Important TNBC study-King Lab

Bumping this up again.

Dx 4/29/11, 46 yrs old, 3.9 cm tumor, Stg 2 Grade 3 chemo 4 rounds DD AC, 12 weekly taxol, finish. Lumpectomy, 2mm residual tumor. 37 rounds rads completed. Cisplatin/PARP trial

So frustrated. I called my insurance company to inquire about having genetic testing done so i can participate in this study but i have to pay 15% of the cost which is 400 to 600 dollars. problem with that is my husband only gets to work maybe 5 days per month and we don't have the money to afford this. So defeated feeling.

Dx 04/07 @ 27
Stage 3B Grade 3 TN 5.6cm node+

4 DD AC chemo

Mod Radical Mastectomy

2 Taxol

6 Taxotere

31 days rads w. burns

S-GAP bilat recon 02/08

2 children after cancer

do you mean that because you need the myriad brca testing done first before you can do the king lab? contact the king lab by email and see if they will make an exception for you. also, check to see whether myriad has a reduced cost program that may cover your copay.

there are state funded programs that might be able to assist with this, as well as private programs. with tnbc, you need this test.

is it possible that you have a second first degree relative that has had bc? with two first degree relatives, some insurance programs have to cover the brca test.

don't give up yet....there may be a way to fly this in.

Dx 3/09 stg1 BRCA neg, 1.4cm IDC + 7mm DCIS, ki67 70 -90%, lump w/re-ex for margin, no chemo/no rads due to delays from secondary health issues; SonoCine every 6 months plus CAM interventions

Bumping this up again.

Dx 4/29/11, 46 yrs old, 3.9 cm tumor, Stg 2 Grade 3 chemo 4 rounds DD AC, 12 weekly taxol, finish. Lumpectomy, 2mm residual tumor. 37 rounds rads completed. Cisplatin/PARP trial

Donna,

I sent mine on March 21st and had results back in late June/early July. I think they might have gotten slammed with participants, but certainly worth the follow-up.

Deb

Dx 4/29/11, 46 yrs old, 3.9 cm tumor, Stg 2 Grade 3 chemo 4 rounds DD AC, 12 weekly taxol, finish. Lumpectomy, 2mm residual tumor. 37 rounds rads completed. Cisplatin/PARP trial

I sent Susan's blood sample on March 13th and we are also still awaiting the results. I believe that Steve said to expect a 6-8 month turnaround. I'll post Susan's results as soon as we get them. Thanks for reminding me about this, Donna.

Martin

Edited by TNinTN - Sep 10 2012 at 9:02am

Wife age 53@dx TN IDC Stage IIA 7/10; BRCA1&2 Neg; BROCA Neg; LN Neg; taxol+cisplatin+/-RAD001x12(clinical trial); lumpectomy 12/10;ACx4; 33 Rads complete 4/11; NED 5/5/11

Thanks everyone for sharing their experience. I received an email back today explaining that 6 to 8 months is the normal turnaround. They must batch the samples before they are put on the sequencer so they can get as many through at a time as possible so sometimes people get results back sooner if they are at the end of one of those batches, but otherwise it does take approximately 6-8 months to prepare the sample, run the test and validate the results. I'll let everyone know when I get my results, probably within the next couple months.

Donna

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

bumping this thread up for newbies.

steve wrote:

Dear all,

I believe the following King Lab study is an extremely important one for our community.

GENOMIC ANALYSIS OF INHERITED BREAST CANCER AMONG WOMEN DIAGNOSED

WITH TRIPLE-NEGATIVE DISEASE OR WITH DIAGNOSIS AT AGE 40 OR YOUNGER

Please see the information, that I received, this afternoon, in a two page letter from the King lab, along with their permission to publish it. Please see the complete letter, below, and be guided by the letter, not my words, please..

The research study being done by the Mary-Claire King Lab at the University of Washington is broad in scope. As you will see in the letter below almost any woman with TNBC who has been commercially tested for the BRCA mutation, in the U.S., can be enrolled in the study, if she wishes, no matter the results of the testing and no matter her family history. It seems that scientists are finding that in some BRCA+ women there are other breast cancer genes that are not tested for commercially.

