDRN wrote:

Cassou1

We have the same mutation.

MRDRN

TAH March, 2010, SNB,BiMx with Immediate DIEP recon June 8,2010 BRCA 1 +, Stage 1 BC

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