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Very Important News re: TNBC/BRCA testing

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Post Options Post Options   Thanks (0) Thanks(0)   Quote overwhelmed Quote  Post ReplyReply Direct Link To This Post Posted: Dec 22 2012 at 7:37pm
I believe the guidelines to test those who are under 60 (?- I am not sure of the age) is new.  When I was first diagnosed, testing wasn't considered because there was no history of breast cancer in my immediate family.  That changed about a year and a half ago when the NCCN changed their guidelines to recommend testing of those with TNBC under a certain age.   I had to point the insurance company to the new guidelines.  At first they said no, and then they said yes because of the new guidelines regarding TNBC before a certain age.
At any rate, when looking into this a bit further I found that a Myriad Genetics actually owns the patent on the BRAC 1 &2 genes.  That's the reason the test is so costly.  Who would have thought a company could own the patent on a gene.  That just doesn't seem right. 
 
DX ILC TNBC 3/10 at 50, Stage IIb; Grade 3; 5.1 to 7 cm,SNB neg;TC-6 rnds, 30 rads, Avastin-18 rnds, BRAC 1&2-
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Post Options Post Options   Thanks (0) Thanks(0)   Quote SagePatientAdvocates Quote  Post ReplyReply Direct Link To This Post Posted: Dec 22 2012 at 8:33pm
Dear overwhelmed,

In my view it isn't right and if the Supreme Court agrees the cost of testing will drop dramatically. 

http://www.nytimes.com/2012/12/01/us/supreme-court-takes-up-question-of-patents-in-gene-research.html?_r=0

I believe that each year many women in our community do not get tested for economic reasons and that is very, very unfortunate. There is another component to having the BRCA mutation and that is a separate risk (in addition to the 75-85% lifetime breast cancer risk) 25%-45% risk of ovarian cancer. Unfortunately, there are no accurate diagnostic tests for detecting early ovarian cancer. 80% of ovarian cancer is not found until it is Stage III-IV disease which is just a tragic situation. So many women with the BRCA mutation have risk-reducing gynecologic surgery.

If a woman can't afford to find out whether she has the BRCA mutation and does have it she remains at high risk for ovarian cancer and well as not truly understand her increased risks for cancer in her contralateral breast. Myriad does have a program, as sweetpickle wrote (and thank you for mentioning that), for certain women who meet their very stringent requirements for free testing.

In my view, more needs to be done for the women in our community..When a woman has the BRCA11+ mutation and has breast cancer 70% of the time it is TNBC but the converse is not true; if you have TNBC that does not mean that 70% of the time you are BRCA+. So you need to test to find out and if your insurance company will not pay for it and you cannot afford the test, you are stuck.

I don't use words like tragedy lightly but I feel this is a tragic situation. Not only can't the woman, for economic reasons, get the information that could possibly save her life, her family remains uninformed, perhaps putting many other lives at risk.

And please remember, for those of you with the BRCA mutation, you had to get the mutation from either your mother or dad. It is important for them to get tested as well. At times, it is clear, as in my family with at least ten in the family with breast and/or ovarian cancer that it was on my Mother's side. Suggest you get the word out to relatives on the affected side (if you can find out). 

Also very importantly, if you have children, there is a 50-50% chance that they will inherit the mutation. My eldest daughter has it and my youngest daughter doesn't. And it doesn't skip generations so that my youngest daughter's son, my adored grandson, will not have it because his mom doesn't and his dad's family is basically cancer-free.

