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Topic: Share your story of Genetic Testing

Forum: Genetic Testing —

ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, NBN, NF1, PALB2, PTEN, RAD51C, RAD51D, STK11, TP53, and mismatch repair genes (MLH1, MSH2, MSH6, PMS2, EPCAM)

Posted on: Sep 22, 2015 02:16PM - edited Sep 23, 2015 11:15AM by Moderators

Moderators wrote:

Dear Members,

Would you be willing to share your story about genetic testing? (no pressure, only if you are inspired!)

We are interested in the following questions: What led you to doing the testing? What were your results, and what choices have you made based on the findings? Was payment an issue? How have you discussed these decisions with your family? What suggestions would you have for others?

Please share your story here, or send us a Private Message. We will be posting your stories here Community Members share their Stories, in order to inspire other visitors to our site who are in a similar situation. If you chose to submit your story, would you please send a photo with it?

Many, many thanks!

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Sep 23, 2015 10:08PM vlnrph wrote:

Would you consider renaming this forum to include more than just BRCA 1/2mutations? A few others have posted here anyway but, with the popularity of multiplex panel testing, many of us are finding that our cancers are associated with genes outside those "classic" examples...

IDC too! 🎻💊👪🐩 🇫🇮 🌹🦋 Rt MX+DIEP 4-2011; ALND 5-2011 d/t micromets; TC X 4; tamoxifen; lymphedema 9-2011; switch to letrozole 3-2014 for 1 yr; bone mets 8-2018: Zometa, rads to spine, Faslodex+Verzenio; 11-2018 vertebroplasty Dx 3/7/2011, ILC, 2cm, Stage IIA, Grade 2, 1/25 nodes, ER+/PR+, HER2-
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Sep 24, 2015 09:44PM vlnrph wrote:

Thanks for broadening the category (I appreciate the two decades of research/knowledge already behind us regarding BRCA 1/2 and hope some of the other mutations will be as well studied in the future!)

I decided to request testing despite minimal family history because of the presence of two tumors with different pathology at diagnosis. The genetic counselor at our cancer center agreed and chose a lab that would cover a unique situation within the Scandinavian population. Some companies fail to include this particular factor on their panels which is why I believe it is so important to receive advice from a specialist in the field who keeps up to date, not just letting your primary care provider send in a sample or ordering a kit that you pay for out of pocket.

Sorry I don't have a photo to submit but just imagine a blue eyed blonde...

IDC too! 🎻💊👪🐩 🇫🇮 🌹🦋 Rt MX+DIEP 4-2011; ALND 5-2011 d/t micromets; TC X 4; tamoxifen; lymphedema 9-2011; switch to letrozole 3-2014 for 1 yr; bone mets 8-2018: Zometa, rads to spine, Faslodex+Verzenio; 11-2018 vertebroplasty Dx 3/7/2011, ILC, 2cm, Stage IIA, Grade 2, 1/25 nodes, ER+/PR+, HER2-
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Sep 24, 2015 10:44PM - edited Sep 24, 2015 10:51PM by suemed8749

That's very interesting, vlnrph. My Danish grandparents had 4 sons and 3 daughters. All of the sons' daughters (5 of us) have been dx with breast cancer; one died from the disease. I was dx in 2008 and based on family history and my multifocal disease, I was tested for BRCA 1&2; negative results. Blue Cross didn't want to pay for it, but my wonderful onc's PA kept adding up the risk factors until they caved. I'm glad I was tested for my daughters' sake, but I have no idea if I was tested for the "unique situation within the Scandinavian population". Did you know that we of Scandinavian descent are also more prone to developing Type 1 diabetes? Maybe blondes don't always have more fun!

Dx 1/15/2008, IDC, 2cm, Stage IIA, Grade 3, 0/3 nodes, ER-/PR-, HER2+
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Oct 9, 2015 06:41PM - edited Oct 9, 2015 06:45PM by TectonicShift

This Post was deleted by TectonicShift.
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Oct 9, 2015 06:52PM scrunchthecat wrote:

vlnrph - Would you mind sharing the details of the test for the "unique situation within the Scandinavian population"? My father's family is 100% Finnish.


Dx 5/15/2015, IDC, Right, 6cm+, Stage IV, metastasized to liver, ER-/PR-, HER2+ (IHC) Chemotherapy 6/6/2015 Taxotere (docetaxel) Targeted Therapy 10/18/2015 Herceptin (trastuzumab) Targeted Therapy 10/19/2015 Perjeta (pertuzumab)
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Oct 11, 2015 08:51PM vlnrph wrote:

Hi scrunch, or should I say "kiitos"? I'm sending you a private message regarding RAD 50 mutations.

