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 02:16PM - edited Sep 23, 2015 11:15AM by moderators

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!

The Mods

To send a PM to the Mods: community.breastcancer.org/my/...
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Page 9 of 12 (116 results)

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Dec 10, 2018 11:31AM murfy wrote:

Rav, the Promethease report can be difficult to interpret and it took me awhile to master. Please feel free to PM me questions.

Dx at 62: Oncotype=52; Path (ER=99%, PR=0%, Ki67=55%) Dx 10/2017, DCIS/IDC, Left, 1cm, Stage IA, Grade 3, 0/5 nodes, ER+/PR-, HER2- Surgery 11/14/2017 Mastectomy; Mastectomy (Left) Chemotherapy 12/1/2018 Cytoxan (cyclophosphamide), Taxotere (docetaxel) Hormonal Therapy Aromasin (exemestane)
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Feb 5, 2019 10:56AM dakrock wrote:

I was diagnosed with ILC and had mastectomy in February 2018.   About 6 months later I had a melanoma on my face which required 2 surgeries. MY BS recommended I get genetic testing to make sure the breast cancer and the melanoma did not have the same mutations.  Just got the results back and they say "Variant of Uncertain Significance identified in MUTYH.  Complete results say

Gene - MUTYH     Variant- c576+3A>G (Intronic)   Zygosity - heterozygous    Variant Classification - Uncertain


The available information suggest that this variant might be benign but this has not been confirmed.  Test results were inconclusive for the MUTYH gene because it is unclear what effect if any the changes have on the gene. some studies indicate that one MUTYH mutation might result in a small increased risk of cancer but this has not been confirmed 


Can anyone tell me what this means???

Bonnie Dx 12/4/2017, ILC, Right, 2cm, Stage IA, Grade 2, ER+/PR+, HER2- Hormonal Therapy 12/5/2017 Femara (letrozole) Surgery 2/23/2018 Mastectomy: Right; Reconstruction (right): Nipple reconstruction, Saline implant Hormonal Therapy Arimidex (anastrozole)
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Feb 5, 2019 11:51AM lilkim3576 wrote:

I had genetic testing done almost 3 weeks ago. My mother has had breast cancer twice in the past 3 years, my father has had prostate cancer. It was highly recommended that I have this testing done. Now all I can do is wait .. wait .. wait for the results and try not to let my mind take over with negative thoughts.

I have thought about this since my mom was diagnosed the first time. If I have mutations, I will have a double mastectomy (without question). It may seem drastic to some, but I have two teenage boys and If I need to lose my breasts to remain healthy and see them grow up, I will do it!

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Feb 5, 2019 02:06PM murfy wrote:

Hi Dakrock. I looked up MUTYH gene on Clinvar and found that there are 3 known variants associated with cancer. MUTYH is a DNA repair gene and variants in the gene might predispose to, primarily, colon, breast, or non-small cell lung cancer. Your variant does not appear to be associated with cancer, hence, the benign connotation. They likely checked you for the variants associated with cancer and you were negative.

Dx at 62: Oncotype=52; Path (ER=99%, PR=0%, Ki67=55%) Dx 10/2017, DCIS/IDC, Left, 1cm, Stage IA, Grade 3, 0/5 nodes, ER+/PR-, HER2- Surgery 11/14/2017 Mastectomy; Mastectomy (Left) Chemotherapy 12/1/2018 Cytoxan (cyclophosphamide), Taxotere (docetaxel) Hormonal Therapy Aromasin (exemestane)
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Feb 6, 2019 08:03AM dakrock wrote:

Murfy

Thank you so much.  I could not understand anything on the report and the counselor talked so fast that I was confused.  She almost seemed excited that she had found something.  I've never seen her that animated.   Well this sound better to me.  Hope you are well

Bonnie Dx 12/4/2017, ILC, Right, 2cm, Stage IA, Grade 2, ER+/PR+, HER2- Hormonal Therapy 12/5/2017 Femara (letrozole) Surgery 2/23/2018 Mastectomy: Right; Reconstruction (right): Nipple reconstruction, Saline implant Hormonal Therapy Arimidex (anastrozole)
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Mar 28, 2019 09:20PM heykylee wrote:

Hi everyone, I'm Kylee, 23 years old. This week I got my Myriad results back and tested positive for NBN gene mutation. My mother and aunt are both survivors of cervical/ovarian cancer. No family history of breast cancer that I am aware of. I have dense breasts and unusual pain in my breats. I'm kind of at a loss of where to go from here. My OB mentioned that many women with this same gene mutation have BMX. But my question is, am I too young to even be considering this type of major surgery? I do not have children yet and don't want to short myself from the experience of breast feeding and such. However, I also don't want to put myself in a situation where I'm older and wish I would have taken more "extreme" preventable measures. I meet with my genetic counselor this coming week. I'm hoping this appointment may give me some clarity. Any thoughts or advice is greatly appreciated!

