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BRCA 1 and 2

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    Posted: Jun 10 2009 at 6:46pm
Hi Everyone,
 
I have been following this website with interest and finally have become a member. I was dx with triple negative bc in Jan 2008 at the age of 30. I have had a mastectomy and axillary clearance with 2 positive nodes. My treatment was dose dense AC and 12 weekly taxols, followed by 5 weeks of radiotherapy. So far NED Smile
 
I had suspected genetic involvement because my mum died of ovarian cancer at the age of 48. The shock came when I got my genetic testing back... I am positive for BRCA 1 and 2!
 
I am wondering if anyone else is like me and has both??
 
Lisa
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Post Options Post Options   Thanks (0) Thanks(0)   Quote outnumbered Quote  Post ReplyReply Direct Link To This Post Posted: Jun 11 2009 at 5:49am
Hi LIsa,
 
Welcome to the site although it sticks that you have a reason to be here. 
 
Thats a shocker, for sure.  You might want to post that question on the FORCE website http://www.facingourrisk.org/
 
My guess is that you will hear from Steve on this.  He is very knowledgeable about BRCA and has been involved with FORCE for quite some time. 
 
I am glad to hear you are NED and will pray that you remain that way!
 
Hugs!


Edited by outnumbered - Jun 11 2009 at 5:51am
~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

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Lisa down under!
 
So so sorry for the news you received!  You are one to trust your inner wisdom already thinking about your Mum and to be tested...others will encircle you with more information.  For now, I send you this....Hug
Suzie
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Dx: 1/09 Metaplastic TN IDC/3.5CM/DCIS/1.0;4/09 L mastectomy;6-11/09 Cytoxan/Taxotere X6;BRACA-; Recurrance 11/10 bone mets broke arm;Lung mets;rads X15; chemo/parp tbd 1/11
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Dear LIsa,
one of my dearest FORCE (www.facingourrisk.org) is a young woman who is BRCA1/2+. It is very rare. If a fetus inherits the BRCA1 or BRCA2 mutation from both parents it will not survive but you can inherit each mutation.

I am hoping that you are in the hands of BRCA savvy professionals-

a Certified Genetic Counselor
a medical oncologist
a breast oncologist
a gyn/oncologist...

The key words are BRCA savvy..this is a very important component and you need to understand, completely, what it means...especially having both mutations..

maybe you have assembled such a team already..if you have, great!!!
it is essential, in my unprofessional view, that you do so!!

I would suggest you go to the FORCE site and you can post there and also navigate the site and learn..but it is no substitute for the professionals listed above..

if you feel I can help you in anyway I would be happy to do so..

please send me a PM if you wish..

wishing you 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
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Thanks for your replies. I will definitely look up the FORCE website and maybe post my question there.
 
Steve, it is interesting that you say that people don't generally inherit the double mutation from one parent...because somehow I did???? My Dad was tested and he is negative to both BRCA 1 and 2! Maybe I was never meant to get past being a fetus!
 
I have got all of the professionals that you advised looking after me. I am getting my other breast removed in about 6 weeks with immediate reconstruction (expanders). I also have begun yearly pelvic untrasounds and blood tests through my gynaecologist. I actually was having these in my late 20's. I was being proactive, even when  I didn't know my BRCA status. The lump was found when I was breastfeeding...may have noticed thickening of my breast earlier if my breasts weren't full of milk.
 
If I think of anymore questions Steve, I will PM you. I am very impressed with your knowledge.
 
Thanks again everyone Smile
 
 
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Dear Lisa,

It is so hard for me to write this post...I feel compelled to be honest with everyone...that is the only way I know how to be...but it is so hard to write to a young woman when the news is so sobering...

My heart breaks each time I read about a young woman who was dx with breast cancer while pregnant, shortly after, while breast-feeding at times (as in your case) or within the first two years after giving birth. This occurs it seems to me most often in BRCA2+ women and early-onset ovarian cancer seems to happen most often in BRCA1+ women...and you are in the unfortunate position of having both.

when I wrote above that you needed to have a BRCA savvy gyn/oncologist on your team that is a different professional than a gynaecologist. The gynaecologist in this country is often the professional who is called a ob/gyn..the physician who delivered your child and quite often, women, understandably have total confidence in their opinions. But sometimes, from what I have seen, the ob/gyn is not BRCA savvy.

