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BRCA 1/2 Mutations

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kim13 View Drop Down
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Post Options Post Options   Thanks (0) Thanks(0)   Quote kim13 Quote  Post ReplyReply Direct Link To This Post 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
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Post Options Post Options   Thanks (0) Thanks(0)   Quote Katdoll Quote  Post ReplyReply Direct Link To This Post 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).
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Post Options Post Options   Thanks (0) Thanks(0)   Quote SagePatientAdvocates Quote  Post ReplyReply Direct Link To This Post 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.


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


Int J Cancer. 2004 Jul 10;110(5):683-6.

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

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
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Post Options Post Options   Thanks (0) Thanks(0)   Quote SagePatientAdvocates Quote  Post ReplyReply Direct Link To This Post 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. 


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.


Edited by steve - May 22 2012 at 8:11am
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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mindy555 View Drop Down
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Post Options Post Options   Thanks (0) Thanks(0)   Quote mindy555 Quote  Post ReplyReply Direct Link To This Post 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
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Post Options Post Options   Thanks (0) Thanks(0)   Quote mindy555 Quote  Post ReplyReply Direct Link To This Post 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/

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
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Post Options Post Options   Thanks (0) Thanks(0)   Quote dawncoskren Quote  Post ReplyReply Direct Link To This Post 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
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Post Options Post Options   Thanks (0) Thanks(0)   Quote dawncoskren Quote  Post ReplyReply Direct Link To This Post 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
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Post Options Post Options   Thanks (0) Thanks(0)   Quote dawncoskren Quote  Post ReplyReply Direct Link To This Post 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
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Post Options Post Options   Thanks (0) Thanks(0)   Quote SagePatientAdvocates Quote  Post ReplyReply Direct Link To This Post 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..


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
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Post Options Post Options   Thanks (0) Thanks(0)   Quote dawncoskren Quote  Post ReplyReply Direct Link To This Post 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
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Post Options Post Options   Thanks (0) Thanks(0)   Quote boggsgrn Quote  Post ReplyReply Direct Link To This Post Posted: Oct 26 2013 at 10:53am
Hi i am I am BRCA 2 positive. Thanks
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Post Options Post Options   Thanks (0) Thanks(0)   Quote SagePatientAdvocates Quote  Post ReplyReply Direct Link To This Post 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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