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Topic: Share your Genetic Testing Story

Forum: High Risk for Breast Cancer — Due to family history, genetics, or other factors.

Posted on: Sep 22, 2015 01:21PM - edited Sep 23, 2015 10:08AM by Moderators

Moderators wrote:

Dear Members,

Would you be willing to share your story if you have had genetic testing. 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.

Many, many thanks!

The Mods

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Posts 181 - 199 (199 total)

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Dec 20, 2017 05:09PM - edited Jan 20, 2018 04:15PM by Fab65

Hello all,

I am not diagnosed, but scheduled for a core biopsy on Jan 3. I am very interested in anyone who has tested positive for ATM (vus). I would really like to be able to compile all specific diagnoses info on people with positive ATM (vus), as my genetic counselor states more research is needed to understand the significance of this. I have one aunt who was tested due to our family history and her own diagnosis of BC, and she has requested a copy of the tests to share with me. I hope to be able to share this with all, ifit indicates she too is positive for ATM.

What led you to doing the testing? I had a colonoscopy in 2013 that resulted in a tubular adenoma, and it had only been two years since my last colonoscopy. Also, I have multiple cancers on both side of the family - some at very young ages.

What were your results, and what choices have you made based on the findings? My genetic testing results indicated negative for everything except ATM (vus). Because not much is known about this yet, I make sure to do monthly BSE as I have very dense breasts (heterogeneous) and mammo and ultrasound could potentially miss issues. Also, I never miss colonoscopy deadlines as well as seeing my GI in between if indicated. I even see a dermatologist annually as I have had precancerous areas removed and most recently had a dyplastic Nevis with severe atypia removed.

Was payment an issue? I only had to pay about $125 for my portion of the fees thanks to good insurance.

How have you discussed these decisions with your family? I explained that I was getting tested to make sure there were no underlying risks for cancer,and said I would do whatever the genetic testing indicated should be done to prolong good health and longevity. I plan to push for my children to get tested too. My kids are 33 and 27 and one has a child, so it becomes very relevant to know what may hinder their health.

What suggestions would you have for others? Although some would rather not be burdened with the worries of what “may cause cancer", I prefer to remain proactive and preserve as much of my health and life as possible. Knowing what risks “might" be in your future is the best way to best prepared “if" we are ever faced with that awful diagnosis. Take the test. Know what risks you face. Then live life to the fullest and enjoy your family and friends for as long as you can!

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Jan 20, 2018 09:50AM prairiesod3 wrote:

Great questions! My great grandmother (cervical ca. passed away at 52), grandmother (breast passed away at 54), mother (breast at 45 passed away at 48, she had HER2 but Herceptin wasn't available) and maternal aunt (cervical at 20, had a hysterectomy, breast .ca. at 46 did a lumpectomy and 5 years of tamoxifen...65 and alive!). I started self checks at 17 and mammograms at 36. I also fought for a month to get genetic testing done at 36 which the insurance company finally did pay for. I was diagnosed with a small basal cell carcinoma at that same time, as well. The test results were negative in 2011, so I called the insurance company to see if I could have the bilateral mascectomy and removal of my ovaries anyway. I was told no, the only way this would be approved is if I had cancer or a genetic marker. 6 years later, here I am. I had genetic testing in July for more markers and they were also negative. 44 years old, alive and kicking cancer out. The self checks came in handy, because my mammogram 6 months prior was negative. I have been having lots of educational talks with my 17 year old daughter about screenings and self exams. There are so many new treatments from when my mom was diagnosed when I was 17 years old, too. I know this is crazy...but I wanted my testing to be positive. I don't want my daughter to have to go thru the, "come back when you have cancer" line from insurance if she wants prophylactic surgery. I am also hopeful that we will have many more preventative treatments and better screenings, too.

Targeted Therapy 1/15/2017 Herceptin (trastuzumab) Targeted Therapy 2/5/2017 Perjeta (pertuzumab) Dx 6/20/2017, IDC/IDC: Tubular, Right, 3cm, Stage IIB, Grade 3, ER+/PR+, HER2+ (IHC) Chemotherapy 7/19/2017 AC + T (Taxol) Targeted Therapy 9/11/2017 Herceptin (trastuzumab) Targeted Therapy 9/11/2017 Perjeta (pertuzumab) Surgery 12/27/2017 Lymph node removal: Right; Mastectomy: Left, Right; Reconstruction (left): Tissue expander placement; Reconstruction (right): Tissue expander placement
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Jan 20, 2018 03:33PM Moderators wrote:

Prairies,

Welcome to Breastcancer.org and thank you very much for sharing your story! We'd love to include it on our main site's Member Stories About Genetic Testing section -- would you have a photo you'd like us to add to your story? It can be of you or of something that represents you. Send along in PM if you wish!