You need to speak to someone who is a BRCA savvy gynecologic oncologist. Perhaps you are but then you referred to a gynaecologist. They are different professionals...related, for sure, but different. I want to make sure that the person you are speaking to is a gynecologic oncologist(gyn/oncologist) in addition to your gynaecologist.

http://www.sgo.org/

There was a study by Dr. Steve Narod's group in 2005..here is the abstract-

Int J Cancer. 2005 Dec 20;117(6):988-91. Links
Effect of pregnancy as a risk factor for breast cancer in BRCA1/BRCA2 mutation carriers.

Cullinane CA, Lubinski J, Neuhausen SL, Ghadirian P, Lynch HT, Isaacs C, Weber B, Moller P, Offit K, Kim-Sing C, Friedman E, Randall S, Pasini B, Ainsworth P, Gershoni-Baruch R, Foulkes WD, Klijn J, Tung N, Rennert G, Olopade O, Couch F, Wagner T, Olsson H, Sun P, Weitzel JN, Narod SA.
City of Hope National Medical Center, Duarte, CA, USA.
Early age at first birth and multiparity have been associated with a decrease in the risk of breast cancer in women in the general population. We examined whether this relationship is also present in women at high risk of breast cancer due to the presence of a mutation in either of the 2 breast cancer susceptibility genes, BRCA1 or BRCA2. We performed a matched case-control study of 1,260 pairs of women with known BRCA1 or BRCA2 mutations, recruited from North America, Europe and Israel. Women who had been diagnosed with breast cancer were matched with unaffected control subjects for year of birth, country of residence, and mutation (BRCA1 or BRCA2). Study subjects completed a questionnaire detailing their reproductive histories. Odds ratios (ORs) and 95% confidence intervals (CIs) were derived by conditional logistic regression. Among BRCA1 carriers, parity per se was not associated with the risk of breast cancer (OR for parous vs. nulliparous = 0.94; 95% CI = 0.75-1.19; p = 0.62). However, women with a BRCA1 mutation and 4 or more children had a 38% decrease in breast cancer risk compared to nulliparous women (OR = 0.62; 95% CI = 0.41-0.94). In contrast, among BRCA2 carriers, increasing parity was associated with an increased risk of breast cancer; women with 2 or more children were at approximately 1.5 times the risk of breast cancer as nulliparous women (OR = 1.53; 95% CI = 1.01-2.32; p = 0.05). Among women with BRCA2 mutations and who were younger than age 50, the (adjusted) risk of breast cancer increased by 17% with each additional birth (OR = 1.17; 95% CI = 1.01-1.36; p = 0.03). There was no significant increase in the risk of breast cancer among BRCA2 carriers older than 50 (OR for each additional birth = 0.97; 95% CI = 0.58-1.53; p = 0.92). In the 2-year period following a birth, the risk of breast cancer in a BRCA2 carrier was increased by 70% compared to nulliparous controls (OR = 1.70; 95% CI = 0.97-3.0). There was a much smaller increase in breast cancer risk among BRCA2 carriers whose last birth was 5 or more years in the past (OR = 1.24; 95% CI = 0.79-1.95). A modest reduction in risk of breast cancer was observed among BRCA1 carriers with 4 or more births. Among BRCA2 carriers, increasing parity was associated with a significant increase in the risk of breast cancer before age 50 and this increase was greatest in the 2-year period following a pregnancy. Copyright 2005 Wiley-Liss, Inc

..................

The line that jumped out of the abstract to me was-

"Among women with BRCA2 mutations and who were younger than age 50, the (adjusted) risk of breast cancer increased by 17% with each additional birth."

This is a horrible, horrible situation...Not only does a BRCA2+ woman have to worry about breast/ovarian cancer she also has to worry about having more children..I hate this mutation with every fibre of my being and I hate writing this to you..

