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, mismatch repair genes (MLH1, MSH2, MSH6, PMS2, EPCAM), and VUS (variants of unknown significance)

Posted on: Sep 22, 2015 01:16PM - edited Sep 23, 2015 10:15AM by moderators

Posted on: Sep 22, 2015 01:16PM - edited Sep 23, 2015 10:15AM 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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Dec 4, 2019 06:29PM - edited Dec 4, 2019 06:30PM by hyphencollins

What led you to do testing?

When diagnosed at age 40 I was tested for brac 1/2 and was negative. I recently found out that a relative was positive for palb2 and my MO referred me for expanded testing so that she would know if there are additional cancers she should be screening me for.

What were the results and any choices made as a result?

I found out I have a pathogenic palb2 mutation and a vus rad51c (likely benign). The Dr who did the testing recommended MRCP pancreatic screening due to elevated risk of pancreatic cancer. I said ok and then did "research" (google) and found out it's probably not really worth screening...but the mrcp came back with some findings anyway. Dr says it's very unlikely to be cancer but will be doing EUS with possible biopsy because the pancreas is a "bad actor" so you want to make sure to get anything that could turn into cancer... in terms of breast cancer, I've already had a bilateral mastectomy and am taking anastrazole so not sure the palb2 will impact my treatment now.

Was payment an issue?

No, I was fortunate. Insurance fully covered.

Have you discussed the results with your family?

Yes. My kids are still young but will share when they are older so that they can make decisions around testing and screening.

What other suggestions would you have?

Not an issue for me because I already have a history of cancer but the genetics counselor did caution that results could potentially impact a person's ability to get insurance, so as unfair as that is, it may be worth looking into that first. Also be prepared for the geneticist to downplay likelihood of positive result even if you have a strong family history of cancer... I sort of felt talked down to about diet, exercise etc until she realized I had a personal history of breast cancer and a relative with a positive test...

Multifocal IDC with EIC. Oncotype 23. Palb2 mutant. Dx 5/2014, DCIS, Grade 3 Dx 5/2014, IDC, Left, 1cm, Stage IIA, Grade 1, 1/11 nodes, ER+/PR+, HER2- Surgery 7/30/2014 Lymph node removal: Left; Mastectomy: Left; Prophylactic mastectomy: Right; Reconstruction (left): Tissue expander placement; Reconstruction (right): Tissue expander placement Chemotherapy 10/1/2014 AC + T (Taxol) Radiation Therapy 1/25/2015 Breast, Lymph nodes Hormonal Therapy 3/9/2015 Tamoxifen pills (Nolvadex, Apo-Tamox, Tamofen, Tamone) Hormonal Therapy Arimidex (anastrozole)
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May 18, 2020 08:41PM CaliLove wrote:

I have paid cash for mammograms since age 31 (39 now) since I was "too young" for a referral to get one through insurance. Every October our local radiologist have a special $75 cash price for mamma's. I have an alarming family health history of several invasive cancers on both sides of my family. BC being the highest. In the fall of 2018 I begged my obgyn to refer me for one, once again listing the family members that have passed from BC and others. She finally caved after much back and forth discussion and tears and sent me. I went in and had it done finally, and hadn't heard anything so I thought I was ok again. New years day 2019 I get a call from the radiologist (while on vacation w my family) that they found something suspicious and to come in ASAP for another mammogram and ultrasound. My heart sank.

