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what young women w/ breast cancer should know

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    Posted: Aug 16 2009 at 8:09pm
Normally, I don't believe in coincidence but.....I was in the middle of typing a post for TNBCF about being upset that more young women with TNBC were not referred for genetic counseling/testing. I decided to spend a little time on the FORCE board and there was a post called "What every young woman with breast cancer" should know which is spot on to what I wanted to write. Thanks to FORCE for the brochure and thanks to Pam and Nancy for graciously mentioning FORCE where appropriate. Just to be clear, I have no official relationship with FORCE.

I have posted, probably, ad nauseum to most of you by now the study abstract from Dr. Narod's group's study (I am posting it again as a p.s.). In fact when I came on the board in April it was in my very first post and it was the main message I wanted to impart to everyone. Since then, I have spent a lot of time here and have been struck by the number of young women who have TNBC and who were never advised to have genetic counseling/testing..I believe that if they had received that advice some lives could have been saved.

Here is the information on the FORCE brochure-

"FORCE has a new tri-fold educational brochure which we are making available for free to the health care community and anyone concerned about hereditary cancer. The free brochure:

"What Every Young Woman with Breast Cancer Should Know"

Can be viewed at:

http://www.facingourrisk.org/publications/order_form.html http://www.facingourrisk.org/docs/brochure_young_women.pdf

and ordered at:

http://www.facingourrisk.org/publications/order_form.html

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

From my perspective there are a number of important reasons that anyone here under 50 who has TNBC should talk to a Certified Genetic Counselor.....

if you are advised to test and test positive the knowledge is essential possibly both for your treatment and information your family needs. If your are BRCA1+, either your mom or dad is/was positive as well. A Certified Genetic Counselor will explain all.

from the brochure-

"Women with “triple negative” breast cancer (one
that is negative for estrogen receptors, proges-
terone receptors, and Her-2/neu status)
may be more likely to have a BRCA1 mutation.The cost for gene testing can vary depending on which
test is ordered. The cost is usually covered for young
women diagnosed with breast cancer."

I think the tricky part here is the word "may" especially because many Latinas and African American women are not BRCA1+, even though they had TNBC, but I do know several Latinas and African American who are BRCA1+. So who decides who should test?..I think that would be a task for a Certified Genetic Counselor.

I believe that there are many early-onset TNBC women who have not been tested for the BRCA1 mutation who may be BRCA1+. If they are, the recommendations for treatment/surgery might be different and certainly surveillance would be recommended for ovarian cancer which I rarely see talked about on this site.

Most importantly, even if your treatment/surgery was unchanged, there are other family members who need to know if you have the mutation because they may have it as well and if you are positive they need to seek genetic counseling/testing as well...A lot of lives can be saved, potentially.

I am not advocating any woman do anything, surgery-wise but I feel strongly that a early-onset TNBC woman should consider genetic counseling/testing..

and if you decide to test you are in my prayers that the result will be negative....I strongly believe that "knowledge is power" and the knowledge may save some lives...

I also feel it is extremely important that the services of a Certified Genetic Counselor(CGC) be utilized. Myriad's direct marketing program through physicians doesn't do the job, in my view. The counseling received before and after a result from a CGC is infinitely better than getting the results from someone (even a physician or nurse) who is often not trained professionally to handle genetic issues..

all the best,

Steve

p.s. Narod et. al. abstract-

http://www.ncbi.nlm.nih.gov/pubmed/19298662?ordinalpos=6&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_DefaultReportPanel.Pubmed_RVDocSum

BMC Cancer. 2009 Mar 19;9:86. Links
The prevalence of BRCA1 mutations among young women with triple-negative breast cancer.