If your gynaecologist has not mentioned this study to you please ask her/him to refer you to a BRCA savvy gynecologic oncologist (gyn/oncologist) or have your BRCA savvy breast oncologist refer you or have a BRCA savvy medical oncologist refer you. You may have to be your advocate and do some work to find the right professional. There are several Aussies on the FORCE board and if you start a thread..e.g I live in Sydney (or wherever) and need a BRCA savvy breast oncologist and BRCA savvy gynecologic oncologist I believe some women will answer you..They are around you just may need some help finding them..

Your surveillance of TVUs and blood tests (probably CA-125?) unfortunately are not effective in finding early ovarian cancer and a recent
study revealed at the ASCO conference (I posted this on a recent ASCO thread) and in addition, most unfortunately, the CA-125 seems to be an ineffective diagnostic tool for recurrent ovarian cancer as well. 75-80% of ovarian cancer in this country and I would imagine around the world is discovered as Stage III/IV and as we both know (my grandmother died from ovarian cancer when she was 47...and I am sorry for your loss) that is a major problem..Don't get me wrong these tools are the best we have at the moment but I have been told by gyn/oncologists I respect that the TVU and CA-125 are not effective for finding early Stage ovarian cancer. Generally Stage 0/1 ovarian cancer is first found at the time of prophylactic oophorectomy..An accurate test that could consistently find ovarian cancer, early ,would be a huge blessing for women around the world.

Also at the recent ASCO conference the head of MSKCC's Clinical Genetics Dept. in NY , Ken Offit, announced that they are going to test all ovarian cancer patients, with their permission of course, for the BRCA genes. In fact Ken told me after the session that the program is under the direction of Dr. Noah Kauff (who is my daughter's doctor) and that they just hired a Certified Genetic Counselor from Australia..MSKCC's advice to BRCA1+ women is to have an oophorectomy by the age of 35 if their family is complete. Heavy advice based on their experience of early-onset ovarian cancer in this group of women.

sorry for such a long, difficult post....My daughter and I are firm believers that "knowledge is power" but at times the knowledge is just brutal. I am sorry for my daughter and for you and for all the thousands of women who are dealing with this BRCA horror. Yes, women can decide to have risk reduction surgeries to try and save their lives but it still truly sux..having said that what was even more brutal was my grandmother and mother's experience...both totally clueless..if we had the knowledge then that we have now maybe my grandmother would have seen me grow into a man and my mom (deceased at 46 when I was 20) would have seen at least some of her six grandchildren; she did not see any of them..a fact that still breaks my heart both for her and for them...she simply adored children...as well as inheriting the BRCA mutation from her I also inherited her deep love of children..

Lisa, I am so sad thinking of all this...but I feel I must write you...please take the information knowing that it is written out of deep concern for those with the BRCA mutations...I am sorry if I scare some with my posts but it is truly scary stuff and please don't take my word for anything and please, please find the BRCA savvy professionals and discuss with them.
I pray that someday we will look back at what the BRCA+ women went through, in 2009, with compassion and understanding and also a joy that those days are gone for future generations. I believe that we are getting closer to understanding this monster and with that understanding will come the ability to slay it in the future..


good luck to you..

all the best,

Steve






Edited by steve - Jun 15 2009 at 2:43pm
I am a BRCA1+ grandson, son and father of women affected by breast/oc-my daughter inherited mutation from me, and at 36, was dx 2004 TNBC I am a volunteer patient advocate with SAGE Patient Advocates
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Post Options Post Options   Thanks (0) Thanks(0)   Quote trip2 Quote  Post ReplyReply Direct Link To This Post Posted: Jun 15 2009 at 2:09pm

Only today have I come across a very valuable post from Steve and I echo his wishes that some day this will all be a non-issue.

 
I feel this forum and Force are pioneers, teaching women to learn to be proactive, helping us to learn about what we have or may run into and from this point on those who come after us will have the groundwork to continue.
 
Until only recently there was nothing.  Now we have something for our future loved ones.
Stage 2 2003
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I believe I am being as proactive as possible but please let me know if there is further actions I could take with surgery/screening. I am:
  • having a prophylactic mastectomy in a few weeks time. I have already had a mastectomy and 5 weeks radiotherapy on my left breast which had the tumour.
  • having blood tests done every 6 months to check tumour markers for breast cancer, liver function test and full blood count (as follow up from breast cancer).
  • annual blood tests for CA -125 as well as other tumour markers/proteins to check my ovaries (unfortunately I cannot remember which ones, but there are a few).
  • Annual COGU pelvic ultrasounds until I turn 35 (in 3 years). I will then have my ovaries removed.
  • Will not have anymore children, although I wonder what the risk of developing a new primary cancer would be without any breasts? Or even the risk of a recurrence from my initial triple negative breast cancer?