with my love to all,

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 overwhelmed Quote  Post ReplyReply Direct Link To This Post Posted: Dec 22 2012 at 8:53pm
Steve,
I agree.  We all need the information.  In my case, I wasn't BRAC 1 or 2 positive, but I believe I have a genetic connection that hasn't yet been identified.  My paternal gr mother had colon cancer in her 60's.  Her daughter, my aunt, died of colon cancer in her 50's.  My aunt's daughter had breast cancer i her 40's, and I had breast cancer just shy of  my 50th birthday.  My brother has pre cancerous lesions in his colon.   While I am not Brac 1 or 2 positive, I believe that there is a colon/breast cancer genetic issue on my dad's side of the family.  More testing would help define, not only those that are Brac 1 &2, but those who may have another genetic relationship not yet identified.  The only way they will find out this information is through testing. Yet,  a patent on a genetic mutation means that testing is too expensive for  many who may actually carry the gene.  I know that I was floored when I found out that testing cost nearly $4000.  But, it seems that the cost relates to the patent and not to the actual cost of the testing.  I find that really sad and disturbing.  It seems that not all are in it to find the cure as quickly as possible.  I am not usually a cynic, but sometimes it's difficult not to be.
 
We all need to know if we are BRAC 1 or 2+.  We can make decisions based on that knowlege and our children, siblings and parents can make decisions based on that knowledge.  We can also begin to identify the other genetic mutations.
 
I am always amazed to find out that finding the best treatment and a cure isn't always the number one priority with these companies.
 
Lori
DX ILC TNBC 3/10 at 50, Stage IIb; Grade 3; 5.1 to 7 cm,SNB neg;TC-6 rnds, 30 rads, Avastin-18 rnds, BRAC 1&2-
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Post Options Post Options   Thanks (0) Thanks(0)   Quote SagePatientAdvocates Quote  Post ReplyReply Direct Link To This Post Posted: Dec 22 2012 at 9:34pm
Dear Lori,

If you haven't yet, I would suggest speaking to a Certified Genetic Counselor(CGC) about something called Lynch Syndrome which is characterized by a heavy family involvement with colon cancer. There is also a breast cancer and ovarian cancer component to the disease.

Testing can be complicated...The basic one is HNPCC but there are other more specific ones that can be done..believe the test is much less expensive.


Many Lynch Syndrome families have colon cancer at early ages than your family but I think it would make sense to have a CGC look at your complete cancer family tree and see if HNPCC tresting is suggested.

warmly,

Steve




Edited by steve - Dec 22 2012 at 9:35pm
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 overwhelmed Quote  Post ReplyReply Direct Link To This Post Posted: Dec 22 2012 at 11:28pm
Thanks, Steve. 
I haven't heard about Lynch Syndrome, but have heard that there can be a breast/colon cancer genetics relationship.  When I first got cancer I only knew of my aunt dying of colon cancer.  It was when I spoke to her daughter that I found out about my grandmother having colon cancer and my cousin having breast cancer.  If I look at my dad's side of the family, his mother had colon cancer, one of her two children had colon cancer and two of her six grandchildren had breast cancer and one grandson had precancerous colon polyps.  So, half of each generation.  It seems to me that there is some gnetic connection, but it could also just be random.
 
I wonder why they didn't test for Lynch Syndrome when they tested me for  Brac 1 & 2.  I know that it is an expsense, but it seems that if a cure is to happen sooner rather than later, they need to have all of the available information about each one of us.  Unfortunately, that isn't the way it is.
 
Lori
 
DX ILC TNBC 3/10 at 50, Stage IIb; Grade 3; 5.1 to 7 cm,SNB neg;TC-6 rnds, 30 rads, Avastin-18 rnds, BRAC 1&2-
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Post Options Post Options   Thanks (0) Thanks(0)   Quote SagePatientAdvocates Quote  Post ReplyReply Direct Link To This Post Posted: Dec 23 2012 at 12:50am
Dear Lori,

With the amount of colon cancer (especially) and breast cancer in your family I would be surprised if your insurance company did not cover the cost of testing. But then again, with the number of insurance company stories I have heard over the last several years from women who had to fight(and many ultimately won the battle) for various things I suppose I should say I am cautiously optimistic that it will get paid.

Here is a good review from The Mayo Clinic on Lynch Syndrome. By the way this genetic condition is named after Dr. Henry Lynch. I had the good fortune to meet Dr. Lynch at a genetics conference a few years ago. What a brilliant, lovely man. 


