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BRCA 1/2 Mutations

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Susie View Drop Down
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Post Options Post Options   Thanks (0) Thanks(0)   Quote Susie Quote  Post ReplyReply Direct Link To This Post Posted: Jul 16 2011 at 3:55pm

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

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

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

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

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

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

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

Written on behalf of the WECARE Study Collaborative Group.

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

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


.........

This is the  study I was refering to.. Susie
dx 10/08,age 56,.75 cm. Stage1 Grade3,lumpectomy,SN neg..,AC 12/08-02/09,35rads,03/09-05/09,BRCA2+(E1415X),06/09,oophorectomy 10/09,
Zometa - IV/mo.,07/09-08/10, lumpectomy #2 10/20/10 NED
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Susie View Drop Down
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Post Options Post Options   Thanks (0) Thanks(0)   Quote Susie Quote  Post ReplyReply Direct Link To This Post Posted: Jul 16 2011 at 3:41pm
Hi Ashley, I just sent you a private msg. Trying to find the link to the Malone study for you to read.. S
dx 10/08,age 56,.75 cm. Stage1 Grade3,lumpectomy,SN neg..,AC 12/08-02/09,35rads,03/09-05/09,BRCA2+(E1415X),06/09,oophorectomy 10/09,
Zometa - IV/mo.,07/09-08/10, lumpectomy #2 10/20/10 NED
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Post Options Post Options   Thanks (0) Thanks(0)   Quote Susie Quote  Post ReplyReply Direct Link To This Post Posted: Jul 16 2011 at 3:37pm
Hi Ashley, I just sent you a private msg. I am trying to find the link to the Malone Study..
dx 10/08,age 56,.75 cm. Stage1 Grade3,lumpectomy,SN neg..,AC 12/08-02/09,35rads,03/09-05/09,BRCA2+(E1415X),06/09,oophorectomy 10/09,
Zometa - IV/mo.,07/09-08/10, lumpectomy #2 10/20/10 NED
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Post Options Post Options   Thanks (0) Thanks(0)   Quote ashbug369 Quote  Post ReplyReply Direct Link To This Post Posted: Jul 16 2011 at 11:12am
Susie, I too am BRCA2+ E1415X.  I am a four year survivor, diagnosed at 35.  I have searched the internet about my particular mutation and your posts were the only thing I found.  Would love to know if you have more information.  Thanks ~Ashley
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Post Options Post Options   Thanks (0) Thanks(0)   Quote sstefano Quote  Post ReplyReply Direct Link To This Post Posted: Mar 03 2011 at 3:37pm
I am BRCA1  (5385insC) .
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Post Options Post Options   Thanks (0) Thanks(0)   Quote Ethan07 Quote  Post ReplyReply Direct Link To This Post Posted: Mar 02 2011 at 9:18am

I am BRAC-1 +  deletion 5083del 19

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Post Options Post Options   Thanks (0) Thanks(0)   Quote Barbi Quote  Post ReplyReply Direct Link To This Post Posted: Feb 27 2011 at 9:02pm
Thanks Steve and Lulu for the info. I have seen lots of info but can never have too much!
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Post Options Post Options   Thanks (0) Thanks(0)   Quote SagePatientAdvocates Quote  Post ReplyReply Direct Link To This Post Posted: Feb 27 2011 at 4:01pm
Dear Barbi,

if you are in the U.S.

http://www.nsgc.org/

I think it is a wonderful profession.

all the best,

Steve
I am a BRCA1+ grandson, son and father of women affected by breast/oc-my daughter inherited mutation from me, and at 36, was dx 2004 TNBC I am a volunteer patient advocate with SAGE Patient Advocates
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Post Options Post Options   Thanks (0) Thanks(0)   Quote Lulu Quote  Post ReplyReply Direct Link To This Post Posted: Feb 27 2011 at 3:41pm
i have emailed my boss to see if on the off chance i can get funded for it... its a long shot but nothing ventured nothing gained.

will let you know what she says tomorrow.