I will look into whether I could see a gynaecologist/oncologist but what would they do differently to the specialists I am currently seeing?

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Post Options Post Options   Thanks (0) Thanks(0)   Quote SagePatientAdvocates Quote  Post ReplyReply Direct Link To This Post Posted: Jun 15 2009 at 7:21pm
Dear Bella,

I think a gyn/oncologist might want you to do more intensive surveillance..even though the TVUs and CA-125 are both ineffective, it seems, to find early ovarian cancer those tests are all we have at the moment..The other risk for BRCA+ women even post oophorectomy is endometrial cancer. I think about a 4% risk remains so my daughter does CA-125 blood work every six months even though she has already had a complete hysterectomy and oophorectomy.

The gyn/oncologist is the one who should remove your ovaries when you are ready to do so because special procedures must be followed for BRCA+ women that includes

-special peritoneal washes
-removal of as much of the fallopian tube as possible..if you are not having a hysterectomy there is a small bit of fallopian tube that remains but rarely casues cancer. Based on family history and other factors the gyn/oncologist may recommend more extensive gynecologic surgery. That was the case with my daughter. The surgeon did not like the fact that she had a large benign fibroid removed from her uterus and also years before had a LEEP procedure that the surgeon felt "compromised her cervix" so she had the mote extensive surgery. After her surgery the biopsy revealed a new benign uterine fibroid and two benign ovarian cysts, neither of which was picked up on the TVU that was done several days before..
-careful sectioning and biopsy of the fallopian tubes

most gynaecologists do not do this and it is essential that the special procedures be followed..BRCA+ women I think are at a 200 x greater risk for cancer of the fallopian tube than women in the general population. You need a BRCA savvy gyn/oncologist who is not doing this for the first time. By the way there are several Australian BRCA+ women on the FORCE board and they are very open and friendly.

Normally you should be reducing your risk of a recurrence of breast cancer by about 90-95% by having your second mastectomy but there are no guarantees because the surgeons cannot remove 100% of your breast tissue...and sometimes unfortunately there is micro-metastasis that shows up years later even though lymph nodes seem normal.

My daughter also has a Digital Rectal Exam performed by her gynecologist every six months as well as a breast exam performed manually by her breast oncologist..he also always examines her lymph nodes.

There are some oncologists who also recommend an annual MRI to try to screen for endometrial cancer although it is extremely difficult to find.

Finally we(I am including myself) are at increased risk for melanoma. I sat
next to a very nice Australian oncologist on the way to the ASCO conference and he said "melanoma is increasing in Australia at a very alarming rate". we should all see a dermatologist regularly but being in Australia and being BRCA1/2+ puts you at increased risk in my opinion.

You are being proactive but some would recommend even more aggressive surveillance..Recognizing that the TVUs and CA-125 are problematic diagnostic tools for early detection of ovarian cancer I think most doctors would recommend six months exams not yearly.

please understand I am not a doctor and will never give you medical advice. I am trying to distill as best I can the surveillance my daughter is going through..You must be comfortable with yours. I cannot stress enough that you need to see BRCA knowledgeable physicians. Most ob/gyns who have delivered a BRCA+ woman's children tell them "of course I can do the oophorectomy" and of course the woman wants her doctor to do it...In my view that is a mistake and a gynecologic oncologist is the professional to do that job unless your gyn has had the training in the special procedures..A gyn/oncologist is specially trained in cancer. A gynaecologist normally is not..

The other professional you should have in your life is a BRCA savvy medical oncologist who can completely evaluate your family history and biopsies etc and try to give you a global view of what your ongoing surveillance should be instead of the often narrow perspective a breast oncologist has or a gyn/oncologist. They are tough to find but they are out there and I believe they are around in Australia as well..and if you have pancreatic and/or colon cancer in your family a medical oncologist will probably want you to do surveillance for those as well.