Please read the letter carefully, in its entirety. It came through with different fonts when I cut and pasted it from my download, but it is complete. The first page ends with instructions to write to Dr. Bernier or Jessica Mandell. The second page starts with the word Protocol and ends with Dr. King’s info.

Unchanged from my original post is the fact that participation is free as the study is funded by our U.S. National Cancer Institute and private foundations. Also unchanged from my original post is that every woman will be told her individual results. Again, I find this policy of the King lab extremely important. Knowing if you have other gene mutations that cause breast cancer may turn out to be important information for you and family members.

Further information that I have is that anyone living anywhere is eligible to join the study as long as the criteria are met and the blood samples can be sent expeditiously.

n.b. I am adding this today March 20th. I just found out from a wonderful young man, overseas, that he was told that unless his wife’s blood is drawn and sent FedEx in the U.S. his wife can’t join the study. I confirmed what he was told, today. This is a consequence of holdups in U.S. customs since 9/11. Just want to make sure our overseas members are aware of this restriction and you have my apologies for the original misinformation. Totally unintentional but I feel especially bad about it. Again, sorry, my friend.

For people in other countries there is no requirement that your BRCA testing had to be done in the U.S. Specifically, dear sister Helen, if you had your BRCA testing done via Canadian Health Service you can join the study as long as blood is drawn and sent from U.S.. Anyone who has a VUS result is also eligible to join as the criteria is that you have been BRCA tested, not what your results are.

Summing up, any woman who was diagnosed (at any age and with or without family history) with TNBC and tested BRCA positive or BRCA negative, by commercial tests in this country (if in the U.S.), is eligible for the study. Also, any woman under the age of 40, with any type of invasive breast cancer is eligible for the study, as long as they tested BRCA+ or BRCA-. Anyone who was tested in other countries can join the study if they meet the criteria, but there blood draw for the study must be done in the U.S. Again, please do not rely on my words. Please look at the letter from the King Lab below.

The other new information, from my original post is that there is an estimated six months before test results are available.

I would encourage all here to discuss this study with your medical team and Certified Genetic Counselor.

Please do not rely on any of my words rather be guided by the two page letter and also information you may receive after writing to Dr. Greta Bernier or Jessica Mandell. Please confirm anything I have written above with them. It is also my understanding that one of the criteria is that for a woman with TNBC to be considered for the study it must be determined by Dr. Bernier, via your pathology report that the cancer was invasive which is overwhelmingly the case with most TNBC. That is why I wrote "almost any woman” above.

If anyone is interested in this study, please write to Dr. Bernier at the email shown below gretar@uw.edu

For those of you who have written to her already at the other email address I showed in the other thread I would suggest writing to her again if you haven’t heard from her within a week.

It is not a requirement to do so but I think it would be helpful if you mention that you read the letter from the King lab on the TNBC website.

warmly,

Steve

p.s. I consider Dr. King to be one of the country’s leading experts on breast cancer. She is the one who first identified and named the BRCA1 mutation in 1994. She and her marvelous lab continue to try to unravel some of the mysteries and I hope this study will do much to advance the science. Her mission is unchanged and pure-to help women with breast cancer. Yes, she has other interests, scientifically, but breast and ovarian cancer remain her main focus.

She is absolutely one of the most extraordinary women I have ever met and I am honored that she is in my life.

warmly,

Steve

University of Washington

SCHOOL OF MEDICINE

________________

GENOMIC ANALYSIS OF INHERITED BREAST CANCER AMONG WOMEN DIAGNOSED

WITH TRIPLE-NEGATIVE DISEASE OR WITH DIAGNOSIS AT AGE 40 OR YOUNGER

Dear Colleagues and Friends:

We are expanding our research studies of inherited predisposition to breast cancer. For more

than 35 years, we have studied breast cancer in families severely affected with the disease. We

are now able to extend these studies to include two additional groups of women: women

diagnosed with breast cancer at age 40 or younger, regardless of family history, and women

diagnosed with triple negative (i.e. ER negative, PR negative, and HER2 negative) breast

cancer, also regardless of family history.