Barbi im not actually a genetic counsellor per se but a breast care nurse in genetic screening so i see ladies who have a family history who are coming for their annual screening and will be doing pre-op counselling for women opting for risk reducing surgery.. i dont do this yet as a set clinic but obviously these type of discussions and referral for genetic testing etc are part of my role... ill pm you the information.
04/06-13mm,ER+, gd1, stg1,R WLE, rads
05/09-19mm,TNBC,gd3,stg1,LVI,L WLE,E-CMF,rads
01/10-BRCA2+ c.2409T>G
09/10-TAH&BSO
08/11-IPL nodes -L WLE- tax/carbo, Rads
08/13-R lung & LN mets. ENCHANT trial
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Post Options Post Options   Thanks (0) Thanks(0)   Quote SagePatientAdvocates Quote  Post ReplyReply Direct Link To This Post Posted: Feb 27 2011 at 3:24pm
Hi Lulu,

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

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

THURSDAY 10 MARCH

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


I am a BRCA1+ grandson, son and father of women affected by breast/oc-my daughter inherited mutation from me, and at 36, was dx 2004 TNBC I am a volunteer patient advocate with SAGE Patient Advocates
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Barbi View Drop Down
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Post Options Post Options   Thanks (0) Thanks(0)   Quote Barbi Quote  Post ReplyReply Direct Link To This Post Posted: Feb 27 2011 at 2:52pm
Lulu, Thanks for the info on your BRCA testing. That makes sense.  I knew that by not getting the BART test, I am basically excluding myself from the piece of knowledge that it could mean a positive vs the negative I am now given.
 
I would be interested in information on what you did to become a genetic counselor. The counselor at my university based center gave me some info and encouragement to look into this field as it is such demand and should only grow. I am already an RN.  If you have any info you could share, could you pm me? Thanks, Barbi
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Post Options Post Options   Thanks (0) Thanks(0)   Quote Lulu Quote  Post ReplyReply Direct Link To This Post Posted: Feb 27 2011 at 1:28pm
Hi Steve that looks really interesting and would love to attend however £200 is a bit out of my budget as id have to pay for accomodation and transport as well... which is a really pity... if you know of anyway to go at a cheaper cost please let me know....

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

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

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

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

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

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

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

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

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

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

lulu xx
04/06-13mm,ER+, gd1, stg1,R WLE, rads
05/09-19mm,TNBC,gd3,stg1,LVI,L WLE,E-CMF,rads
01/10-BRCA2+ c.2409T>G
09/10-TAH&BSO
08/11-IPL nodes -L WLE- tax/carbo, Rads
08/13-R lung & LN mets. ENCHANT trial
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Post Options Post Options   Thanks (0) Thanks(0)   Quote zoomommy2 Quote  Post ReplyReply Direct Link To This Post Posted: Feb 27 2011 at 1:27pm
Brenda,
Congratulations on doing so well!  May that continue forever!  Thank you for the prayers!
Lee in Denver
dx6/09,stageII,gr3,(L)mastectomy 7/09,ACx4,Taxolx7,Avastin study,gall bladder surgery 1/10,4/11 Stage 4, mets to lung, 4/11 Started Taxotere and Xeloda, 5/11 Taxotere stopped, off Xeloda
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Post Options Post Options   Thanks (0) Thanks(0)   Quote Barbi Quote  Post ReplyReply Direct Link To This Post Posted: Feb 27 2011 at 9:25am
Lulu,
How can that be?  Was the test different? Are we smarter now than then?  I was tested in January, but did not do the BART testing, which tests for an even rarer subset of the BRCA gene, but mine was negative.  Do we all need to find out what kind of test was done? Any info would be appreciated. Thanks, Barbi
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Post Options Post Options   Thanks (0) Thanks(0)   Quote Charlene Quote  Post ReplyReply Direct Link To This Post Posted: Feb 27 2011 at 7:53am
I am BRCA negative.  My report states "No Mutation Detected."  But, according to a recent study done at M.D. Anderson (Science Daily, Sept. 30, 2010) "Patients with TNBC that also have mutations in the BRCA gene appear to have a lower risk of recurrence, compared to those with the same disease without the deleterious genetic mutation." So, I don't think the news is all bad, if you are BRCA+.
 
Charlene
DX 3/10 @59 ILC/TNBC
Stage 1, Grade 2, Multifocal; Lumpectomy/re-excision
SNB 0/4 nodes, BRCA-; Taxotere/Cytoxan X4, 30 rads
3/14:NED
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Post Options Post Options   Thanks (0) Thanks(0)   Quote SagePatientAdvocates Quote  Post ReplyReply Direct Link To This Post Posted: Feb 27 2011 at 1:59am
Dear Lulu,

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


just in case you can make it would love to meet you..