Also, I am not sure how your healthcare system works and you may have trouble getting the additional surveillance covered by insurance.

Bella, I can't tell you how much your story hit a nerve in my soul. Again, I am sorry to write so openly but I don't know what else to do...Having both mutations is an escalation of what is a difficult situation. You must fight it with every tool at your disposal and my dear friend who is BRCA1/2+ is healthy and the mother of two wonderful children but her surveillance is intense..

I wish you the very best of luck...Please make sure you have BRCA knowledgeable physicians in your life..

all the best,

Steve
I am a BRCA1+ grandson, son and father of women affected by breast/oc-my daughter inherited mutation from me, and at 36, was dx 2004 TNBC I am a volunteer patient advocate with SAGE Patient Advocates
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Thanks so much for this valuable information Steve. I googled gyn/oncs in Melbourne and found the team that treated my Mother in the early 1990's. They were fantastic Dr's and I would be so happy to be under their care.
 
I am also booked in to see a Dermatologist in August to begin regular surveillance, especially since I have many moles on my body.
 
I want to do everything I can to fight against my terrible genetics..I have a 2 year old son and need to be here for him. My poor mother never stood a chance but as you have said, knowledge is power.
 
Lisa
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Dear Lisa,

I awoke to your post...it's 522 am in Los Angeles and your post warmed my heart. You see, sometimes I write from my heart but the message can be difficult to emotionally/intellectually assimilate and I have had the experience in the past of some women being upset with me and the message. Especially on a website you just never know what someone's reaction might be so I was heartened that you took my words in the constructive, positive way they were meant.

I am very relieved that you will be seeing an excellent group of specialists and also that you will start a regular surveillance program re: melanoma. Something we all need to do especially in countries like Australia and in southern California.

My dream is for you to dance at your daughter's wedding and see your grandchildren.

I wish you a long, productive life filled with much joy..

all the best,

Steve



Edited by steve - Jun 16 2009 at 3:37am
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 outnumbered Quote  Post ReplyReply Direct Link To This Post Posted: Jun 16 2009 at 4:54am

Hi Lisa,

 

I knew Steve would provide a wealth of information. 

 

I am so glad you seem to have all bases covered.  I am glad you have found a oncological gynecologist.  I do want to reiterate the differences between onc/gyn and regular gyn based on my personal experience.  I am planning on having a supra-cervical hysterectomy the end of August (once I am healed from the other surgery in July) I am having this surgery abdominally not laparoscopic.  The reason for this is that they want to remove everything intact in case there is something cancerous (which they do not expect at this time).  In a laparoscopic procedure they would have to cut up the uterus and could miss something, or even leave a “crumb” behind.  My regular gyn would have been happy to do a laparoscopic procedure.   I also want to add that the reason I cannot have a LAVH (lapr. assisted vaginal hysterc) is because I have opted to keep my cervix.   Anyway, what I am trying to say is the onc/gyn has a different approach or point of view; similar to the different points of view between the breast surgeon and the plastic surgeon.   

 

For the last year my surveillance was been every six months for the US, CA-125, and exam.  I do not know what insurance laws are in Australia, but if you can go more often than once a year, I would.  Hopefully the doctors you have found will recommend that.

 

Best wishes and hugs!!!!

 

~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

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Post Options Post Options   Thanks (0) Thanks(0)   Quote outnumbered Quote  Post ReplyReply Direct Link To This Post Posted: Jun 16 2009 at 4:56am

Hi Steve,

 

I just wanted to thank you for being here.  You are always available to provide so much information and support! 

 

I just wanted to offer you a hug Hug  and to say thank you.

~Sara

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

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

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

BSO 9/3/09

NED since 08/05/2008
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Post Options Post Options   Thanks (0) Thanks(0)   Quote SagePatientAdvocates Quote  Post ReplyReply Direct Link To This Post Posted: Jun 16 2009 at 8:57am
Dear Sara,

thank you so much for your kind words...means more to me than you could ever imagine.

my daughter's name is Sari, also age 41...she in August will be 5 years out
NED, I pray...

wishing 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
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