Young SR, Pilarski RT, Donenberg T, Shapiro C, Hammond LS, Miller J, Brooks KA, Cohen S, Tenenholz B, Desai D, Zandvakili I, Royer R, Li S, Narod SA.
Women's College Research Institute, Department of Public Health, The University of Toronto, Toronto, Canada. sryoung37@aol.com
BACKGROUND: Molecular screening for BRCA1 and BRCA2 mutations is now an established component of risk evaluation and management of familial breast cancer. Features of hereditary breast cancer include an early age-of-onset and over-representation of the 'triple-negative' phenotype (negative for estrogen-receptor, progesterone-receptor and HER2). The decision to offer genetic testing to a breast cancer patient is usually based on her family history, but in the absence of a family history of cancer, some women may qualify for testing based on the age-of-onset and/or the pathologic features of the breast cancer. METHODS: We studied 54 women who were diagnosed with high-grade, triple-negative invasive breast cancer at or before age 40. These women were selected for study because they had little or no family history of breast or ovarian cancer and they did not qualify for genetic testing using conventional family history criteria. BRCA1 screening was performed using a combination of fluorescent multiplexed-PCR analysis, BRCA1 exon-13 6 kb duplication screening, the protein truncation test (PTT) and fluorescent multiplexed denaturing gradient gel electrophoresis (DGGE). All coding exons of BRCA1 were screened. The two large exons of BRCA2 were also screened using PTT. All mutations were confirmed with direct sequencing. RESULTS: Five deleterious BRCA1 mutations and one deleterious BRCA2 mutation were identified in the 54 patients with early-onset, triple-negative breast cancer (11%). CONCLUSION: Women with early-onset triple-negative breast cancer are candidates for genetic testing for BRCA1, even in the absence of a family history of breast or ovarian cancer.
...............

by the way the full BMC Cancer article is available at no charge on the website..just click on free article and perhaps take it to your oncologist and please consider getting a referral to a Certified Genetic Counselor..

if your doc doesn't know any...try
www.nsgc.org


























Edited by steve - Aug 16 2009 at 8:10pm
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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Hey Steve
Did try to post a reply last night - don't know where it went.  Too tired to repeat today but thank you for your post.
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Post Options Post Options   Thanks (0) Thanks(0)   Quote Julia Quote  Post ReplyReply Direct Link To This Post Posted: Aug 18 2009 at 4:11am
Ack. Thank you - I think. This is an area I have to give a lot of thought to. I'm 41. If I get tested, and it's negative, I'll feel fabulous. If it's positive, I'm going to be in such a moral quandary about what I should do for/tell my children.

Best I read your links in detail, and do a bunch more research. I have a tendency to distrust tests - especially the tests done in pregnancy - so I know I'm not going into this unbiased.
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Steve,

Thanks for the info... I live in Canada and our standards or protocols are a little different here than they are in the states so this give me good information to have a discussion with my oncologist.
Diagnosed 2008,age 38, Invasive DCIS Stage 3, Grade 3, Removed 24 LNs on Left, 3+ and Sentinal Node Right. Treatment: 2 Mastectomys, AC/Taxol/16 Radiation.
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Hi Kazza,

I spent an hour on a post the other day and I hit submit and an error message came up and I lost the whole thing….so frustrating…after your experience from now on I am going to type it in word..save it…cut and paste and then submit..I thought it was something with my laptop but I am guessing it is the site?

If you have the strength please post again. I would love to see what your feelings are on this subject..

Dear Diane and all,

There are many different ways women handle testing for the BRCA gene. I have found that most women who have had a diagnosis of breast cancer do test after speaking to a Certified Genetic Counselor(CGC). I really think that is the key piece in this puzzle. A knowledgeable CGC is the best professional in my opinion to explain what the BRCA mutation is all about and also the best person to suggest to a woman if she should test.

No one is going to insist that a woman (or man) test. It is a decision that you need to make after gathering information from an CGC and also, as you suggested, by doing your own research. IF you are interested I can help you with the research. I have been doing it a couple of hours a week for 4+ years. Just send me a PM and I will send you my email. I think it will be easier to do things via email if you wish..

Diane, your wrote “If I get tested, and it's negative, I'll feel fabulous. If it's positive, I'm going to be in such a moral quandary about what I should do for/tell my children.”

I agree with the first part of your statement. Regarding your moral quandary..In my view your children, AT SOME POINT (with the guidance of a CGC) need to be told if G-d forbid you have the BRCA mutation. The timing of that is also based on your children’s ability to handle the information. You will know your children best so that will be your call…I would say though that children will talk to each other so it may be hard to keep it a secret from one..It is generally suggested that a daughter of a BRCA+ woman test no later than the age of 25, and start serious surveillance via MRI or mammogram at that age if positive. I have seen many exceptions to that especially in families where the women have had breast cancer in their early 20’s.