My whole life I knew I was a ticking timebomb. Everyone seems to have had and passed from BC, ovarion, colorectal, skin, brain. Already had hysterectomy at 36. The follow up mammo and ultrasound led to biopsy. Biopsy was negative for cancer but suspicious (??), just cystic breast disease, but my cysts dont dissolve or reabsorb. Grow until painful or removed due to suspicious mass. So then I meet with my breast surgeon. She sends me for genetic counselling because she is concerned over family history. Found out I have a TP53 mutation. Makes so much sense looking through family history! I had my double mastectomy in Oct of 2019. Took from Feb to Oct to get insurance approval for my surgery. Surgery day was my birthday. Found out on Thursday evening that I was having surgery, and Tuesday morning had it done. I had complications during surgery ( immediate necrosis and conomicstions with both expanders, 6 hour surgery), tired hyperbaric chamber therapies. Fast forward exactly a month to the day later and admitted through ER due to sepsis- strep infection in my blood. Never had been so sick in my life. I had no clue how serious it was. Expander and tissue on the bad side removed along w alloderm removal. Was on mega meds for 6 days. February 2020 i had surgery to put in right side expander with 100 cc filled (both sides)in OR with a synthetic version of alloderm. This Wednesday should be my last fill (currently 320 cc and awkward looking- one non existant, 1 funny shaped- can feel it more on ribs deeper inside like its positioned oddly) and discuss TE swap to implant with fat grafting. I didnt have much tissue to begin with and expansions have been so painful. PS says to not judge final outcome by expanders. But, I am scared. My boobs now look like 2 different aliens. I'm not as big as I was before yet, and I dont see how I have enough tissue to expand any more. Or to have a larger implant.

My husband and close friends have been so supportive and loving- Praise the Lord! My parents aren't. Mom has had countless lumpectomies and no genetic counseling. Each lumpectomy is done by her obgyn and a general surgeon. She wasnt referred to our cancer center for care like I was. It's not a competition but honestly I feel it is. Not much discussion or support there, just always a backhanded compliment or dig and eye roll. I wouldnt judge someone else for being proactive and preventing life changing health issues.

I feel so guilty for needing to talk (crying as I type) because I wasn't diagnosed, and so many others are far off worse than I am. Now all of my doctors are specialist and oncologist. My mutant (ninja turtle) gene "qualifies" me for aggressive monitoring. Working with my new gyno oncologist to decide if ovaries are to be removed.

I'm grateful for the knowledge and attention my mutation brings, but instead of relief I feel guilt and now anxiety over not just my future, but my children's futures. As I have mention my husband and close friends listened to my wants and needs, and supported my decision in the mastectomy and reconstruction, loved me through all of it. I feel like I have had complication after complication. Is this punishment? Is there pride and sisterhood being a previvor? Is it offensive to those diagnosed?? One previvor broke it down like this... if you had a 93% (insert your risk number here) chance of being killed in a car crash, would you drive that day? No, I would not. My parents response to that question.... well it depends on where I needed to go that day. *Jaw on floor*

I started this journey because I believe in being empowered as a woman to take charge where you can of your health. I did this for my children (10 and 13). I want to watch them grow and hold their hand and love them through any of their life trials. I pray the do not have the mutation.

I watched countless blogs and vlogs, researched incessantly. I feel confident in my decision, but that nagging guilt. Scared to complain, scared of the future, scared for my children's health. Is Li-Fraumeni syndrome a secret? I find it so odd and wrong that I begged for insurance paid mammograms for years, but now- hey I can have a mastectomy and reconstruction. Trying to finish this process before our insutsnce expires. Thankful for insurance and only paying copays.

My suggestion for anyone going through any of this is make a list or journal of questions. Knowing now how common complication are, I want others to know it isnt an easy surgery and then sudden recovery. Always talk to your care teams and ask honest questions. Research and talk to other survivors or those with your mutations. I'm one that needs to know all contingency plans to plan accordingly.

Sorry for the lengthy post. Sending you all my love and prayers. So thankful to find this site ♡

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May 19, 2020 05:57AM rah2464 wrote:

Cali I think you are a powerful, beautiful warrior!!! You made difficult choices to plan for your future and that takes such courage. I am sorry you have had such horrible complications beyond the emotional impact as you travel this path. Believe in yourself, keep pushing forward, I hope things get better very soon.

Dx 5/23/2018, IDC, Left, 1cm, Stage IA, Grade 2, 0/4 nodes, ER+/PR+, HER2- Surgery 6/26/2018 Mastectomy; Mastectomy (Left); Mastectomy (Right); Reconstruction (Left): Silicone implant; Reconstruction (Right): Silicone implant Hormonal Therapy 7/26/2018 Tamoxifen pills (Nolvadex, Apo-Tamox, Tamofen, Tamone)
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May 19, 2020 07:15AM - edited May 19, 2020 08:28AM by moderators

Hi CaliLove - Welcome to the BCO community, although we are sorry that your cancer story brought you here. We hope that you will stay active and continue to share your experiences with our members. We're here for you!