IDC too! 🎻💊👪🐩 🇫🇮 🌹🦋 Rt MX+DIEP 4-2011; ALND 5-2011 d/t micromets; TC X 4; tamoxifen; lymphedema 9-2011; switch to letrozole 3-2014 for 1 yr; bone mets 8-2018: Zometa, rads to spine, Faslodex+Verzenio; 11-2018 vertebroplasty Dx 3/7/2011, ILC, 2cm, Stage IIA, Grade 2, 1/25 nodes, ER+/PR+, HER2-
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Oct 15, 2015 02:01AM Magstermom3 wrote:

Im getting tested from the brca1 gene....I find out Nov 12th if I'm positive or mother had BC twice and her sister had BC and tested positive brca1.. I'm young and healthy and have 3kids...I'm nervous and its keeps getting worse as the days go by..

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Oct 15, 2015 02:59AM exbrnxgrl wrote:

From the minute I found out I had bc, BRCA testing was on the table. Being of Ashkenazi Jewish heritage moved me to the front of the line. Additionally, my paternal grandmother had died of bc, and I had recently lost my younger sister to uterine cancer.

My HMO arranged for me to see a genetics counselor, asked that I take an online course and test on the BRCA mutations as well as doing a very thorough family health history. The health history involved a call to my parents and turned out to be a rather long, and somewhat comical conversation. They spent a long time arguing over what each and every relative died from and when they had died ( "No, she didn't die in 1963. She died the year our car caught on fire on the way back from the Catskills.")

In the end, I was negative. This mattered little to me, but I have two adult daughters and the implications for their future health concerned me. I hope that research continues to look at genetic mutations as I feel there may be more than we currently know.

Bilateral mx 9/7/11 with one step ns reconstruction. As of 11/21/11, 2cm met to upper left femur Dx 7/8/2011, IDC, Left, 4cm, Grade 1, 1/15 nodes, mets, ER+/PR+, HER2- Surgery 9/7/2011 Lymph node removal: Left; Mastectomy: Left, Right; Reconstruction (left); Reconstruction (right) Dx 11/2011, IDC, Left, 4cm, Stage IV, Grade 1, 1/15 nodes, mets, ER+/PR+, HER2- Hormonal Therapy 11/21/2011 Arimidex (anastrozole) Radiation Therapy 11/21/2011 Bone Hormonal Therapy 6/19/2014 Femara (letrozole) Hormonal Therapy Aromasin (exemestane)
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Oct 15, 2015 10:49AM - edited Oct 15, 2015 10:53AM by Moderators

Magstermom3, please keep us posted. We understand how nerve-wracking it is. Here is our section on genetic testing, in case you want to take a look:

exbrnxgr, Thank you so much for sharing your story!

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Oct 15, 2015 05:25PM - edited Oct 15, 2015 05:26PM by Denise-G

My family is in the middle of genetic testing now. I was diagnosed with Stage 3 - ER+ PR+ Her2Pos four years ago at age 55. Never had been any breast cancer in either side of family for at least 100 to 150 years - we had pretty good records. So at that point, was not tested.

Then 1.5 years later, my 80 yr old mom was diagnosed with Stage 1 cancer - ER+ PR+ Her2Neg. Since I did not have children and mom was diagnosed at an advanced age, my Onc thought it was a "fluke" we both got cancer.

But then my sister-- only sibling - one year after my mom diagnosed also at age 55 - Stage 3 - ER+PR+ Her2Neg in April, 2015. No more flukes.

My sister was just tested and has the Chek2 1100 delc gene mutation. My mom is being tested this month so we can see what side of family. Then my sister's 31 year old daughter will be next. I will probably do it somewhere along the line, but not as concerned since I don't have children.

We go to the University of Michigan which has a large genetic testing center. They told us they are seeing a lot of Chek2... my BC Blog with over 200 informative posts about all aspects of BC - stop by! Myself, my mom, and sister were all diagnosed with BC within 3 years. What a ride! Dx 10/10/2011, IDC, Left, 6cm+, Stage IIIA, Grade 2, 9/14 nodes, ER+/PR+, HER2+ (FISH) Surgery 11/23/2011 Lymph node removal: Left, Underarm/Axillary; Mastectomy: Left Chemotherapy 12/27/2011 AC + T (Taxol) Targeted Therapy 2/28/2012 Herceptin (trastuzumab) Hormonal Therapy 10/11/2012 Arimidex (anastrozole)
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Oct 23, 2015 02:42PM - edited Nov 3, 2015 09:55AM by Queen_Celeste

[Posted earlier this week but it has disappeared.]

I was diagnosed with breast cancer in February 2015 (age 60) and underwent genetic testing then at the request of my surgeon.  Neither she nor her nurse explained anything about it or asked me any questions.  It was only after reading up on it that I learned that being Ashkenazi was a risk factor.  No doctor, nurse, or mammogram technician had ever suggested or even mentioned genetic testing to me.  I don’t think that any of them knew what “Ashkenazi” is.  That’s what I get for living in Kansas!

My mother had breast cancer, but there is no other breast or ovarian cancer in my family that I know of.  I know almost nothing about the medical history on my father’s side.  My paternal grandmother died at age 31, and some great-aunts and cousins around age 60.  My sister wants to be tested and is appealing the insurance/Medicare denial of coverage.  (They don’t know with whom they are dealing – they should just give up!)  I don’t think my brother has been tested, and neither have my first, second, or third cousins that I know of.  I have given them all the information I have.  You can lead a horse to water ....