By the way, his son Dr. Patrick Lynch specializes in colorectal cancer at MDACC. I met him briefly last year when I had a colonoscopy. We had a very nice short talk and I told him that he reminded me of his dad..as they say sometimes "the apple doesn't fall far from the tree." 

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 cheeks Quote  Post ReplyReply Direct Link To This Post Posted: Jan 14 2013 at 12:01pm
Bump for new members
Lump found 11/08
DX: 2/09 @52 TNBC
L. Mast. 3/26/09, SN-, BRCA-,
4.5 cm (post surgical)T2NOMO
Chemo: 4/09-10/09 Taxol x 12,
A/C x 4, No rad.No recon. NED 1/17. New Primary right breast TN, 2/2018.
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Post Options Post Options   Thanks (0) Thanks(0)   Quote Grateful for today Quote  Post ReplyReply Direct Link To This Post Posted: Apr 16 2013 at 12:06am
FYI:


4/15/13 Viewpoints: Editorial Boards Offer Advice To Supreme Court On Gene Patents
http://www.kaiserhealthnews.org/Daily-Reports/2013/April/15/mon-opeds.aspx
4/16/13 High Court Skeptical That Biotech Firm Can Patent Human Genes
http://www.kaiserhealthnews.org/Daily-Reports/2013/April/16/supreme-court-gene-patents.aspx?utm_source=khn&utm_medium=internal&utm_campaign=widget

Justices Consider Whether Patents on Genes Are Valid
http://www.nytimes.com/2013/04/15/business/as-court-considers-gene-patents-case-may-overlook-relevant-issues.html

4/15/2013     BRCA Gene Testing.
Today's the Day: Challenging Human Gene Patents Before the Supreme Court.
Case: Association for Molecular Pathology v. Myriad Genetics
http://www.aclu.org/blog/womens-rights-free-speech-technology-and-liberty/todays-day-challenging-human-gene-patents

Supreme Court considers gene patents; scientists react
http://www.latimes.com/news/science/sciencenow/la-sci-sn-myriad-supreme-court-scientists-react-20130415,0,7266970.story
This article states: "The Supreme Court is expected to issue its ruling on the Myriad Genetics case before its term ends in June."

If anyone has a better article on the matter of the Supreme Court hearing the Case of:
Association for Molecular Pathology v. Myriad Genetics, please post.



Grateful for today.......Judy

Edited by Grateful for today - Apr 16 2013 at 11:40am
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Post Options Post Options   Thanks (0) Thanks(0)   Quote Grateful for today Quote  Post ReplyReply Direct Link To This Post Posted: Jun 03 2013 at 9:25pm

FYI: Thread on BRCA1 and BRCA2 variants
        http://forum.tnbcfoundation.org/topic11231_post114300.html#114300


RE: The Supreme Court hearing the Case of: Association for Molecular Pathology v. Myriad Genetics
       with ruling expected June 2013.
See above post and also other thread with info on that:
http://forum.tnbcfoundation.org/myriad-are-genes-patentable_topic8064.html


Grateful for today..............Judy
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Post Options Post Options   Thanks (0) Thanks(0)   Quote 123Donna Quote  Post ReplyReply Direct Link To This Post Posted: Sep 27 2016 at 10:36pm

First-ever $50 hereditary cancer test for families with a mutation

“BRCA testing began 20 years ago, yet it is estimated that under 20% of adults with that mutation are aware they are a carrier.”

Family is often the first thing people mention when they share their reasons for genetic testing. When a family member has a genetic mutation, there is a 50% chance that each of their first-degree relatives also has that same mutation. Yet even with a mutation in the family, genetic testing can be difficult for some people to access mainly due to high-costs and complicated processes acting as a barrier. For example, BRCA testing began 20 years ago, yet it is estimated that under 20% of adults with that mutation are aware they are a carrier.