Looking forward to seeing you around the boards!

--The Mods

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Jan 21, 2018 07:26AM Castigame wrote:

I probably sound like a broken record.. here I go again. 

Was not the cost for me.  I thought I had both BRCAs bc mom had ovarian followed by breast cancer. no need other than wanting to be branded by insurances companies.  Ovarian 20 plus yrs ago which she was given 1 yr tops and breast 10 plus yrs ago. She is 86 and still kicking. other than age related ailments, no Alzheimers.  I have 3 older full sisters past menopause. None has any C issue.  So I have a hope. 

After BC bomb blew up on my face, I agreed bc I knew I got branded by insurances companies already.  Surprise surprise I tested neg for both BRCAs. but PTEN Cowden's positive. So I had bad gene's after all.  

My two cents is ladies, the straw broke camels back is my horrendous period. I had no symptoms other than indentation appeared 3 to 6 months prior to the fateful mammo. I never had implants. never smoked.tried birth control pill only one month.  Got annual mammos since my early 30s at a same place.  Self exam is crucial but female system is highly interrelated. So if your daughter's period, keep an watchful eye. 

Mimi Dx 1/11/2017, IDC, Left, <1cm, Stage IA, 0/2 nodes Dx 1/11/2017, IDC: Papillary/IDC: Cribriform, Right, 3cm, Stage IIIA, Grade 2, 4/17 nodes, ER+/PR+, HER2- (IHC) Surgery 2/14/2017 Lymph node removal: Left, Sentinel, Underarm/Axillary; Mastectomy: Left, Right; Prophylactic mastectomy Chemotherapy 3/20/2017 Radiation Therapy 7/30/2017 Whole-breast: Breast, Lymph nodes, Chest wall Surgery 10/29/2017
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Jan 21, 2018 07:37AM jojo2373 wrote:

http://newsroom.cumc.columbia.edu/blog/2018/01/18/...

Hello - anyone else with these variants? I have a MSH6 variant with direct relatives having breast cancer.


Once you choose hope, anything's possible. ~Christopher Reeve Dx 7/27/2012, IDC, Left, 2cm, Stage IIB, Grade 3, 2/3 nodes, ER+/PR-, HER2- (FISH) Chemotherapy 8/31/2012 AC + T (Taxol) Surgery 1/7/2013 Lumpectomy: Left; Lymph node removal: Left, Sentinel Radiation Therapy 2/4/2013 Whole-breast: Breast, Lymph nodes Hormonal Therapy 4/8/2013 Tamoxifen pills (Nolvadex, Apo-Tamox, Tamofen, Tamone)
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Jan 21, 2018 07:47AM Okkate75 wrote:

I was tested due to age and family history, and I tested positive for a CHEK2 mutation. A nurse told me over the phone that I have a 50/50 chance of developing a cancer in my other breast. That's it. It will be 4 months until I can get an appointment with a genetic counselor, and I don't know if insurance will cover it. My docs know little about the mutation, and neither does anyone else, as far as I can tell. It doesn't change my treatment plan, and since I have cancer, I was already going to be in a high risk screening group.

This has felt like the most useless and least responsible part of my breast cancer experience so far. If so little is known about these rare mutations, why are you telling me about them? The testing company seems to be exaggerating the risk, and I don't know why. My CHEK2 support group is full of of people getting PBMs. That's a huge surgery. Is there really just cause for it? It all feels very reckless to me, though I know for others it offers peace of mind. This is just my experience.

Dx 11/17/2017, IDC, Left, <1cm, ER+/PR-, HER2- Surgery 12/7/2017 Lumpectomy: Left; Lymph node removal: Sentinel Chemotherapy 1/5/2018 Cytoxan (cyclophosphamide), Taxotere (docetaxel) Hormonal Therapy Radiation Therapy 5/15/2018
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Jan 21, 2018 08:27AM - edited Jan 21, 2018 08:28AM by farmerlucy

Okkate - It has been a few years but I saw Dr Charles Hollingsworth at Mercy OKC for genetic counseling. He is amazing and I would insist on seeing him, and not an underling. He gave me fifty percent lifetime risk though not Brca pos, and felt like a PBM was reasonable (the only other person besides me who thought so). Turns out I already had BC despite blue ribbon screening finding it. He has a book on BC genetics I think. I saw it on Amazon.