I was tested only for the 3 Ashkenazi founder mutations and am BRCA1 positive.  Insurance covered the testing and my copay was $75.  I had a bilateral mastectomy in April, chemotherapy May-September, and exchange surgery in October.  I will be undergoing a prophylactic salpingo-oophorectomy-hysterectomy (fallopian tubes/ovaries/uterus) on November 17.


Dx 2/23/2015, IDC, Right, Stage IIA, 0/2 nodes, ER+/PR- Surgery 4/16/2015 Lymph node removal: Sentinel; Mastectomy: Left, Right; Reconstruction (left): Tissue expander placement; Reconstruction (right): Tissue expander placement Chemotherapy 5/22/2015 Cytoxan (cyclophosphamide), Taxotere (docetaxel)
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Oct 23, 2015 02:52PM lkc wrote:

I am very interested in genetic testing. My mother, my mothers only sister, and my mothers mothers, and me were all dxed with bc.

I was advised that we definitely carry a genetic mutation, different from brcca.

I am confused about which genetic profile , I should request. Anyone have any insight on this?


Linda K dx'd May 05 Stage IIIC erpr-, her pos, 12 pos nodes
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Nov 24, 2015 02:40PM Moderators wrote:

Thanks all for your stories so far!

We'd love to hear some more -- Please send in your stories!

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Nov 24, 2015 04:11PM Hopeful82014 wrote:

Linda, you should definitely speak with a genetic counselor and be sure to vigorously discuss an extended panel (one that tests beyond the BRCA mutations).

My genetic counselor was very reluctant to do anything but the BRCA testing but it was in the extended panel that my mutations (including PALB2) were found. I'm glad my surgeon really pushed the counselor to recommend more than the BRCAs. Good luck to you and your family.

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Nov 28, 2015 10:05AM lkc wrote:

thank you Hopeful. I am having my check up next week and will speak to my onc about ordering this and getting hooked up with a genetic counselor.

Linda K dx'd May 05 Stage IIIC erpr-, her pos, 12 pos nodes
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Nov 28, 2015 08:24PM Maureen1 wrote:

I had genetic testing done because I wanted to know if there were any mutations that placed my daughters at greater risk for breast or ovarian cancer. My mother died of metastatic BC and my maternal aunt died of ovarian cancer so I was worried about what I might pass on to my daughters. Just after diagnosis I did the BRAC1 and BRAC2 and BARD tests from Myriad labs. It was very expensive and the copays were about $700. I didn't have any of the 3 mutations. This year on BCO I learned of the genetic testing available thru the "COLOR" website. They tested for 19 genetic mutations thru a very easy to do saliva sputum sample that I could collect and mail in myself. I decided to do it because I wanted to see if I had any of those mutations for prostate, colon, etc. that I might pass on to not only my daughters but also my son. I did it during October when there was a special for breast cancer awareness so they reduced the fee from $249 to $199 - a lot less than just the copays were for Myriad labs. They were great to work with and offered a lot of communication, information, and genetic counseling. Fortunately I didn't have any of the 19 genetic mutations.

Dx 7/31/2012, IDC, Left, 1cm, Stage IIA, Grade 2, 3/11 nodes, ER+/PR+, HER2- Surgery 8/6/2012 Lumpectomy: Left; Lymph node removal: Left, Underarm/Axillary Chemotherapy 9/19/2012 AC + T (Taxol) Surgery 3/4/2013 Prophylactic mastectomy: Left, Right; Reconstruction (left); Reconstruction (right) Hormonal Therapy 3/19/2013 Aromasin (exemestane) Hormonal Therapy 7/22/2013 Tamoxifen pills (Nolvadex, Apo-Tamox, Tamofen, Tamone) Surgery 11/23/2013 Reconstruction (left): Silicone implant
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Nov 29, 2015 06:53PM lkc wrote:

hi Maureen. I can 'to seem to locate the "colors" website address.

Could you share it please?


Linda K dx'd May 05 Stage IIIC erpr-, her pos, 12 pos nodes
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Nov 29, 2015 09:08PM Denise-G wrote:

Maureen - thanks for this valuable info so I can pass it on to others who want to be tested

but don't have the funds or are without insurance.   

Is it     That looked like the one!   THANK YOU! my BC Blog with over 200 informative posts about all aspects of BC - stop by! Myself, my mom, and sister were all diagnosed with BC within 3 years. What a ride! Dx 10/10/2011, IDC, Left, 6cm+, Stage IIIA, Grade 2, 9/14 nodes, ER+/PR+, HER2+ (FISH) Surgery 11/23/2011 Lymph node removal: Left, Underarm/Axillary; Mastectomy: Left Chemotherapy 12/27/2011 AC + T (Taxol) Targeted Therapy 2/28/2012 Herceptin (trastuzumab) Hormonal Therapy 10/11/2012 Arimidex (anastrozole)
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Nov 30, 2015 03:12PM Hopeful82014 wrote:

Yes, that's the one, Denise.