To address this gap, Color, the BRCA Foundation and private donors are collaborating to offer genetic testing to parents, siblings, and adult children of people with mutations for a cost similar to filling a tank of gas at just $50, rather than the normal $249 price. Called the Color Family Testing Program, it is available to first-degree relatives of people who have tested positive for a mutation on any of the 30 genes analyzed on Color’s panel. They simply submit their report, or the report of a family member, to request the discounted testing. Color accepts reports of a deceased loved one’s mutation and also reports that came from other clinical labs. The program is being funded through generous donations from private donors and the BRCA Foundation.

The benefits of genetic testing go beyond basic risk assessment. Knowing about a mutation gives people important information they can use to create personalized screening plans with their healthcare providers, which can aid in early detection, treatment and prevention. Confirming that a person has not inherited a family mutation is just as important to know, as it means that his or her children will not inherit that mutation either. It also gives healthcare providers additional details to use when personalizing their care.

In parallel with the Color program, the BRCA Foundation is also launching the BRCA Registry. The registry will serve as a resource to researchers working toward the cure and prevention of cancers caused by the BRCA mutations. By joining the registry, people with a BRCA mutation are selecting to be contacted about any upcoming opportunities to participate in relevant research studies. The BRCA Registry is funded by the BRCA Foundation.

Our goals, along with those of the BRCA Foundation and generous private donors, are to improve access to genetic testing for everyone — individuals, families, healthcare providers, and researchers. The new Family Testing program will help more family members access their genetic information and the registry will connect researchers with a wide-range of participants in order to advance society’s collective understanding of cancer.

http://blog.getcolor.com/first-ever-50-hereditary-cancer-test-for-families-with-a-mutation-ba04a6be3052#.zdkpax83o



Edited by 123Donna - Sep 27 2016 at 10:37pm
DX IDC TNBC 6/09 age 49, Stage 1,Grade 3, 1.5cm,0/5Nodes,KI-67 48%,BRCA-,6/09bi-mx, recon, T/C X4(9/09)
11/10 Recur IM node, Gem,Carb,Iniparib 12/10,MRI NED 2/11,IMRT Radsx40,CT NED11/13,MRI NED3/15

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Post Options Post Options   Thanks (0) Thanks(0)   Quote SagePatientAdvocates Quote  Post ReplyReply Direct Link To This Post Posted: Sep 27 2016 at 11:23pm
Dear Donna,

This is wonderful news. Thank you so much for posting this!!!!!!!!!

I have heard from several Certified Genetic Counselors, I respect, that getcolor is doing a really good job.

warmly,

Steve

Edited by SagePatientAdvocates - Sep 27 2016 at 11:23pm
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 Ssam Quote  Post ReplyReply Direct Link To This Post Posted: Sep 28 2016 at 5:52am
Hi Steve, I'm in the UK and things are different here on the NHS. I just had what they call 'Level 1' BRCA testing because I don't qualify for the full screening as I do not have any family members who have had breast or ovarian cancer.  I tested negative for the Level 1, which is obviously good news but it was disappointing to discover they had not run the full screening and they said I still cannot describe myself as BRCA negative.  It would just be good if all the medics either side of the pond could agree on full tests for all Triple Negative ladies.
Dx Dec 2015. Stage 1 Grade 2.
6mm tumour. No lymph nodes involved. No chemo. 20 rads. Age 50.
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Post Options Post Options   Thanks (1) Thanks(1)   Quote SagePatientAdvocates Quote  Post ReplyReply Direct Link To This Post Posted: Sep 28 2016 at 12:22pm
Dear Ssam,

I have helped, as a patient advocate, a number of women in the UK. I know some of the challenges of NHS.

I have a suggestion and that would be to contact Prof. Ros Eeles at Royal Marsden. She is one of the leading experts in the UK regarding the BRCA mutation and others that my be deleterious. In addition, I have found her to be a dedicated, caring professional.

http://www.icr.ac.uk/our-research/researchers-and-teams/professor-rosalind-eeles/professional-activities

If you are interested please send me a PM and we can exchange contact info. I would be happy to call you and then make an introduction to Prof. Eeles if you wish.

And please know there are never any charges.

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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