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Apr 12, 2019 04:26AM Yiyagf wrote:

I was diagnosed with bilateral breast cancer in Oct18. My maternal grandmother died of breast cancer age 45, so I was keen to have genetic testing done although my oncologist thought that the chance of a positive result was low given that my mum hasn't developed cancer. Turns out I have a BRCA2 mutation and my sister has now tested positive as well. I have already lost my breasts and ovaries but my biggest heartbreak is the possibility that my children may have inherited it. Hopefully medicine advances in the next 20 years and by the time my kids do their test and if it happens to be positive decisions on what to do next are not as radical as those I have to take.

Dx 10/31/2018, IDC, Right, 2cm, Stage IB, Grade 1, 0/4 nodes, ER+/PR+, HER2-, Chemotherapy 11/20/2018 Cytoxan (cyclophosphamide), Taxotere (docetaxel) Surgery 3/4/2019 Mastectomy: Left, Right; Reconstruction (left): Tissue expander placement; Reconstruction (right): Tissue expander placement
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Sep 2, 2019 09:37PM Yogatyme wrote:

I have a niece who went to a new Ob/Gyn when she moved to Atlanta. In reviewing family history and noting all the breast cancer on her dads side of the family, she recommended that my niece consider genetic testing. She was positive for BRCA1 and had prophylactic bmx & oophrectomy. The surgeon told my sister and me we needed to test as well. Bc there is no breast ca on our side we really didn’t think we would be positive. But, we were both positive as was our brother. We both had prophylactic oophrectomies earlier this year and opted to do close breast health monitoring. Mammogram and breast exam normal for me in Dec 2018 but abnormal MRI in June. Another mammogram in July was normal but US found same spots as MRI. Bilateral biopsies in July left breast benign but micropapillary in right breast. I had bmx in Aug. bc BRCA1 puts recurrence rate at 85% for both breasts. Stage 1 no metastasis. My sister planning to do prophylactic bmx after my dx. We are also of Scandinavian descent

My testing was free bc the lab my sister used (Invitae) offered free testing to family members if they tested within 90 days of my sister. My brother tested bc he has daughters and fortunately, the one who tested was negative. Our family had serious conversations and agreed that each person has to decide what is right for them.

Ultimately I’m am very grateful for the BRCA1 testing as my tumor was not seen on mammogram or exam so who knows how long before it would be picked up. I think this testing may have saved me from more serious treatments and maybe saved my life.

Yogatyme Surgery 3/3/2019 Prophylactic ovary removal Dx 7/19/2019, IDC: Papillary, Right, <1cm, Stage IA, Grade 2, 0/5 nodes, ER+/PR+, HER2- Surgery 8/13/2019 Mastectomy: Left, Right
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Sep 3, 2019 12:53AM alicebastable wrote:

I had a lumpectomy in July of 2018. Two days before, I had a non-contrast chest CT, which the oncologist ordered because I was a smoker at the time. It showed a 7cm growth on my kidney. So I had a lumpectomy in July, re-excision in August, and a nephrectomy for kidney cancer in September. Because I had previously had a hysterectomy for endometrial cancer, and treatment for multiple low-grade skin cancers, plus my Mom and paternal aunt had bc, and my maternal grandmother had uterine cancer, and my Dad had kidney cancer, my breast surgeon recommended genetic testing in January this year. My insurance would not pay for a really comprehensive panel, just the basics, and the results came back with no genetic causes.

Ignore treatment info (below) which is a BCO glitch. Do not enter personal information on this site since they grossly mishandled a data breach.
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Sep 3, 2019 09:47AM - edited Sep 5, 2019 07:51PM by Dottybird

This Post was deleted by Dottybird.

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