I know there are numerous women on this board who have worked with them and have been very satisfied with their experience. I've referred some of my family to them as well.

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Nov 30, 2015 03:33PM julieho wrote:

Thank you for doing this. I think genetics will become more and more important in terms of treatment and prevention the more we share and understand about them.

I have a strong maternal family history of cancers, primarily breast but also lung, bladder, colon and prostate. I have been screened heavily since I was about 37. My Mom died at 65. She had two separate kinds of breast cancer, lung, bladder and finally sarcoma.

I had the BRCA testing done when I was 52. I came back negative and four months later was diagnosed with IDC grade 3 agressive cancer and had to undergo bilateral mastectomy and chemo.

I met again with the genetic couselor after chemo and we did I believe a 40 gene screening. I came back as having an NBN gene mutation. Which runs primarily in people of Eastern European descent. I knew my maternal great grand father was German but did not realize likely eastern German. At that time we tested my deceased maternal Aunt's DNA, she had stored some prior to dying of cancer at 77. She also tested positive for NBN.

At that point the genetic counselor felt this likely contributed to our strong maternal family history of cancers. My sister and a maternal cousin went on to be tested. Both had the mutation and both have since done preventative bi-lateral mastectomies. Not as much is known about NBN but piecing together our family history and the agressive nature of my cancer even though detected early they both chose to have mastectomies. My sister found after removing her breast that she had some DCIS in her breast. So her decision was a good one. My cousins biopsy showed no cancer but she is still relieved to have taken that step. My other maternal cousin died at 55 of colon cancer and another maternal cousin died of breast cancer at 26. My cousin who died of colon cancer died without knowing about this gene mutation. But, her two biological daughters did test themselves and were both negative. We don't know if the colon cancer, both my cousin who died and her brother at age 56 got colon cancer, is related to this mutation or not.

What is somewhat frustrating is how little any genetic group seems to be about our mutation and the high rate of cancers. They just said that right now they don't really know what it means and that my children (who are all adults) should likely be screened when they are 35 years old.

I don't regret screening, I think it may have saved my sister from having invasive cancer and chemo treatment, but I wish that there were genetic counselor's who want to keep in contact with our family and it's history as it could teach us more about the risk this mutation provides.

Take care,


Dx 6/1/2012, IDC, 1cm, Stage I, Grade 3, 0/4 nodes, ER-/PR-, HER2+ Targeted Therapy 9/13/2012 Herceptin (trastuzumab) Chemotherapy 9/13/2012 Carboplatin (Paraplatin), Taxotere (docetaxel)
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Dec 26, 2015 01:47AM - edited Dec 26, 2015 01:50AM by TeriDavisNewman

My baby sister died November 18th 2015. She had breast, ovarian, and uterine cancers that were ALL primary cancers. Her breast cancer was triple negative and the first cancer discovered. (She woke up from the mastectomy to be told she had stage 3 ovarian cancer and when she went for that surgery, she woke up to be told she also had uterine cancer.) When she called to tell me, I told her that our paternal grandmother had died of breast cancer in Feb 1960, 2 months before she was born. She had been unaware of that, but told her doctors. What she didn't know until later was that our grandmother was also of Ashkenazi Jewish descent and was BRCA1 positive--HAD TO BE as my sister was BRCA1 positive resulting in my dad, my brother and myself going for the testing as well. My brother does not carry the genetic defect, but my dad is BRCA1+ and unfortunately so am I and I am being pressured to have a hysterectomy and a double mastectomy and reconstruction even though I have no cancer I am aware of and my last PAP and mammo were clean and I've never had an abnormal result. I believe with all my heart that her ovarian cancer was caused by the fact that she took the fertility drug Clomid for MORE THAN 3 YEARS, and at 57, I'm not particularly inclined to undergo all this surgery. My dad is 85 and has never had any kind of cancer, he's an eye doctor and is STILL SEEING PATIENTS, God love him, and he's as good as he ever was. I've never had any cancer other than a tiny basal cell carcinoma on my lip that I killed off with fluorouracil that has never returned--and I'm a freckled redhead that grew up in South Florida so being in the sun did that for sure! My husband is frantic with worry that I have cancer that has not been detected yet and is terrified I will die--and while I don't want to go through what I watched my sister endure, I don't see any reason to panic. My doctor's worry and insistence that I am at such a high risk I must have this surgery is the tipping point. For 15 months I watched my sister fight like a tiger but she never had a chance--it was too advanced and with her being BRCA1+ nothing helped her--not chemo, not surgery, not radiation. The greedy bloodsucking doctors sold her false hope and NONE of them thought to stick a needle in her arm to test for the gene defect until nothing they did stopped the cancer spread. When they got the results, they told her that her cancer was incurable but treatable, which is doc-speak for "We can't help you and you're going to die, but we'd like to keep treating you with chemo at 50K a pop" and this was after billing her SEVEN HUNDRED THOUSAND DOLLARS before they tested her to find out it was all for nothing as the BRCA1 genetic defect prevented her body's immune system (on the cellular level) from gearing up to fight the cancer. Had the greedy bastards TESTED her for BRCA1 she would not have had to spend the last 15 month of her life being slashed, poisoned and burned (which was of no avail since her body couldn't fight the cancer because of the BRCA1) and could have spent her last months of life having fun--or ANYTHING but 5 surgeries, chemo that never ended and God only knows how much radiation. However, that would have kept them from billing her for 700 GRAND for NOTHING because they would have known it was futile. Needless to say, I'm bitter and angry about this and I am also very reluctant to enrich surgeons for removing healthy organs and breasts from ME just because my insurance will pay for it but my husband is so worried and upset that I might die like my poor doomed sister that I may have to do it just for HIS peace of mind. I don't think I am at major risk. I don't smoke and consume less than 1 cocktail a week. I get regular screenings but it is my understanding that if I do NOT have this surgery and develop cancer, it will kill me because my body can't fight it off because of the BRCA1 genetic defect I carry. I'm grateful I have no children to pass it on to but my sister had 3 who will need to be tested and if her oldest boy is BRCA1 then his children will need to be tested as well. If She had not been tested, I would never have been either and I would not know that I am BRCA1+ but my husband is determined I should have these surgeries a la Angelina Jolie. What's my REAL risk? Do I really NEED to have these surgeries?