I am sending you a PM with my contact info..

Dear steph,

seems like many folks with rare alleles...

all the best,

Steve
I am a BRCA1+ grandson, son and father of women affected by breast/oc-my daughter inherited mutation from me, and at 36, was dx 2004 TNBC I am a volunteer patient advocate with SAGE Patient Advocates
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Post Options Post Options   Thanks (0) Thanks(0)   Quote briestarr Quote  Post ReplyReply Direct Link To This Post Posted: Feb 27 2011 at 1:31am
I haven't checked in for a while...  so, here it is!!  Hello everyone!  I pray for all of you all the time!  I am thankful I am doing very well!  I have been back to work now for 7 months now and it is going well... all tests are good and I am clean from Cancer all together!!  The sernoma is shrinking and so is my boob is shrinking....any advice??
DX TNBC Feb 2010
age 48
Lumpectomy 2cm
6 nodes removed, all clear
Chemo A/C and Taxol 8 sessions
Radiation 33x
BRCA 1 and 2 negative
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Post Options Post Options   Thanks (0) Thanks(0)   Quote Lulu Quote  Post ReplyReply Direct Link To This Post Posted: Feb 26 2011 at 10:27pm
I tested negative in the BRCA3 research trial after my first breast cancer in 2006 but got re-tested in 2010 after i got then second tumour and was found to be BRCA2 carrier... my mutation is c.2409T>G on exon 11.

i got it from my dad and have no family history on his side was only because of personal history and mum and great gran had BC but negative for the mutation.

son 16 and daughter 19 have a 50% risk of inheriting it but not been tested yet.

i work as a breast care nurse in genetic screening.
04/06-13mm,ER+, gd1, stg1,R WLE, rads
05/09-19mm,TNBC,gd3,stg1,LVI,L WLE,E-CMF,rads
01/10-BRCA2+ c.2409T>G
09/10-TAH&BSO
08/11-IPL nodes -L WLE- tax/carbo, Rads
08/13-R lung & LN mets. ENCHANT trial
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Post Options Post Options   Thanks (0) Thanks(0)   Quote steph Quote  Post ReplyReply Direct Link To This Post Posted: Dec 31 2010 at 12:58pm
brca2, y803x, germline not wild-type.  I called Myriad 2 years ago and my specific mutation had been found only 6 times.  (now, 7 as my little sister has it)  I cannot find anyone with this mutation and would love to know more as my father was adopted.  I also know that as opposed to missing a letter at the 707th position, my line actually stops.  I plan to call Myriad again.  
dx Sept 4 2007
IDC Stage 2T N1
BRCA2+ Y803X germline
4 A/C 4 Taxol
Bilateral Mastectomy 2-15-08
5 nodes Negative
Finished Rads 5-20-08
DaVinci Salpingo Ooph 4-2009
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Post Options Post Options   Thanks (0) Thanks(0)   Quote amylynn Quote  Post ReplyReply Direct Link To This Post Posted: Aug 28 2010 at 8:11am

Laura,

  Hi.  Hope all goes well with the exchange and recovery is easy.  Sorry to hear about the pains, hope the go away soon. 
 
 I finsished radiation in July and now am planning my reconstruction/remove left breast/oopherectomy for Nov.  I went to the breast surgeon for a follow up from my mastectomy from last year and saw the nurse practioner who says she felt a 1.5 cm lump in my left breast.  I can't feel it and she didnt seem that worried, but I am.  I have a mammo/ultrasound scheduled for Friday and I am going to call my onclogist to see what he thinks, but the thought that this could start again..Confused.  Hopefully its nothing, but it will be a long week.
 
 Keep in touch and take care of yourself!
 
Amy
36 at dx IDC 2/09, 8cmx3cm grade 3,BRCA1, Cl Trial-4- Taxotere,4-AC,6-Avastin,4 cycl Xeloda
9/09-rght mast.w/tissue exp
PCR
Avastin x10,28 rads,done 7/10
left mast/w bi-lat DIEP & OOPH
Mets 6/2012
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