If a woman is single and doesn’t want to test- well she is responsible for herself and if that is her choice I can understand, to a certain extent. I believe it is an unfortunate choice because other family members might benefit from the information. If she tests positive she got the mutation from one of her parents and the knowledge can be important to them or a sister, aunt, niece etc. Having children and not testing is another matter in my view….or testing positive for the mutation and not telling a child…especially a daughter…is really unfair to the child, in my view…

A female child who may carry the BRCA mutation, but is not aware, can be a great risk for breast and ovarian cancer....and males can be at lesser risks for various cancers especially prostate and breast...

The BRCA mutation does not care if your child has been told or not it will do its nasty thing. A young woman who knows she has the mutation can take actions that will perhaps save her life..

This site is filled with many women who were perhaps at high risk for breast cancer, based on family history, or were diagnosed with TNBC and were still not told about genetic counseling/testing. My belief is that some of these women would have benefitted from prophylactic mastectomies before their diagnosis of cancer and perhaps, for some, their first surgery after a dx of TNBC should have been bilateral mastectomies instead of a lumpectomy…

and yes, I am not a doc and I am not suggesting surgery/ies for anyone but I am struck by the number of TNBC women here who have recurrences and/or new primaries…

and yes, mets are mets and perhaps surgery would have not helped some…BUT if a woman knew she was BRCA1+ and knew her odds of getting cancer in her lifetime….some women choose to cut their risks..Some women want to do surveillance and “find the cancer early” and others “don’t want to find it…ever.” Different strategies and all are respected and understandable..and some women never test.

The big wild card in all of this, in my unprofessional opinion, is ovarian cancer. Ovarian cancer is called the “silent killer” because there are simply, at this point in time, no accurate tests for early detection. In this country 80% of ovarian cancer is diagnosed as Stage III/IV disease with a five year life expectancy. Therefore, most of the time, by the time you are diagnosed with ovarian cancer you have a MAJOR problem with mets to other organs. The advice for BRCA1+ women is to have their ovaries removed by the time they are 35, if they have completed their family. By the way, most Stage 0/I ovarian cancer is found at the time of oophorectomy and most Stage 0/I ovarian cancer is curable.

This may seem like horrendous choices to some here…I understand and agree…The choices are awful but at the end of the day I wish my grandmother had the knowledge we have today. She was definitely finished having her family when she was 28 (yes you read that right…my mother was born when she was 18 and her kid sister ten years later)..If she had an oophorectomy at age 30 or 35 or 40 maybe she never would have gotten ovarian cancer, dx as Stage IV and she passed four months later at the age of 47. Would have been wonderful for her to see her three grandchildren. As it was she got to see one, me, for just under two years..Similarly my mother, with 20-20 hindsight, would have been better off with a PBM rather than getting breast cancer as Stage III disease that killed her in three years.

My prayers are for solutions that don’t involve such major surgery/ies but for now, for some, it is a risk-reducing strategy that some women choose….and again, I am not recommending anyone do anything surgery-wise bit I feel it is important to speak to a CGC and have counseling and perhaps chose to test.

Again, cancer will do its awful thing whether a woman tests or not and will perhaps damage children whether they are told or not.

and please, please do not rely on anything I have written...please speak to a CGC, a BRCA savvy breast oncologist and a BRCA savvy gyn/oncologist for medical advice.

all the best,

Steve

p.s. Fire4fly, I am delighted you are speaking to your oncologist about this. One of the most knowledgeable docs in the world about BRCA is Dr. Steve Narod at University of Toronto...maybe your oncologist can get in touch with him?


Edited by steve - Aug 18 2009 at 3:48pm
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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Hey Steve
Thank you for your reply and the new post.  I am feeling really good about doing the test, I having spoken with my daughter and son about what it means (with limited information) and they are both happy for me to do the test and find out.
 
Having looked at other posts it has become quite clear that the mutation does increase the chances of mets or recurrance.  If I follow my instincts I am fairly sure that the result will be positive (ouch).  Add to that not only am I adopted so is my ex hubby who is the father of my children.  It just occurred to me that we found out his paternal history some ten years ago - yep he is jewish - now they think I may be to so the kids get a double whammy. (what is the chances of that??)  But as you say knowledge is power and by having this test it could save their lives - depending on the decisions they choose to make. 
 