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Dec 26, 2015 10:11AM Moderators wrote:

Hi TeriDavisNewman,

Thank you for sharing your very painful story about you sister and your family. We are very sorry for your loss, and for all the decisions you now need to make. We understand that you are very bitter about what your sister endured. Even though she was BRCA positive, and developed cancer, the doctors may have felt that they had a chance to extend her life with treatment. As you need to make decisions, you may find this article of ours helpful: What to Do if Your Genetic Test Results Are Positive

We are thinking of you, and hope that we can help you make the best decision for you as possible.


The Mods

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Dec 28, 2015 02:58PM Queen_Celeste wrote:

TeriDavisNewman:  So sorry to hear about your sister.  As you know, being BRCA positive puts you at a much higher risk than the general population for breast and ovarian cancer.  But it has no connection to the effectiveness of surgery, chemotherapy, and radiation for those of us diagnosed with cancer.  My oncologist said that my treatment plan was not affected by my being BRCA1+.  Please talk to your doctor and let me know if you want any reading material.

Dx 2/23/2015, IDC, Right, Stage IIA, 0/2 nodes, ER+/PR- Surgery 4/16/2015 Lymph node removal: Sentinel; Mastectomy: Left, Right; Reconstruction (left): Tissue expander placement; Reconstruction (right): Tissue expander placement Chemotherapy 5/22/2015 Cytoxan (cyclophosphamide), Taxotere (docetaxel)
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Dec 31, 2015 09:00AM Mominator wrote:

What led you to doing the testing?

My mother was diagnosed with DCIS at age 62. At age 79, she was diagnosed with ILC, Stage III. I was shocked she got breast cancer again. But she said, "well I am BRCA2 positive." That was the first time she told me!

I had always known my grandmother died of ovarian cancer at age 48. I then learned that BRCA2 is linked to increased breast and ovarian cancers. Since there was a lot of cancer between my mother and my grandmother, I wanted to know if cancer was stalking me as well.

What were your results?

I tested positive for the BRCA2 mutation. I also have a Variation of Unknown Significance on STK11.

What choices have you made based on the findings?

I was told my risk for ovarian cancer is 40 to 44% and my risk for breast cancer is 60 to 87%. I didn't want to wait for cancer to get me. Since I am past my child-bearing years, I had prophylactic bilateral salpingo-oopherectomy (BSO) and prophylactic bilateral mastectomy with reconstruction. If I had learned this when my mother got her BRCA results 18 years ago, I would have had increased surveillance and possibly chemo-prevention at that time.

My surgery was November, 2015. I got my pathology report. Everything removed was benign. However, there were many areas of hyperplasia in both my breasts. I feel that I had surgery before my breasts had a chance to turn cancerous.

Was payment an issue?

I was told that my insurance covers the testing and the surgery. We shall see.

How have you discussed these decisions with your family?

I have discussed this with my spouse, my siblings, my parents, and my uncle.

I was surprised that my mother didn't discuss her results with me. I live 300 miles away from my mother and maybe that is why she forgot to tell me. Maybe she forgot to tell me because her doctors didn't do anything about her BRCA2 positive status. Mom was not offered increased surveillance, chemo-prevention, or surgery. Maybe the mastectomy would have been too much for her, but certainly she could have benefited from increased surveillance and chemo-prevention, and possibly even the BSO.

At her age and health, my mother's doctors are not so much trying to cure her cancer, but keeping it in check. It really makes me sad and angry that her second cancer could have been prevented or at least caught much sooner.

My mother feels particularly bad that she "gave" this to me. My sister tested and is negative. My brother with children refuses to be tested, while my brother without children is being tested due to concerns about all the associated cancers (prostrate, male breast, melanoma, and pancreatic).