Dx at 51 after a preventive mx that wasn't. Oncotype dx 3. 3D tattoos from Vinnie! PTSD?? You are not alone! Surgery 2/20/2012 Prophylactic mastectomy; Reconstruction (left): Tissue expander placement; Reconstruction (right): Tissue expander placement Dx 2/24/2012, IDC, Right, 1cm, Stage IA, Grade 2, 0/1 nodes, ER+/PR+, HER2- (FISH) Surgery 3/10/2012 Lymph node removal: Sentinel Surgery 7/21/2012 Reconstruction (left): Silicone implant; Reconstruction (right): Silicone implant Hormonal Therapy 4/9/2013 Tamoxifen pills (Nolvadex, Apo-Tamox, Tamofen, Tamone) Surgery 4/13/2015 Prophylactic ovary removal
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Jan 22, 2018 09:42PM Elijahgirl wrote:

The odds seemed stacked, I have recently loss my Mother to Breast cancer and my sister has staged 4 breast cancer. So I recently was tested for BRCA 1&2 , which I tested positive for BRCA 2 Since this report I and have had bloody nipple discharge as well.

Last week I had a Breast MRI which showed a rapid initial phase and a delayed plateau phase the BI RAD came back as a 4.

I am now scheduled to have a biopsy next week. Nothing I have read so far sounds encouraging. Wondering if anyone has had a similar experience

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Jan 22, 2018 09:46PM - edited Jan 23, 2018 05:07AM by Moderators

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Jan 23, 2018 06:26AM Moderators wrote:

Elijahgirl, welcome to Breastcancer.org! We guess you had published the same post twice by mistake, so we have deleted one of them.

We're so sorry for your recent loss and all you're going through, but glad you have found a great place for information and support. Wishing you good luck with biopsy and everything. Please, keep us updated on how you're getting on, we're thinking of you!

The Mods

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Feb 27, 2018 12:47PM - edited Feb 27, 2018 12:52PM by helenlouise

I have an appointment for genetic counselling in early May after my oncologist requested for the counselling on my behalf. In Australia you can qualify for government funding. I would have paid if required. Not covered by my health insurance (hospital only).

I met the criteria because of my age (under 60), plus my diagnosis (triple negative) and my maternal grandmother (65) died of breast cancer.

The very interesting yet profoundly sad piece of the puzzle is a suggested link between melanoma and BRACs mutation which the counsellor mentioned. Both my father (67) and brother (50) died of melanoma. So I wonder is it possible that my breast cancer and my brothers melanoma could have come from our grandmother, our father, one to each or no link at all. The counsellor did comment that familiar melanoma can be coincidental.

Our family, like some, is plagued with cancer. My mother died just two years ago from lung cancer (86) , my maternal cousin last year from sarcoma (59), my paternal aunt from non-Hodgkins lymphoma (77), my maternal cousin (64) is managing melanoma!

My reasoning behind pursuing the genetic counselling is two fold. 1. I believe more information is better than less, especially for our children. 2. Without the research we can't have the data; the more data the better qualitythe information.

Ps. It is nice to hear from Ashkenazi's. I had never heard of this term of lineage until I started researching triple negative breast cancer.

2013 DCIS treatment lumpectomy x2 plus radiation. 2018 new IDC treatment Neo adjuvant chemotherapy. Dx 1/2013, DCIS, Left, <1cm, Stage 0, Grade 3, ER+/PR+ Dx 2/2018, IDC, Left, 2cm, Stage IIIB, Grade 3, ER-/PR-, HER2- Chemotherapy 2/25/2018 Cytoxan (cyclophosphamide), Ellence (epirubicin), Fluorouracil (5-fluorouracil, 5-FU, Adrucil), Taxotere (docetaxel) Radiation Therapy Whole-breast: Breast Surgery Lumpectomy: Left Surgery Lumpectomy: Left
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Feb 27, 2018 01:55PM Veeder14 wrote:

I had genetic counseling and am from Ashkenazi lineage. I was tested for BRAC and am BRAC2 positive. By the time the test came back positive I already had melanoma, and apparently I already had breast cancer (but didn't know it until an MRI last November). So it's there's definitely a link between Melanoma and breast cancer. I got tested just in time so that increased diagnostic tests can be done and insurances pays otherwise the breast cancer would still be unknown.

