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Topic: Share your story of Genetic Testing

Forum: Positive Genetic Test Results —

BRCA 1 & 2, ATM, BARD1, CDH1, CHEK2, MRE11A, NBN, p53, PALB2, PTEN, RAD50, RECQL, RINT1, and possibly MSH6 and PMS2 genes

Posted on: Sep 22, 2015 11:16AM - edited Sep 23, 2015 08:15AM 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

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Posts 91 - 101 (101 total)

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Sep 9, 2019 08:59PM - edited Sep 10, 2019 06:23AM by ShawnaB

What led you to doing the testing?

Was very pressured by my breast specialist who does my yearly screenings. Mom had trip neg at 42 and survived. Zero cancer in her family, and she tested negative for mutations. Nevertheless, my doctor still wanted me to test.

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

Negative for all BC mutations. Positive for heterogenous MUTYH. Doesn't chance my choices. Still continuing with my regular every-6-month BC screening based on family history and breast density. Will follow recommendations for colonoscopies, as already planned.

Was payment an issue? Paid cash, $300

How have you discussed these decisions with your family?

I let my sister know that I was having genetic testing and offered to share the results with her if you wants. I'll share with my kids eventually, but its not relevant at their ages.

What suggestions would you have for others?

ASK YOUR DOCTOR what he/she plans to test you for prior to submitting to genetic testing. My doctor, without my knowledge, checked for mutations in 81 different genes, most of which had nothing to do with BC, and some that, should I had been positive, have no actionable risk reductions. Make sure you are prepared for the implications of your results. Some doctors believe that everyone should know everything that they possibly can about their genetic mutations. Make sure you agree with them, before testing. Get some good genetic counseling on these issues before you decide to test, to evaluate what you do want to know, and what you don't.

Also, be aware that the technology to identify gene mutations seems to surpass the medical community's ability to interpret the meaning of those findings.

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Sep 9, 2019 10:30PM CindyNY wrote:

I met w a PA when my MO was out sick. She recommended I do the testing. PA lead me to believe I fully qualified, insurance on board.

I met with the woman in charge of the testing and she told me my insurance fights it all the way. But she believed I'd still qualify for some, she was used to fighting w my insurance company. I had my blood drawn, 5 vials, we made the follow-up 5 weeks out, to cover for denial and fight.

Results of a 27 genetic panel testing, all negative. I had mixed feelings - negatives BRCA 1 & 2, and I still had BC. So you're not home free on anything, you just don't have the gene mutations for known cancers.

Payments amounted to 3 copays, total $60 out of pocket.

I let my family & close friends know the results. Prior to testing I had to fill out a family history on both parents sides. In doing so I realized my father's 3 brothers and my dad all had heart issues. The uncle's had passed when I was a kid, too young to attend the first 2 funerals but I knew of their deaths. It wasn't until this family history paperwork that I realized this. Back when I started Anastrozole, I started seeing a cardiologist, and I'm scheduled for a "calcium score" CT of my heart on 10/2. I'll make sure to tell my Dr of my enlightenment on family history.

Suggestions for others - I'd say it's a mixed bag. Mine being all negative didn't give me any great jubilation. Had they come back with some positive results, as some friends have had, it just makes you more aware to be tested in those areas. Example - one friend had markers for colon & pancreatic cancers. Colon, you can increase your colonoscopy testing to yearly or more frequent if your Dr says so. But pancreatic, usually people don't know they have it until it's stage 4. Unsure how to look for it more carefully (there may be a way, I just don't know it). I believe she's sorry she had the testing.

After my blood draw, and during the 5 week wait, I did wonder what was I getting myself into. Did I really want to know....yes, but...a thousand buts.

dx at 58, no family history, onco = 19 Dx 10/6/2017, DCIS/IDC, Left, 1cm, Stage IA, Grade 2, 0/5 nodes, ER+/PR+, HER2- Surgery 11/1/2017 Lumpectomy: Left; Lymph node removal: Sentinel Surgery 11/13/2017 Lumpectomy: Left Radiation Therapy 12/26/2017 Whole-breast: Breast Hormonal Therapy 3/1/2018 Arimidex (anastrozole)
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Nov 13, 2019 08:30AM Brook3R wrote:

I'm a 38 year old female, 3 kids with no history of breast cancer on either side of my family. My father's side has many cases of pancreatic cancers, breast cancers in half cousins, my great grandmother died of ovarian cancer in her 80's.

What led you to doing the testing? My father's half sister was urged to have the testing for a BRCA gene mutation. Her test came back positive for BRCA2. It was recommended she tell all of her relatives to have the testing as well.