I do believe your posts on this subject will save lives or at least extend some.  Good on you it is an important subject.  As a point the family I personally know that has had an almost faultless pass of the mutation has had 11 woman die - only two were breast primary the rest were ovarian so you make a very valid point.  It was not till the 2nd to last that the rest of the family found out about the mutation.  One of them  an alive one- one of my very best friends still to this day refuses to have the test. I have harped for 13 years at her. 
 
She did recently agree that she would come with me and do it when I had mine but has since pulled out.  I can do nothing but respect her decision - but she has agreed to let her son know the implications so he can choose himself to be tested.  One of the family has tested negative - so she could be the same - just after losing too many people close to her she does not want to invite cancer??? Her hubby has prostate, her best friend has TNBC (me) and other peoples cancer has defined her world for the last 13 years - so I can see why she just don't want to know.
 
For me not only am I trying to save my life - but more importantly that of my twin, my neice, my children and grandchildren (when they arrive - hopefully a long way from today).  I struggled with the impact on my 16 year old daughter - but since had the good sense just to talk to her.  Surprisingly her response was very pragmatic, fairly sure that will change as my disease takes it course but at least we can be very honest about it.  Perhaps she will just need to grow up a little quicker - but she seems determined to do that anyhow - silver lining in having a very independent, stubborn and outspoken teenager -that very nature makes them adapatable to lifes curveballs. (never thought I would be grateful for attitude!!)
 
It has finally dawned on me that my first visit with my onc he was basically between the lines saying you are screwed.  I thought he was just being a little negative but I clicked ( sh** that took me two months)and checked with DH at yep in his opinion that was basically what he was saying. No wonder DH was so upset that night - I just didn't listen.  (don't know where my daughter got it from???) Maybe chemo brain is good for facing reality to. 
 
I see my onc next week so will put him on the spot for what he thinks my chances are.  He is very honest and a straight talker which I really like - and he did tell me that he is attempting to cure me so that is positive - but the word attempt makes me think he is not so sure.  If I am honest and go with gut feeling (which is usally spot on) than I know chances are not good.  But who knows what may happen tommorrow - I will give him every chance to find the way to cure and will keep a positive attitude along the way.  Like I say I just want to know how nasty this beast is - I tend to be a little stubborn so not going to roll over for it.
 
I also have a very important mission - inspired by you.  In NZ it is difficult to get the genetic testing.  My understanding is to qualify you have to have a family history of at least 4 to qualify for it.  I only qualify due to early onset and no known family history due to being adopted (today I am very thank full for not knowing where I came from) . 
 
 I was recently talking to a local lady who had early onset TNBC( only just turned 40) she has two lovely young children 6 & 4, and she was refused a referral due to not having any family history.  When we talked she was clearly very dissappointed that I could get the testing and she couldn't and she is not even one year out from dx.  I actually met her through this site (i digress).  Add insult to injury she has private insurance and I have always chosen not to ( you know I will never get sick).  But then i do pay a considerable amount of tax each week (more than the average wage) and we do have an excellent public health system. I cannot fault the treatment and support I have received since my true dx.  Sadly though they do not see tests like this as having a high priority - and if the public system does not then the private system seems to refuse funding too.  Just the way the system works.  But we could be saving lives here!!!!!
 
I work in a very politcal enviroment - working for local government - so I need to do some political lobbying and need to find a research doc here in NZ to support the cause. Picking I will start with the doc heading the Beatrice trial here (avastin) I am on the drug arm so surely he will have time to speak with me - he has a vested interest in my case afterall.  (we do not get a lot here in NZ that get randomised on to actually get the drug). It simply is not fair that we cannot have a test that could save our loved ones.  I feel very lucky that I can have it but it does not make it right that others cannot.
 
Thankyou for making this your mission - I am shortly to join you - might just finish chemo first. You are right the test only tells us risk and does not mean anyone will definetly get cancer - but at least young women will have a choice to act or not.  Either way it equals power and power is what we need to fight this nasty beast!!!
 
No wonder i lost this post the other day - perhaps a lot of babble and anger.
 