Interestingly enough my surgeon said that the profile of my cancer was not an aggressive cancer due to BRAC. So I asked why did I get breast cancer, was it just the family connection? He said that I'm an average female in the Bay Area (where breast cancer rates are higher).

My mom and sister both tested positive for BRAC2, of course the test wasn't around when my grandmother was alive, and she didn't have breast cancer. So I wonder why my generation and my mom's generation have it?

Sorry to hear about all the deaths in everyone's family.

Dx 1/2/2018, ILC, Left, <1cm, Stage IB, Grade 1, 0/7 nodes, ER+/PR+, HER2- Surgery 1/26/2018 Lumpectomy: Left; Lymph node removal: Sentinel Radiation Therapy 3/8/2018
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Feb 27, 2018 06:22PM Moderators wrote:

Helen and veeder -- thank you for sharing your stories! Would you mind sending us a PM with a photo of yourself or something that represents you to go along with your story?

Thank you!

--The Mods

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Mar 12, 2018 10:20PM Seriously-Cali wrote:

What led you to doing the testing?

Surgeon ordered genetic testing because I was 42 at the time of diagnosis. He said they order it on anyone under 50.

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

I tested positive for a mutation in MUTYH gene. It’s associated with colon cancer which runs in my family. It’s also associated with an increase in breast cancer and recurrence of cancer. Breast cancer does not run in my family. Even though I am heterozygous for the mutation It definitely played a role in my decision to have a double mastectomy. I also had a colonoscopy which was clear. I will have to have one every 5 years.

In addition, I tested positive for a BRCA2 mutation of unknown pathogenicity.

Was payment an issue?

No. Insurance covered it 100%

How have you discussed these decisions with your family?

Yes. I talked to my siblings. Most likely the gene is from my paternal side. The genetic counselor did not recommend testing my children for the gene at this time.

What suggestions would you have for others?

I think it’s really good info to have. Knowing my recurrence percent is higher than average will help my doctors monitor my future screenings.

Dx 11/2017, IDC, Right, 3cm, Stage IIB, Grade 2, 3/28 nodes, ER+/PR+, HER2- Surgery 12/13/2017 Lumpectomy: Right; Lymph node removal: Sentinel Chemotherapy Cytoxan (cyclophosphamide), Taxotere (docetaxel) Surgery Lymph node removal: Right; Mastectomy: Right; Prophylactic mastectomy: Left
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Mar 27, 2018 05:52PM Lilypond wrote:

I was first diagnosed with breast cancer in 2005, stage 1, grade 3, triple negative. That should have been an indication. My surgeon shrugged his shoulders and said, "We have no idea where this came from." The fact that my grandmother had died of breast cancer and my mother had died of ovarian cancer should have been a clue, but no one suggested genetic testing to me at that time. I had a lumpectomy and went through chemo and radiation. I had annual mammograms for several years which all came back as "normal." My niece, who was in her early 30's had a very astute doctor who, upon learning of her family history, suggested she undergo genetic testing. Her results came back positive for the BRCA2 gene. She was terrified and opted for preventative double mastectomy. Within a year of her results, my annual mammogram showed "suspicious" cells in my other breast. Those were diagnosed as stage 0, in situ. Knowing I had the time to do the research, I opted for genetic testing, as well. My niece was kind enough to share her testing results with me so I didn't have to take the broad spectrum tests, but focus on this one thing. I first had to meet with counselors and geneticists who drew up a whole family tree. I think they had a pretty good idea that this was genetic and given my heritage and ancestry, told me right on the spot that it was common. Because my niece had already gone through the whole range of genetic testing, which was covered by her insurance, I could focus on testing for just that one gene, which was far less expensive. I tested positive for BRCA2, as well. Rather than mess around with it, I opted for bilateral mastectomy, as well as total hysterectomy (uterus, cervix, fallopian tubes and ovaries).

In closing, all I can say is there are a lot of different breast cancers, but if you come up triple negative and your doctor shrugs his shoulders and says he/she has no idea where this came from, get genetic testing. I would also like to say that men can carry this gene and pass it on to their daughters. My niece's mother has no history of any cancer in her family. My brother (her dad) evidently inherited it from our mother, who inherited it from her mother, etc., etc.

Knowing there is a genetic predisposition can be helpful and hurtful.