I have not yet discussed this with my children who are minors each with their own special needs.

What suggestions would you have for others?

Ask, ask, ask! Ask for genetic counseling and ask if genetic testing is needed. If you are positive, ask for treatment recommendations. Being positive for a genetic mutation is not a death sentence but an opportunity.

You have options: increased surveillance, chemo-prevention, and surgery. You can be pro-active and beat cancer before it even starts. Educate yourself and keep asking questions!

I have had friends who have gotten breast cancer seemingly out of the blue. They didn't find their cancer until it was already stage III. You can be pro-active and beat cancer before it has a chance.


BRCA2+, wife, mom to 3 children of various special needs, musician, volunteer, 54 yrs young

Mominator, BRCA2+, STK-11 VUS. My Mom dx DCIS age 62, ILC stage IIIA age 79; Mom passed 2/28/18. My Grandmother died of ovarian cancer age 48. Friend to Lori M, passed 5/25/16. Surgery 11/10/2015 Prophylactic mastectomy: Left, Right; Prophylactic ovary removal; Reconstruction (left): Tissue expander placement; Reconstruction (right): Tissue expander placement Surgery 1/18/2016 Reconstruction (left): Silicone implant; Reconstruction (right): Silicone implant Surgery 6/29/2017 Reconstruction (left): Silicone implant
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Dec 31, 2015 11:17AM jkbrca2 wrote:

What led you to doing the testing?

My mother had 2 separate instances of breast cancer, first on the right at age 58, and later at age 62 on the left. Her mother had DCIS in her early 70s, and my grandmother's mother died of breast cancer (and possibly ovarian cancer too) in her 50s. Both my mother and grandmother had hysterectomy's with removal of the ovaries, so we don't know if they'd have gotten ovarian cancer or not. After my mother's 2nd BC diagnosis, her oncologist suggested I test for the BRCA gene. But that was prior to the changes to health insurance, so I didn't. After that improved, and I had my son in 2011, we decided it would be good to know if this mutation was in our bloodline. My mother's second cousin had tested positive for a particular BRCA2 mutation and so my mother's insurance paid for her to test. We decided she would test first. If it came out negative, I would be clear. But it came out positive. So now I had a 50/50 chance of having the same mutation. I suspected I did.

What were your results, and what choices have you made based on the findings?

I met with a genetic counselor before I took the test to discuss important things like: what would I do with this information? Did I understand how knowing I was positive could make me anxious with all the annual testing that might follow? Did I want to take pro-active steps like surgery? Would I be happier with just surveillance? Would this change my child-bearing plans with my husband? How would he feel about knowing the results or not taking the test? I personally believe this is a really important and crucial pre-step to testing. Some people will take a test with their OBGYN or doctor and not meet with a genetic counselor first. What will you do with this information if it's not good news? Seek guidance with a counselor in tandem with the testing. If it's a negative test result, great! But if the news isn't so good, you want to know what to do next.

For me, I wanted to know so I could be pro-active and take as much control of the situation as possible. I discussed testing with my husband first. He agreed. I tested BRCA2+ in August 2011. We had one son prior to testing, and hope he did not get the mutation. My husband and I had decided one child was enough for us before I took the test for a number of reasons, but when it came out positive that sealed the deal! We're happily "one and done" with a wonderful child.

I chose to do surveillance of the breasts with annual MRIs and mammograms from 2011-2015 while I was age 35-39. Those 4 years were tense at times; I had a couple results that were suspicious and the core needle biopsy wasn't fun. I had the PMBX at age 39 (which is late) once I knew that was what I wanted and my son was old enough that he didn't need me to pick him up or carry him for a 4-week period while I healed. Thankfully no cancer in the pathology report.

I have chosen to do surveillance of the ovaries for now, too, from age 35 until who knows when. My oncologist would prefer I do that now, and not later so it's not too late. I'm thinking maybe when I'm 41 in 2017. For now, I have transvaginal ultrasounds and CA125 blood tests twice a year.

I also have annual skin exams for melanoma since I had a pre-melonoma in 2011 during my pregnancy. And I have colonoscopies when scheduled by my GI because of a large precancerous polyp in 2013. I was clear in 2014, so now am on the every 3 years schedule. Being BRCA+ is not just about breasts and ovaries. Mostly. But not completely.

Was payment an issue?

My health insurance paid 100% for the BRCA2 test because my mother had tested BRCA2+ Deleterious Mutation.

My health insurance covered the mammograms, MRIs, CA125 blood tests, and ultrasounds. I pay co-pays for office visit rates when I have these. The core needle biopsy was not a surgery but cost me $150 out of pocket for "out-patient surgery". I paid the hospital co-pay for my PMBX surgery, anesthesia, and pathology. (Tip: DO ASK if the anesthesiologist is covered by your health insurance! Just because they work at the hospital they might bill differently.)

The most expensive thing during the process to date, which was not covered by insurance, was my 1-hour consult with a plastic surgeon to discuss my reconstruction options = $399.

How have you discussed these decisions with your family?