Thanks for reading
Hugs
Kazza
 
 
 
 
 
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I have known that I was BRCA1+ for just over a year.  My first thought was for my daughter.  My daughter is 13 now.  I have never sat down and had a formal conversation about the ramifications of this; however I have not kept any secrets.  She is too young to deal with this “officially” but I am sure she has heard me talking about it from time to time.  My feeling is secrets make things scarier.  Anyway, I was not sure how much she got until I was in the hospital from my last surgery.  She came to visit with a beautiful scrap book she had made for me.  On the last page was a letter she wrote to me, and I would like to share a portion of it. 

 
Our family has changed in the last two years.  I will only try to remember the good times in this experience not the bad.  I know if this genetically happens to me we will both be strong and ready. 
 
So, she really surprised me.  She got it a lot more than I thought and she seems ok with it.  I have asked her since then if she wants to talk about it and she said no I am fine.  So I leave it alone.  By the time she is ready to test, I am very hopeful that there will be vaccines or other preventative strategies rather than surgery.    

 

I hope this helps.

 

~Sara

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

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

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Steve,
 
I have a quick question for you...
 
Have there been any studies which show one specific mutation to be "nastier" than another?  We happen to be realted with 187delAG.
 
Thanks.
~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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Hi Cousin Sara,

yes, I address you that way because in a way, I think those with the Ashkenazi Founder's mutation have this bond. It seems there has been a lot of intermarriage over the years in the Ashkenazi community and that has not helped our gene pool and many genetic diseases have been identified-the most publicized one is Tay-Sachs.

It is my understanding that the Ashkenazi Founder's mutations are bad, but especially all the BRCA1 mutations, in general, are bad-the figures for lifetime risk of breast cancer in BRCA1 mutations is slightly higher than BRCA2 (maybe 80-85% vs 75%) and perhaps equally important is that 85% of the time when a BRCA1+ woman has breast cancer she has TNBC. That is not the case with BRCA2+ women. That is not to say that some BRCA2+ women do not have TNBC but not nearly as often.

In the case of ovarian cancer the lifetime risks for BRCA1+ women are in the area of 45-50%. In the case of BRCA2+ women it is my understanding the risks are about 25%...

Also one of the huge problems is that BRCA1+ women often have early-onset (<50 years old) breast and/or ovarian cancer disease. By the way the risks for breast and ovarian cancer are separate. Just because you have TNBC e.g. doesn't mean that you risk goes away for ovarian cancer.

and the cancer can skip around...My grandmother had ovarian, my mom, her sister and my daughter all breast cancer..and my mom' sister with breast cancer (dx at age 41) had a daughter who passed from pancreatic cancer at 49.

Sara, I am sorry, what we share is a nasty mutation but I think it is on us to be as positive as positive as we can be and live life to the fullest and try to find some joy every day.

Also, there is a lot of research going on as to why certain families have an overwhelming amount of ovarian cancer and little breast cancer and vice-versa....My dream is that if they can figure out why that is certain families seem to be "protected" vs breast cancer or ovarian cancer, we can come closer to a cure..It is my understanding that what the researchers are looking at are called "modifiers." Other genes may be involved that protect a BRCA+ woman from one type of cancer.

The three Ashkenazi Founder's mutations are-

BRCA1(185/87delAG)
BRCA1(5382insC)
BRCA2(6174delT)


From what I have read the BRCA1(5382insC) mutation, in certain populations, can be even worse that our mutation especially in the early-onset population-



High frequency of BRCA1 5382insC mutation in Russian breast cancer patients
European Journal of Cancer, Volume 42, Issue 10, Pages 1380-1384
A. Sokolenko, N. Mitiushkina, K. Buslov, E. Bit-Sava, A. Iyevleva, E. Chekmariova, E. Kuligina, Y. Ulibina, M. Rozanov, E. Suspitsi



BRCA1 5382insC variant was repeatedly detected in Jewish breast cancer (BC) families residing in USA and Israel as well as in non-Jewish familial BC patients from Poland, Latvia, Hungary, Russia and some other European countries. However, the distribution of BRCA1 5382insC mutation in unselected BC cases vs. controls has been systematically investigated mainly in Ashkenazi Jews. Here we applied a case-control study design in order to evaluate the impact of BRCA1 5382insC allele on BC incidence in St Petersburg, Russia. High frequency of the BRCA1 5382insC allele was detected in a group of bilateral breast cancer patients (10.4%; 15/144). Randomly selected unilateral BC cases demonstrated noticeable occurrence of BRCA1 5382insC mutation as well (3.7%; 32/857), with evident excess of the carriers in the early-onset (⩽40 years) category (6.1%; 6/99) and in patients reporting breast and/or ovarian tumours in first-degree relatives (11.3%; 11/97). Strikingly, none of 478 middle-aged controls and 344 elderly tumour-free women carried the 5382insC variant. The presented data confirm a noticeable contribution of BRCA1 5382insC mutation in BC development in Russia, that may justify an extended BRCA1 5382insC testing within this population.