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Jun 2, 2020 06:12PM CaliLove wrote:

Thank you. I'd love to hear from other women with Li Frauneni Syndrome and those that have had preventative mastectomies because of it. ♡

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Jun 2, 2020 06:17PM CaliLove wrote:

Thank you Rah2464

I greatly appreciate the kind words. Well, another co location and now next week I have my expander to implant swap and all the clean up. Optimistic. ♡♡

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Jul 15, 2020 07:30PM ts542001 wrote:

i'm sorry that this is such a long post, i tried to be concise but wanted to include all the important facts and history.

i have recently decided to tell my story. i was first diagnosed with bilateral breast cancer in march 2001. dcis in one breast and stage one invasive ductal ca in other breast (er/pr+ her2-) i was 45 years old at the time, still considered on the young side for breast cancer.. my history at that time was my mother was diagnosed with breast cancer at age 43, stage 1, negative nodes at the time of diagnosis, but two years later had bone mets and died 10 years after initial breast cancer diagnosis. in addition my mothers sister had breast cancer IDC in her early 60's and 8 years later diagnosed with ILC that was discovered because of metastatic disease. She died a few weeks after my initial diagnosis in 2001. my family is Ashkenazi Jewish and of course with that history i went for genetic counseling and although the genetic counselor was sure i would be BRCA positive, but i wasnt. i was told at the time, they are sure i have a genetic cause of the cancer, but they just havent identified what the gene is yet. about 9 years ago my daughter was diagnosed with DCIS at age 32. a year later she had DCIS in her other breast. of course because of my daughters age they did full genetic testing on her, but all came back negative. genetic counseling suggested i come in again because lots of new genes have been identified and perhaps they will find one that they can identify as being responsible for my breast cancer. they were doing research on a bunch of different genes, i forget how many, but i told them i only wanted to be tested for genes that cause breast or ovarian cancer. (i have 3 daughters, including the one with the breast cancer and wanted to get as much info as i could for them). results come back and i was found to have Lynch Syndrome MSH 6 -a mismatch repair gene. Lynch is most often associated with colon cancer, and gastric cancer but there are other cancers it is responsible for including ovarian, uterine, kidney, bladder, pancreas and some others. At that time it was not thought that MSH 6 is Associated with breast cancer, but now they do consider it a risk factor for breast cancer. No one in my family had colon cancer or any other type of cancer, except for my fathers sister who died of a very aggressive pancreatic cancer (she died 2 week after diagnosis). my father was still alive and he agreed to be tested and he came back positive for lynch syndrome MSH6 - My father never had any of the cancers associated with MSH6 and he is now almost 90 and still has not had any of those cancers. his parents did not have any history of cancer and neither did any maternal and paternal aunts and uncles, of which there were 5 on his fathers side and 11 on mothers side.