What were your results, and what choices have you made based on the findings? Although there was a high presence of different cancers on my father's side, my aunt and my father were half siblings leading me to believe my chances would be lower. Unfortunately, I tested positive for BRCA2 last year at the age of 37. I took my results to MD Anderson and began high risk testing while deciding if I wanted to take more preventative measures. In June of this year, I had both fallopian tubes removed and one ovary. Because of my age, my doctors didn't want me to go into menopause this early. I also enrolled in a trial that studies the removal of fallopian tubes in order to decrease the risk of ovarian cancer. I will go ahead and have the other ovary removed when given the clearance around age 45-50.

Was payment an issue? I think I paid $200-$300 for the testing, not an issue.

How have you discussed these decisions with your family? I've went back and forth on different treatment options. I immediately wanted to have everything removed, then decided against a preventative mastectomy and now am finally planning to go ahead with that surgery after the new year. My husband really wanted me to take away as much risk as possible, but I had to come to the conclusion on my own.

What suggestions would you have for others? Give yourself time to make decisions regarding permanent decisions. High risk testing is always available until you are ready to make a definite decision either way.

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Nov 13, 2019 08:55AM Moderators wrote:

Dear Brook3R,

Welcome and thank you so much for sharing your story. We are wishing you the best and a speedy recover after your mastectomy surgery. Keep us posted on how things go for you. We appreciate as do our members the time that you have taken to post your genetic testing experiences.

The Mods

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Nov 14, 2019 06:46PM Mominator wrote:

Welcome Brook3R: I'm glad you got your results and are proceeding cautiously. The Cancers caused by BRCA2 usually happen later in life, around menopause. Also, one of the studies I read, the ovarian cancer in BRCA2+ patients usually starts in the Fallopian tubes (ovaries and Fallopian tubes come from the same stem cells).

Since you're 38, you have some time to think about your options. And now that you know you're positive, you and your doctors will be able to screen early for breast and ovarian cancers.

Best wishes, Mominator

Mominator, BRCA2+, STK-11 VUS, wife, mom to 3 children of various special needs, musician, volunteer. My Mom dx DCIS age 62, ILC stage IIIA age 79; Mom just passed 2/28/18. My Grandmother died of ovarian cancer age 48. Friend to Lori M, died 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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Nov 16, 2019 08:16PM Jamlyn4 wrote:

What led you to doing the testing?

Family history of cancers. Mother and both of her sisters had breast cancer in their 40s. Mom had it in both breasts at different times. My maternal grandmother also had it and died by about 55 from complications. Maternal grandfather had prostate cancer as well as multiple cancers found after he passed from kidney issue.

I had one scare about 5 yrs ago of lump that was biopsied and found benign.

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

BRCA 1 mutation

Talked to doctor about extra screening. Plan so far is to alternate mammogram and MRI every 6 months. And have been referred to a High Risk Brest Clinic. Though that appt. isn't until July as that was earliest they had. Primary doc is very concerned about ovarian cancer risks so have been thinking about options there too.

Was payment an issue?

Will cost me about $180 after insurance.

How have you discussed these decisions with your family?

I'm a single gal so walking this path mostly alone. Parents and aunts know about test and have been supportive in decision to get it as well as willing to give advice of their experiences.

What suggestions would you have for others?

It's difficult knowledge to sit with and sort of feels like a ticking clock. Be mindful going in that you can't unknow the results once you have them and it may cause some sleepless nights. For me it was was worth it as docs haven't wanted to start mammos as I'm 39 (even with family history) and with this test I have been more empowered to advocate for better screening.

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Nov 27, 2019 06:36PM jess1965 wrote:

Dear Simone, I am a 5 year BC survivor (mastectomy left; stage 2B). After learning that my sister (uterine and ovarian cancers) and 1st cousin (breast cancer) both tested positive for VUS genes, my oncologist had me undergo more extensive genetic testing to plan out the next 5 years of treatment etc. I just found out that I have a pathogentic ATM mutation. I am waiting to meet with my oncologist and genetic counselor---but my first instinct is that I want a prophylactic mastectomy; having read your story I wonder about BSO and hysterectomy. Do you have links for any of the research that suggests link to uterine cancer, ovarian, etc? That would be great. Hope you are still doing well.