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

Sara, I don't mean to depress you but it seems we are at risk for other cancers as well according to the Israeli letter below...As best we can we need to be vigilant, without losing our minds in the meantime...

Published Online First: 16 February 2007. doi:10.1136/jmg.2006.048173
Journal of Medical Genetics 2007;44:467-471
Copyright © 2007 by the BMJ Publishing Group Ltd.
LETTER TO JMG
Cancer risks in carriers of the BRCA1/2 Ashkenazi founder mutations
Luna Kadouri1,*, Ayala Hubert1,*, Yakir Rotenberg1, Tamar Hamburger1, Michal Sagi2, Chovav Nechushtan1, Dvorah Abeliovich2, Tamar Peretz1
1 Sharett Institute of Oncology, Hebrew University-Hadassah Medical Center, Jerusalem, Israel
2 Department of Human Genetics Laboratories, Hebrew University-Hadassah Medical Center, Jerusalem, Israel
Correspondence to:
Correspondence to: 
Dr L Kadouri 
Sharett Institute of Oncology, Hadassah Medical Center, Jerusalem 91120, Israel; luna@hadassah.org.il
Background: The risks for cancers other than breast (BC) or ovarian (OC) cancer in breast cancer gene 1 and 2 (BRCA1/2) mutation carriers were elevated in studies of carrier families. However, case–control studies did not confirm this observation.
Objective: To compare the risks for other cancers in BRCA1/2 mutation carriers and non-carriers, all affected with BC and/or OC. Both groups share risk modifiers of BC/OC, which enabled assessment of the role of BRCA1/2 mutations.
Methods: 1098 Ashkenazi Jewish women affected with BC and/or OC were ascertained during 1995–2003; molecular testing revealed 229 BRCA1 and 100 BRCA2 carriers and 769 non-carriers. COX proportional hazard models were used to evaluate the risk of other cancers. Analyses were conducted including all other cancers or only those diagnosed after BC/OC diagnosis.
Results: The HRs for any other cancer were 2.6 (95% CI 1.7 to 4.2, p<0.001) and 1.8 (95% CI 0.95 to 3.6, p = 0.07) in BRCA1 and BRCA2 carriers, respectively. The corresponding colon cancer HRs were 3.9 (95% CI 1.3 to 12.1, p = 0.02) and 2.3 (95% CI 0.5 to 11.3, p = 0.3) in BRCA1 and BRCA2 carriers. The HR for lymphoma was 11.9 (95% CI 3.1 to 46.2, p = 0.001) in BRCA2 carriers. Risk estimates for other cancers after the onset of BC/OC were similar.
Conclusion: A 2.5-fold increase in any other cancer and a fourfold risk of colon cancer were found among BRCA1 carriers. The corresponding HRs in BRCA2 carriers were non-significant, except for the markedly elevated risk of lymphoma. These results suggest a role for BRCA1/2 mutations in colorectal cancer risk in a subgroup of BC/OC-affected carriers.

Abbreviations: BC, breast cancer; BCLC, Breast Cancer Linkage Consortium; BRCA1/2, breast cancer genes 1 and 2; CC, colon cancer; HR, hazard ratio; OC, ovarian cancer; RR, relative risk

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

aren't you glad you asked...

I mean "knowledge is power" but it all really sux. That is why this community is so important. Most of the outside world doesn't "get it";
we do and we need to constantly educate and support each other and surround each other with love...we are particularly in need of that...this is really awful stuff.

all the best,

Steve


Edited by steve - Aug 19 2009 at 5:24am
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: Aug 19 2009 at 6:31am
Dear Kazza,

I am very happy you took the time and energy to write your important post. Thank you for doing that.

I am very glad you are testing and I am also particularly happy you spoke to your 16 year old daughter. I also recognize it may not be appropriate, in certain families, to have that conversation.