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Mar 28, 2018 06:09AM Moderators wrote:

Lilypond, welcome to Breastcancer.org and thank you for sharing your story here with us! Would you be able to send us private message with a photo to go along with your story?

Thank you!

The Mods

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Apr 15, 2018 10:08AM - edited 2 hours ago by Recap

Age 61, German ancestry, no known Ashkenazi Jewish ancestry, no known consanguinity (genetic traits are passed down thru generations, and if there were too-close-relationships between too-close-relatives, the genetic load can double down in subsequent generations. I answered no known consanguinity, but there is a family history of webbed toes popping up once per generation.)

Mammo, Diagnostic Mammo, Ultrasound Sept. 2017-initial radiologist report did not give BI-Rad score but recommended Ultrasound FNA/fine-needle-aspiration biopsy. Report later revised to BI-Rad 4B.

Genetic testing (blood test, not a mouth swab like on TV) Feb 2018.

Mammo-guided Stereotactic Core Needle Biopsy Feb 2018-12 samples, path report said microcysts,scant stromal fibrosis,and microcalcifications in milk ducts (benign), later on report revised to scant microcysts, stromal fibrosis, and microcalcifications in milk ducts (benign).

So, I met with a genetics counselor whose professional initials after name were MGCS, and below name it said Certified Genetic Counselor. We were all over the road map during the meeting, collecting family history-they specifically want full name and relationship of each relative with history of cancer, type of cancer, plus age at diagnosis and age at death if deceased.

I descend from large families, and I don't know many of my past relatives-just know of them. My paternal grandmother was born in 1887 for example. If you are into geneaology you know how vague cause of death documents were back then. My paternal greatgrandfather (newspaper ~1910) 'Big Hank' traveled to Chicago to consult with medical dr about his 'stomach trouble." He was a very large, obese man and my guess is he had colon cancer as have many of my paternal line relatives. Dad in high school football articles was referred to as Bone Crusher :-) My maternal great-grandmother's county death report said "female trouble." My mother had breast cancer, my sister had ovarian. Who knows?!

Two separate genetics company's packages were presented as options. One screened for a much longer list of genetic factors. It was obvious which one they wanted me to select. However, since I find this screening somewhat esoteric at my age, I went with the INVITAE option because she guaranteed out of pocket would not be more than $250 and the other option came with no guarantee. (In actuality, the final charge I saw on a billing document said $1500 but was also stamped DNB or Do Not Bill. I was never billed anything.) ps just discovered they did a pre-auth with my insurance, but pre-auth'd the date as the day after my blood draw, which meant the insurance then denied the claim based on date according to the EOB BCBS sent me-which explains the DNB.

They tested for ATM, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, NBN, NF1, PALB2, PMS2, PTEN, RAD51C, RAD51D, STK11, and TP53 genes. My results revealed a genetic variant of uncertain significance: c.1096C>T (p.Arg366Trp) in the RAD51C gene. No mutations or variants were identified in the other genes analyzed.

The RAD51C gene, when it carries one pathogenic RAD51C variant (multiple variants) is associated with an increased risk for autosomal dominant ovarian cancer and possibly breast cancer. Additionally, preliminary evidence supports a correlation with autosomal recessive Fanconi anemia.

My variant however has uncertain significance and conclusions cannot be drawn. The more humans get tested, the more mapped out these variants will become over time.

Science I don't understand:

This sequence change replaces arginine with tryptophan at codon 366 of the RED51C protein (p.Arg366Trp) The arginine residue is moderately conserved and there is a moderate physiochemical difference between arginine and tryptophan.

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Apr 15, 2018 02:54PM Oats21 wrote:

my story started 6 years ago when my family Dr asked if I wanted to see a genetic counselor about testing as all the female relatives on my dad's side died of breast cancer - my grandmother and aunt. My grandma was a war bride and most of her family died in the war and she didn't keep in touch with any remaining members. Because of the scant history I didn't qualify for testing. However, less than a year later my sister was diagnosed with IBC and died less than 6 months after diagnosis - and she tested positive for a BRCA1 mutation, as did my dad and myself. Five years later I was scheduled for a prophylactic mastectomy - took that long due to pregnancy and breast feeding - and pre-op imagining showed an area of concern which a biopsy revealed as cancer. I have now completed my active treatment and have scheduled a prophylactic oophorectomy.

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Apr 16, 2018 07:25AM - edited Apr 16, 2018 01:22PM by Moderators

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