The reason for expanding our study is that patients with triple negative breast cancer or with

very young age at diagnosis are more likely to carry inherited mutations in BRCA1, BRCA2, or

any of the other known breast cancer genes. With current genomics technology, we can fully

screen all these genes efficiently.

Our study includes complete screening of all known breast cancer genes, including BRCA1 and

BRCA2 and approximately 20 other genes. We use genomics tools developed in our lab for this

purpose. Our tools detect all classes of mutations in these genes, including genomic

rearrangements of all sizes. The study is a research project, sponsored by the U.S. National

Cancer Institute and by private foundations, so there is no charge to participants. Each

participant receives her results, and with her permission, her results are also sent to her

physician and genetic counselor. Our study is intended for women who have already been

screened commercially for BRCA1 and BRCA2.

Eligibility

Criteria for the study are as follows:

• Invasive breast cancer diagnosed at age 40 or younger, regardless of family history, OR

triple negative invasive breast cancer diagnosed at any age, regardless of family history

AND

• If in the U.S., prior commercial testing for BRCA1 and BRCA2, regardless of results of

that testing.

Referral

Potential participants may refer themselves, by writing to Dr Greta Bernier at gretar@uw.edu to

express interest. Alternatively, physicians or genetic counselors may refer potential participants

by writing to Dr Bernier or to Jessica Mandell, MS, CGC, at jmandell@slc.edu

Department of Medicine and Department of Genome Sciences

University of Washington, Seattle WA 98195-7720

Protocol

Potential participants are asked to write to Dr. Bernier expressing interest. She will answer by email, asking for faxed copies of pathology reports and of prior results of BRCA1 and BRCA2 testing

After confirming eligibility, Dr. Bernier will send study details, the consent form approved

by our IRB for the project, and a questionnaire regarding breast cancer risk factors and family history.
Shortly thereafter, our genetic counselor Jessica Mandell will contact the eligible participant by phone to review the study and obtain consent.
Ms Mandell will also send the participant a kit for obtaining a blood sample from which

we will extract DNA and RNA. The kit will include a

prepaid FedEx return label with our address. We will ask participants to include the

questionnaire and other paperwork in the kit when returning it to us.

No travel is necessary for participation.

Results and privacy

Our lab is CLIA approved to provide genetic testing results. Testing will require approximately 6 months from the time we receive a blood sample.

If we find no abnormality in any of the known breast cancer genes, we will send a letter with that information to the the participation.

If we find an abnormality in one or more of the genes, Jessica Mandell will contact the participant by phone.

She will discuss the results and explain what is known about the abnormal gene.

We do not provide medical advice, but with a participant’s permission we will provide results to the participant’s physicians and genetic counselor.

We keep results completely confidential,

providing them to anyone else only with the participant’s explicit consent.

Thank you for your interest in our study. Please accept our very best wishes.

Sincerely,

Greta V Bernier, MD

Resident Physician, Department of Surgery

Research Fellow, Division of Medical Genetics

gretar@uw.edu

Jessica B Mandell, MS, CGC

Certified Genetic Counselor and Research Coordinator

jmandell@slc.edu

Mary-Claire King, PhD

American Cancer Society Professor

Department of Medicine and Department of Genome Sciences

mcking@uw.edu

School of Medicine

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

Dear Eglass,

for sure they are doing it and I believe will be for years.

Hopefully your email will be responded to fairly quickly.

Problem is that some women can expect a 6-8 month wait for results..please be patient.

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

Just received Susan's results in the mail today. No mutations identified.

Martin

Wife age 53@dx TN IDC Stage IIA 7/10; BRCA1&2 Neg; BROCA Neg; LN Neg; taxol+cisplatin+/-RAD001x12(clinical trial); lumpectomy 12/10;ACx4; 33 Rads complete 4/11; NED 5/5/11