i really didnt get anxious about the lynch syndrome, after all my father never had any cancer and in his family history there really was no other cancers. it was not known if my aunt (his sister) had MSH6 but she did have pancreatic cancer. also i already had my ovaries out because of the breast cancer, and subsequently had a hysterectomy as well, for uterine prolapse, so those two cancers i wasnt worried about. and at that time MSH6 wasnt felt to be a risk factor for breast cancer. as for colon cancer i was told to get a colonoscopy every 1-2 years and upper gi endoscopy every 2-3 years an thats what i was doing. i was also told to tell my siblings about the gene and to strongly advise them to get tested as well. neither of them ( my 2 brothers ) were tested. i was already considered high risk for breast cancer because of my personal and family history and my breast surgeon was sending me for mammogram every year alternating with MRI of breast 6 months after mammogram. last year around jan/feb 2019 i developed severe back pain, i already was diagnosed with spinal stenosis, so i thought the pain was from the the spinal stenosis getting worse, also in february 2019 i went for my yearly breast MRI and a suspicious lesion was found. biopsy was positive for IDC again. ER+PR-, HER2-. stage 1, grade 3. i also had micro invasion of sentinal lymph node, and lots of lympho vascular invasion. Oncotype was 28, which is in that "gray" area and given my history it was recommended to have chemo, but by that time my back pain was so severe that i would wake up at night and say to myself, this must be what metastatic disease in back feels like. MRI of back (because of the increase in pain) before i even started chemo showed multiple vertebrae with metastatic disease. i was given radiotherapy to a few of vertebrae that were the most affected. unfortunately most of the back pain did not resolve. i was started on letrozole and ibrance, i had continued back pain and after 4 months pet scan and repeat mri showed increase in mets in vertebrae and one area of metastatic disease that was starting to impinge on my spinal cord. had surgery to put in some rods and screws, because the vertebrae were full of cancer and they were afraid of them collapsing. i also had radiosurgery for the "leftover" breast cancer cells. genetic testing done on the pathology from that surgery showed, mismatch repair MSH6. i was taken off the letrozole and ibrance, they werent working anyway and started on keytruda, (immunotherapy.) fortunately, keytruda is like a miracle for me, after 5 treatments pet scan showed no active disease. had another pet scan 6 months later and i am still NAD. before i was started on keytruda i was told that my tumor was very aggressive, most likely from the mismatch repair/MSH6. So i actually have this breast cancer from my fathers side of the family. my first breast cancer, was likely to be from my mothers side.

story not over. if you will recall, my brothers did not go for genetic testing for lynch syndrome. last august 2019, only 6 months after my breast cancer diagnosis, one of my brothers was diagnosed with gastric cancer. his initial chemo didnt work, and his tumor also has the MSH6,mismatch repair. he too is on keytruda right now. after 6 months, his cancer is still present in stomach (less though), but no longer in liver and peritoneum. his onclolgist is very happy with how the keytruda is working on him and we are both continuing to get it.

so the take away lesson here is to follow up on genetic causes of cancer, they are finding more and more genes associated with breast and other cancers. and encourage family member to get tested as well. ( i had told my brothers several times to get tested, they chose to ignore me, as did my sister in law, who didnt seem to think it was very important). i dont know if my brothers cancer would have been found earlier, before mets to liver, but it may have, because he would have been paying more attention to his GI symptoms (which he told me he had for several months before he went for evaluation).

fortunately only one of my 3 daughters carries the MSH6 gene. she is already being monitored (she is now 32 years old). i'm not sure if she will opt to have a hysterectomy and oophorectomy when she finishes having her children. she will need to discuss with her genetic counselors. i know she has thought about bilateral mastectomy with reconstruction - probably in a few years.

i hope this all makes sense, please feel free to ask any questions.


Dx 3/2003, DCIS/IDC, Both breasts, <1cm, Stage 0, Grade 3, 0/3 nodes, ER+/PR+, HER2- Surgery 3/14/2003 Lumpectomy; Lumpectomy (Left); Lumpectomy (Right) Dx 3/13/2019, IDC, Left, 1cm, Stage IB, Grade 3, 1/1 nodes, ER+/PR+, HER2- Surgery 4/7/2019 Lumpectomy; Lymph node removal Radiation Therapy Surgery Immunotherapy Radiation Therapy External Chemotherapy CMF Hormonal Therapy Femara (letrozole) Hormonal Therapy Aromasin (exemestane) Radiation Therapy External Chemotherapy CMF Targeted Therapy Ibrance (palbociclib) Local Metastases Radiation therapy: Bone Local Metastases Radiation therapy: Bone
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Jul 15, 2020 08:08PM ShetlandPony wrote:

Mods, This is NOT a story to share for a project or page,

But I want to say hello to Terri and let her know that I hold the MSH6 mutation responsible for breast cancer in my case and in a first-degree relative. In both cases it is ILC. (There is also colon and skin cancer in the line.) When I was diagnosed while Premenopausal in 2011, I KNEW there was a genetic cause, but they only tested me for BRCA. After the mets diagnosis, MSH6 showed up in a genomic test on tumor. So I asked for genetic testing, and sure enough the MSH6 mutation was germline; that is, inherited.