Your post hit a nerve deep inside me because I was 16 when my mother told me that she had a painful lump in her breast. My mother was a single mom and we were very close.
She went to our family doctor, a GP, who told her “don’t worry about your lump…cancer doesn’t hurt.” Six months later the lump seemed a bit larger to her (I never saw it) and she told me, again. I brilliantly (I shudder at the memory) told her..”mom, the doctor said cancer doesn’t hurt..please don’t worry.” In another six months my mother told me the lump still hurt and it was bigger, she felt. This time I suggested “why don’t we ask Uncle Al.” Uncle Al was Dr. Alfred A. Angrist, my grandfather’s first cousin and one of the dearest men I have ever met. He was Chief Pathologist at Albert Einstein College of Medicine in NYC. Uncle Al (may you rest in peace, sweet soul) told us “you should see a breast oncologist.” He arranged an appointment and we did. The surgeon told my mother after examining her..”I don’t think you have cancer and cancer normally doesn’t hurt.” She decided to have her lump removed. I was with her the night before the surgery and the doc came in “so I can see you in your bra. I am going to make the incision so that your scar will be hidden.” He then asked me to leave the room and I did but I heard her say to the doctor as I walked out…”doctor, I want my son back here for the rest of the meeting.” I was 17. The doc then brought out some paperwork and said..”you need to sign this release, otherwise I can’t do the surgery.” He further explained, "in the unlikely event I find cancer, you are giving me permission to remove your breast." My mother, a very intelligent woman, just nodded but said nothing..Then I said, “doctor, now I need you to leave the room for a moment. I need to talk to my mom about this.” He was clearly pissed off and said “I am very busy, don’t take too long.” Nice, huh?

In any event, my mother said “Stevie, what did he say?”…a part of of me couldn’t believe that…at a certain point in the conversation she just tuned out…I now have seen it many, many times but I didn’t understand it then. I explained all of this to her and she said “Stevie, what should I do?...I don’t want to lose my breast.” Again (and again I shudder at the memory) I told her “the doc said it is just a formality but if you don’t sign it he won’t operate on you.” “what should I do?”..”mom, you have no choice you have to sign it if you want to do the surgery.”…

she signed it and I brought the doc his form in the hallway…no thanks, no good nite, no good luck..he took the form, put it in her file and was gone..

The next morning I was waiting in my mother’s hospital room to come back from her surgery which I was told “will take about an hour.” After waiting 2 then 3 then 4 then 5 hours a nurse came in and gave me the bad news…The doctor had found cancer and they removed my mother’s breast in what is called a Halsted Radical Mastectomy. I was crushed…Crushed doesn’t come close to describing it. Completely devastated is perhaps a better description but as I think back, I don't think words can express my shock and sadness.

“Does my mother know?”, I asked the nurse…don’t remember her name , but her sweet face is etched permanently in my hard drive…”The doctor spoke to her, I am sure but quite often the patient doesn’t remember. I will tell her when I go to recovery..I think she is just starting to wake up.” “Oh, no, please let me be the one to tell her..She is my best friend and I am hers. She needs to hear it from me.” “I am afraid that is against hospital policy. You can see her after I tell her. I will come get you.” At that the dam broke and I completely broke down and begged her. I remember gently grabbing her forearm and pleading “please, let me tell her. I need to tell her.” Incredibly she agreed…she put her index finger to her lips and said “promise me, not a word to anyone.” I agreed and she took me up to recovery…

My mother was asleep and then somehow I believe she sensed my presence (I now know that feeling very well as a father..one of my sons suffered from nightmares, when he was a little boy, and he used to stand on my side of the bed, not saying a word, until I awakened..he would then climb over me, lie down between my wife and I and I would put my hand on his chest and say "it's o.k." and he would fall asleep instantly..years later I asked him..how long do you think you stood there..he said "about a minute, no more..I could never figure out how you knew I was there..but you always did")…

My mother opened her eyes and asked, “what happened , Stevie?”….”the doctor was here…didn’t he explain everything?”…she said in a slurred voice, “I think he was here but I don’t remember anything.” At that my heart sank. I wanted to tell her but a part of me was hoping that she had remembered so that I wouldn’t have to tell her…I tried to speak and the words did not get out of my throat. It was such a bizarre feeling...the words would not come out..Finally they did and I saw the pain in her eyes as she assimilated the information. I wince and am crying at that memory as I type. she gently said..“o.k. Stevie, thank you for telling me…” and then she drifted off to sleep..