Yes. I discussed every decision with my husband first, sought counsel from my mother, and moral support from my brothers.

When my son is an adult (maybe at 21 or 25, depending on if he's settling down early or not) we can discuss the issue and it will be his decision to test or not for himself. I have two older brothers with 9 children between them. Neither of them has tested yet, but I ask them to treat their bodies as though they might be BRCA2+ until they prove otherwise, and to not ignore any symptoms for cancers of the breast, colon, skin, or prostate. They say they may chose to test when their eldest daughters are old enough to hear the news, but that decision is personal, and choosing when or if to test is theirs alone. My oldest neiices and nephews know that I am BRCA2+ and that their grandmother is, too. My 4 year old son knows I had my PMBX surgery, but doesn't know why specifically, just "to make mommy healthier".

My mother's sisters and first cousins tested and they are all negative fortunately. So the mututation runs directly down my maternal blood-line from my great-grandmother, and runs directly down my great-grandmother's sister's bloodline to our distant cousins.

What suggestions would you have for others?

A couple of things to know before you test that I wish someone had told me:

(1) Obtain LIFE INSURANCE before you test. Your Health Insurance cannot be denied because of your diagnosis. However, your life insurance rate could be higher because of it, so obtain that before you test.

(2) Get counseling from a genetic counselor before you test, and after you test, if you test positive. They can help with information, making choices, how to discuss with family, etc.

(3) If you haven't checked it out, "breast reconstruction" and "breast augmentation" are not the same thing. They are different surgeries - apples and oranges - with different end results both in outcome, possible complications, and breast sensitivity. Know what you are getting into. When I tested in 2011, I thought it might later chose to have the preventative bilateral mastectomy and get a "brand new set of breasts", but after looking into the matter, I realized I had been naive about what to expect in that regard! My oncologist wanted me to pursue the PBMX right away, but was patient with me as I held off and tested with annual MRIs and 3D mammograms while I researched my options and while I actually became "comfortable" with the choice. After reviewing all the choices and meeting with surgeons for consultations, I actually opted not to reconstruct at all, and had a PMBX without reconstruction in July 2015. I have not regretted the decision to have the PBMX. Five months later, I am also still glad I opted for no reconstruction. I feel healthy and well-healed. I am also much less anxious since I no longer have to have annual testing of the breasts and I know I have reduced my chances of getting BC as much as I possibly could. That's empowering!

(4) Definitely research ALL your options for breast surgery and for oophorectomy/hysterectomy. If you test for a gene mutation before you're diagnosed with a cancer, the silver lining is that you are fortunate to have a bit more time to research and to make your decisions and you have all the choices open to you. If you have cancer, your decisions will likely be made for you. Cosmetic outcomes for surgery and reconstruction (if you chose to) are better if done proactively, instead of after diagnosis.

(5) I completely agree with Mominator above: A positive test result is by no means a death sentence. It allows you to know you need to take certain actions to take good care of yourself! My grandmother had a healthy long life into her late 80s and died of something unrelated to cancer. My mother is healthy and well into her 70s. I plan to live a long, healthy life too!

(6) "Live life relentlessly." Great advice from the O.R. nurse who cared for me post-op ;-)


I'm 39, wife to my wonderful and supportive husband of 7 years, mother to my 4-year old son, and a working mom, who likes to garden in the summer and read through home decorating magazines

August 2011 tested BRCA2+ Surgery 7/9/2015 Prophylactic mastectomy: Left, Right
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Feb 10, 2016 10:52PM - edited Feb 10, 2016 10:54PM by Previvor

My OB/GYN has recommended that I test for the BRCA mutation for several years but I always put it on the back burner claiming it would affect my insurance or not be covered, etc. The truth is I'm 45 and my mother and sister both had BC in their mid 30's so I felt I had dodged a bullet and couldn't be positive. My mother and grandmother died of ovarian (my mother at 56). This year was different because she told me it was a saliva test we could do in the office and my insurance would surely cover it. Okay, I thought. No more excuses. I received the call a week before Christmas. Positive. Wow, I didn't expect that. I decided within 30 minutes that this would not upset me but rather empower me. I'll take control of my body and my future. I'll be a "previvor" before I need to be a "survivor." I met with a genetic counselor 3 weeks later. While this step was actually backwards I still felt it was important so she could hopefully put me in touch with the correct people to help guide me with all the options available. She did. I was able to schedule to meet with the OB/GYN oncologist before I could see the breast surgeon so I scheduled a complete hysterectomy with bilateral salpingo-oophorectomy. I had my surgery 10 days ago and am still healing. I meet the breast surgeon next week. It has only been 7 weeks since I found out I carry this gene mutation.

I have 2 teenagers and a 10 year old. I didn't want them to think I was sick and be afraid that I was having surgery so I was honest with them that I carried a gene mutation that makes me more susceptible to cancer. I was choosing to remove the organs that could get sick. I prayed they wouldn't ask me if they too could carry this mutation. One of my children did ask and I simply told him that it wasn't anything he needed to think about until he was an adult. It seemed to calm his fears. My girls seemed less than interested, thankfully.