Dx 6/12/2014, IDC, 2cm, Stage IIB, Grade 2, 2/21 nodes, ER+/PR+, HER2- Surgery 7/15/2014 Lymph node removal: Left, Underarm/Axillary; Mastectomy: Left; Reconstruction (left): Tissue expander placement Chemotherapy 8/14/2014 Adriamycin (doxorubicin), Cytoxan (cyclophosphamide), Taxotere (docetaxel) Dx 2/21 nodes
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Nov 27, 2019 08:45PM - edited Nov 27, 2019 09:24PM by SimoneRC

Hi Jess1965!

Dang! Just tried to post link. Google “Dr. David Euhus ATM" Article is “A New Trio Of Genes Enters The Risk Assessment Equation In Hereditary Breast Cancer."

This article is authored by my BS. My genetic counselor at JHH stated the link to ovarian. My genetic testing results for my ATM mutation lists ovarian.

For uterine, my GYN Onc at JHH states she sees a link and my sister had uterine. I do not know that there are firm studies yet but my whole team and my insurance all were just fine with taking uterus along with ovaries and tubes. My GYN Onc says she prefers to take uterus in ATM'ers having BSO.

Being post menopausal, I was fine with everything being taken. Guessing by your name, we are close in age. I am 53 and active. The recovery is longer adding uterus to BSO but I am hoping that a few extra weeks of downtime can help lead me to a long and healthy life.

Reach out anytime! Take good care!

Edited to add... my MO was strongly in favor of BSO as ovarian cancer has poor screening and poor prognosis. Being post menopausal and ER+, he recommended taking ovaries and tubes. With my sister’s uterine cancer diagnosis, all MD’s recommended adding uterus.



ATM Gene Mutation, Deletion. IDC w/Lobular Features and Focal Mucinous Features. Pre Pectoral Reconstruction. Hysterectomy Surgery 4/6/2018 Mastectomy: Left, Right; Reconstruction (left): Tissue expander placement; Reconstruction (right): Tissue expander placement Hormonal Therapy 5/5/2018 Arimidex (anastrozole) Surgery 7/3/2018 Reconstruction (left): Silicone implant; Reconstruction (right): Silicone implant Surgery 4/29/2019 Reconstruction (left): Silicone implant; Reconstruction (right): Silicone implant Surgery 4/29/2019 Prophylactic ovary removal Surgery 8/5/2019 Reconstruction (left): Fat grafting; Reconstruction (right): Fat grafting
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Nov 28, 2019 03:49PM jess1965 wrote:

Thanks so much for this info, Simone. This is really helpful. I'll let everyone know how this all plays out. Wishing you good health and Happy Thanksgiving! Jess

Dx 6/12/2014, IDC, 2cm, Stage IIB, Grade 2, 2/21 nodes, ER+/PR+, HER2- Surgery 7/15/2014 Lymph node removal: Left, Underarm/Axillary; Mastectomy: Left; Reconstruction (left): Tissue expander placement Chemotherapy 8/14/2014 Adriamycin (doxorubicin), Cytoxan (cyclophosphamide), Taxotere (docetaxel) Dx 2/21 nodes
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Nov 28, 2019 03:57PM SimoneRC wrote:

All the best to you too, Jess1965!

ATM Gene Mutation, Deletion. IDC w/Lobular Features and Focal Mucinous Features. Pre Pectoral Reconstruction. Hysterectomy Surgery 4/6/2018 Mastectomy: Left, Right; Reconstruction (left): Tissue expander placement; Reconstruction (right): Tissue expander placement Hormonal Therapy 5/5/2018 Arimidex (anastrozole) Surgery 7/3/2018 Reconstruction (left): Silicone implant; Reconstruction (right): Silicone implant Surgery 4/29/2019 Reconstruction (left): Silicone implant; Reconstruction (right): Silicone implant Surgery 4/29/2019 Prophylactic ovary removal Surgery 8/5/2019 Reconstruction (left): Fat grafting; Reconstruction (right): Fat grafting
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23 hours ago - edited 23 hours ago 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, IDC, Left, 1cm, Stage IIA, Grade 1, 1/11 nodes, ER+/PR+, HER2- Dx 5/2014, DCIS, Grade 3 Surgery 7/31/2014 Lymph node removal: Left; Mastectomy: Left; Prophylactic mastectomy: Right; Reconstruction (left): Tissue expander placement; Reconstruction (right): Tissue expander placement Chemotherapy 10/2/2014 AC + T (Taxol) Radiation Therapy 1/26/2015 Breast, Lymph nodes Hormonal Therapy 3/9/2015 Tamoxifen pills (Nolvadex, Apo-Tamox, Tamofen, Tamone) Hormonal Therapy Arimidex (anastrozole)

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