Although there is now plenty of evidence that some Lynch genes, MSH6 and PMS2 in particular, are implicated in breast cancer, these genes are not yet on the standard breast cancer gene panels. You need a broader panel or an add-on to test for them. There is also growing evidence that ILC in particular is related to the Lynch gene mutations, so I think anyone diagnosed with ILC should get tested for Lynch. Out of seven family members tested so far, we have four positive for MSH6. Two with ILC, and two being closely monitored.

Knowledge is power. I am so glad Keytruda is working for you and your brother, Terri.

2011 Stage I ITCs sn, premenopausal, Oncotype 16. 2014 Stage IV mets breast,liver. TaxolNEAD. Ibrance+letrozole 2yrs. Fas+afinitor nope. XelodaNEAD 2yrs. Eribulin,Doxil nope. SUMMIT FaslodexHerceptinNeratinib for Her2mut NEAD 1 1/2yrs. GI/perit mets Dx 2011, ILC, 1cm, Stage IA, Grade 1, 0/1 nodes, ER+/PR+, HER2- Dx 2014, ILC, 2cm, Stage IV, metastasized to liver/other, Grade 2, ER+/PR+, HER2- Hormonal Therapy Tamoxifen pills (Nolvadex, Apo-Tamox, Tamofen, Tamone) Radiation Therapy Whole breast: Breast Surgery Lumpectomy
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Jul 17, 2020 11:53AM lillyishere wrote:

Thank you for sharing SP. I just checked my report from Aug. 2019 when I was diagnosed with ILC and I paid out of my pocket to get tested for 84 gene mutations, all came back negative. I went back today after reading your post and it seems that in the list of 84 genes, MSH1, MSG2, MSG3, MSG6, PMS2 were tested. I have two kids and I want them to know what genes they get from my side. You are a wise Lady with lots of knowledge and experience and I appreciate sharing with us.

ATW: What does 💗 - Growing Heart Emoji mean?

“Within five years, cancer will have been removed from the list of fatal maladies.” That was the optimistic promise to U.S. President William Howard Taft in 1910 when he visited Buffalo’s Gratwick Laboratory, “What’s taking so long?” Dx 7/31/2019, ILC, Left, <1, Stage IIA, 2/5 nodes, ER+/PR-, HER2- Hormonal Therapy 7/31/2019 Aromasin (exemestane), Femara (letrozole) Surgery 9/1/2019 Lymph node removal (Left); Mastectomy (Left): Nipple Sparing; Mastectomy (Right): Nipple Sparing; Reconstruction (Left): Silicone implant; Reconstruction (Right): Silicone implant Surgery 9/1/2019 Mastectomy (Left): Nipple Sparing; Mastectomy (Right): Nipple Sparing; Prophylactic mastectomy (Right) Surgery 9/19/2019 Lymph node removal; Mastectomy; Mastectomy (Left); Mastectomy (Right); Reconstruction (Left): Silicone implant; Reconstruction (Right): Silicone implant Hormonal Therapy 11/29/2019 Femara (letrozole) Hormonal Therapy 12/1/2019 Femara (letrozole), Aromasin (exemestane) Dx LCIS/ILC, Both breasts, 2/5 nodes, ER+/PR-, HER2-
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Aug 3, 2020 08:08PM comingtoterms wrote:

I had stage 2B BC in 2009, a large precancerous lesion in my rectum, June 2020 and as the result of a recommended screening of my ovaries and uterus in July 2020, a cancerous bladder mass was discovered.

I did genetic testing and found I am negative for everything. This makes me incredibly happy for my family, but mind boggling for me.

Guess it’s just bad luck.

Dx 1/9/2009, IDC/IDC: Tubular/IDC: Mucinous/IDC: Cribriform, Left, 2cm, Stage IIB, Grade 2, 1/27 nodes, ER+/PR+, HER2-

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