With the breast surgery still ahead of me I only feel a fraction of the way there but I'm hopeful with good surgeons and good monitoring programs the future will be bright!

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Feb 11, 2016 05:35AM Moderators wrote:

Welcome Privivor,

Thank you so much for sharing your story with us. We know it will empower others to hear your experience and how you've dealt with it.

You may like to connect with the February Surgery group in the link below:

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Sending hugs and healing wishes your way.

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Feb 22, 2016 02:38PM sushimsg wrote:

I was diagnosed with Stage I BC in July of 2015 based on finding a lump after feeling pain in my right breast. As an aside my gynecologist, the first breast surgeon I consulted as well as the radiologist doing the biopsy, thought the mass was a fibroadenoma. Pathology report showed a grade 3, Estrogen and Her 2 positive 1.8 cm cancerous tumor. I received 6 rounds of chemo (TCHP) and my surgical plan was for a lumpectomy and radiation. However a subsequent MRI showed a non-mass enhancement which was later biopsied and found to be DCIS and more invasive cancer in the same breast. I asked for the MRI because I thought we should have pre-surgery imaging! My BS insisted we could still do the lumpectomy and radiation but I opted for a bi-lateral mastectomy. Since I was 45 at the time of diagnosis genetic testing was suggested. There is no breast cancer history in my family, but I did the test anyway and received the news in November that I was BRCA 1 positive. In December I had the bi-lateral mastectomy but also had an oophorectomy due to my positive BRCA 1 result. At the time of surgery my tumor had shrunk to 7mm. My sentinel node was negative (finally some good news!). I am currently undergoing expander reconstruction and will have the implant surgery sometime in March or April. I was lucky because my insurance company paid for the genetic testing (nearly three thousand dollars!). I wonder how the statistics would be affected if all women who had breast cancer were tested. I never thought in a million years I would be positive due to a lack of family history. I wish all of you strength and triumph.

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Feb 23, 2016 10:24AM movingsoccermom wrote:

What led to testing?

Mother of 2, daughter and son. Multiple relatives with cancer. Maternal side: 3/7 with breast cancer, one who had it twice. 1/7 with ovarian cancer. 1/7 with uterine cancer. The other ladies: one had, and died from, MS. The last one is my Mom, at 80 years of age cancer free. Of the 3 with BC, 2 tested BRCA 1&2 and negative; my Mom tested and negative. Paternal side: 1/2 ovarian and died from that. My Dad died after 7 years of fighting colon cancer. Thus, in his family 2/3 died from cancer. Siblings: Sister with triple negative BC, brother with Hodgkins lymphoma, brother with 1/3 of colon removed from nearest thing to cancer the pathologist had seen (also on Metformin for many years). Only one sibling with nothing related to cancer thus far.


No findings of mutations BRCA1/BRCA2, ATM, BARD1, BRIP1, CDH1, CHEK2, MRE11A, MUTYH, NBN, NF1, PALB2, PTEN, RAD50, RAD51C, RAD51D, TP53.


Positive results would have shaped my future care, but I would still have opted for lumpectomy and radiation, since at the time my Aunt with BC twice, was in her 80's and that was good enough for me. I did believe, prior to the results that there had to be a genetic component, since statistically the amount of cancer in my family was was out of the norm. I remain stunned that everything was negative and firmly believe that something will be found in the future. I most particularly wanted my daughter to know if she needed more frequent screening at a younger age. Even with these results, I will push her for mammograms early and often, especially since my tumors were not palpable.


My husband is active duty USAF. My RO thought with my family history that genetic testing was critical and referred me to the genetic counselor who ordered the tests after a consultation.


Extensively with my Mom and spouse. It was simpler since DH is triple board certified, Internal Medicine, Critical Care and Pulmonary. DH was very supportive and felt it would be important for our children. Let the kids know that I would be doing the testing and would keep them informed. Have shared the results family wide.


For me, I hoped the testing would provide an explanation for all the cancer in our family. I was particularly incensed with my diagnosis, given a healthy lifestyle and breast feeding my children for a combined total of 2.5 years. It was a let down for all the negatives, although it did provide some great relief for DD and DS. I looked upon the testing as another tool in evaluating my choices moving forward.

Dx 3/3/2015, IDC, Right, 2cm, Stage IA, Grade 2, 0/3 nodes, ER+/PR+, HER2- Surgery 4/1/2015 Lumpectomy: Right; Lymph node removal: Right, Sentinel Radiation Therapy 5/27/2015 Whole-breast: Breast, Lymph nodes Dx 5/7/2019, IDC, Right, 2cm, Stage IV, metastasized to bone/lungs/other, Grade 2, 0/3 nodes, ER+/PR+, HER2- (IHC) Targeted Therapy Ibrance (palbociclib) Hormonal Therapy Faslodex (fulvestrant)
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Feb 23, 2016 10:38AM Moderators wrote:

Dear sushimsg and moving soccer mom, Thank you both for sharing your stories. They will certainly help others who are walking similar paths. The Mods

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