As I am writing all of this I realize that my role as an advocate actually started with my mother. I went to all her important meetings and radiation treatments…she had no chemo..this was early 1960’s and chemo was a disaster with even more horrid side effects than today and no evidence of helping folks…

I now know, from many meetings, that many people can really benefit from someone who cares being at an important meeting. It was fascinating to me…at the last FORCE conference a Certified Genetic Counselor who deals with dozens of women with breast cancer every week told us that when she, herself, was told that she had breast cancer all she heard were those words and after that she literally heard nothing..all she saw was the doctor’s lips moving...and she is a M.D. and a CGC but she is also a person.

In any event ,Kazza, you wrote from your heart so I decided to as well.

I believe the main thing that kept my sanity throughout my mother’s terminal battle with cancer was the fact that early on we agreed to be honest with each other. Her “tuning out” in the hospital was not the last time that happened. I was with her at other consultations..One doctor showed us an X-ray of her back with mets to her spine…and again after we left, she said “what did he say…I dind’t hear everything..it’s bad, huh?
and I told her…

That honesty, that bond was the hallmark of our relationship and I have followed that policy with my wife and six children. Within several days of learning I was BRCA1+ I told all my children then aged 19-41…and if I get cancer, they all will know.

Kazza, by telling your daughter you are treated her with respect, you are treating her like a young woman not a kid and I think the truth will help her deal with whatever may come down this road…and hopefully all will be well…and yes, again, I understand other children are not ready for such information but I have met several young women who have tested at the age of 20 and they are positive for the BRCA mutation and they are formulating their strategies for dealing with this…Their paths differ but at least they have the knowledge and in my view, as horrible as it is to know and assimilate the knowledge it is vastly better than being clueless as my grandmother, mom, aunt and cousin were. At times, you have a chance to save your life. That's what the knowledge may give you and if not your life than the life of a loved one...or even a family member who you have no relationship with but nevertheless the information may save their life.

sorry so long-winded.

Kazza, please try to utilize the important services a CGC can offer.

good luck to you!!!!! You are in my prayers for a negative test result..

all the best,

Steve


Edited by steve - Aug 19 2009 at 6:35am
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 Kazza Quote  Post ReplyReply Direct Link To This Post Posted: Aug 19 2009 at 1:22pm
Hey Steve
I am sure i am not the only one, who cried reading your post.  It is easy to imagine and feel the pain and anguish you went through as such a young man.  I so appriecate how easy my life was as a teenager when all I had to worry about was my make up and where was the next party.  I was in such a hurry to grow up.  Funny how little things seemed so important back then - I now realise for others huge things that were important were going on. Ungrateful little tyke I was.
 
I can imagine that you were devasted when you daughter was dx and equally in discovering you are a carrier.  It is not easy to cope with once let alone twice.  But what is evident from your wonderful family is that horrible experience taught you perhaps the most important lesson in life - live it to the full - be prepared and then appreciate each and every day. You seem to have learnt that from a very young age - your Mum would have been very proud.
 
Thankyou for sharing your story - again it serves as a reminder that we are not the only ones affected by our cancer.  I know of a young woman 19 years old who lost her Mum to BC when she was 6 years old.  Today she is a drop out and into every type of drug you can imagine and is very agressive.  But to me I still see a beautiful innocent young girl who was scared and is angry Mum was not around.  I hope and prayer every day that she will one day find a way to turn her life around and that she does not have to go through dx herself.  Sadly somehow we all forgot or didn't recognise level of impact it had on the kids.  That is not to say that family have not tried to help her - just she has yet to be able to accept that help.  I still vividly remember standing on the deck and it started to rain - and this perfect picture of innocence turning around and asking "why is Mummy crying?" Enough to break even the hardest of hearts!!
 
Sorry I have taken this thread away from the all important topic.  Just feeling extremely emotional.
 
Hugs
Kazza
 
 
dx June 2009
Mas 30/june IDC, TN, Grade 3
3/18 nodes, Stage 2b?? Tum 4cm,2cm and 1cm

Age 39
Ouch - too stubborn for this beast got too much to do!!!
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