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 11:16AM - edited Sep 23, 2015 08:15AM by moderators

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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Sep 23, 2021 05:50AM jenniferp73 wrote:


I was recently diagnosed with breast cancer. I did have genetic testing done. I wasn't thinking how doing this would effect me mentally. I was found to be positive for the CHEK2 mutation. No one in my family has ever had breast cancer, but there are lots of other cancers in my family. I am told CHEK2 is linked to breast, colon, and prostate. It is still being studied, apparently, and I am told they believe it is also linked to thyroid, kidney, pancreatic and leukemia. It's all extremely overwhelming for me. My daughter was 7 when she passed from leukemia, and my mind has been spinning since I found out these results.

I have horrible thyroid issues and have for about 20 years. I do see my specialist every 3 months.

I am wondering who else has the CHEK2 gene and did it change your treatment??

Thank you!

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Jun 17, 2022 05:21PM sandygsd wrote:

My oldest daughter, 52 found out recently she has breast cancer, has had a double mastectomy and is now starting chemo. She had the genetic testing done and was found positive for ATM genetic mutation.

I was just informed by my younger daughter - age 48 - she has done the genetic testing and has also been found to have the ATM genetic mutation. She has opted for a prophylactic mastectomy. Since she did not even tell me she was going to get tested it kind of threw me off guard but I can understand why she is doing it.

My parents and sister all died in 1988 -- well before any real cancer treatments or testing. My mom died at 72 of small cell lung cancer, dad at 73 of large cell lung /bone cancer. My sister died of brain cancer which had come from her lungs. Though this is pure surmising my dad and sister probably had ATM -- and since my mom had pre-cancerous cells she had a full hysterectomy back in the 60's there is a possibility her also. We had always felt it was environmental since we live in Cleveland with the steel mills etc. I am beginning to wonder if the ATM genetic mutation happens due to environmental issues but then who knows. I am just a person who likes answers --

I am personally struggling with 2 thoughts in addition to the health of my daughters- one is damn it I "gave" this to them. It came from my side of the family and though I had no way to stop it-- it has happened. Neither one of my kids has ever said anything -- just me personally.

Thought 2 is should I get tested. I am 72 -- had a hysterectomy back in the 70's which had zero to do with cancer-- took the uterus but left the ovaries. I will have to work this through. This forum is one of the more positive places in my life since most people around my are very negative-- I will keep reading comments-- thanks to all for being there.

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Jun 18, 2022 06:49AM cindyny wrote:

sandygsd- no easy answers. You probably gave your daughters a beautiful smile too. Don’t berate yourself over things you gave them that are out of your control. As to getting tested yourself, it’s a personal decision. Do the old pad of paper and list the pros and cons of testing. Best wishes to you

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 10/31/2017 Lumpectomy; Lumpectomy (Left); Lymph node removal Surgery 11/13/2017 Lumpectomy; Lumpectomy (Left) Radiation Therapy 12/26/2017 Whole breast: Breast Hormonal Therapy 3/1/2018 Arimidex (anastrozole)
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Jun 20, 2022 12:21PM odyssey305 wrote:

Hi Ladies. Thanks to everyone for sharing their stories! I’ve wondered about the genetic connection to BC, and like many of you, I feel sure that my mutation has played a role, though the research so far doesn’t agree. I have a heterozygous MUTYH mutation, which is linked to colon/gastric cancers, but other studies have also shown a slight increase risk in breast, endometrial and ovarian cancer. I also have another mutation of unknown significance so the jury is still out about that one.. The problem with the MUTYH mutation is that it only effects 1-2% of the population so the sample sizes in studies on cancer risk are very small and not reliable. The current screening guidelines only support more frequent colonoscopies for people with a 1st degree relative with colon cancer, but no additional screenings for the other cancers possibly linked to this mutation.

I don’t have a family history of cancer, but my BC was found at a yearly mammogram last year when I was 49 (I get mammos every year like clockwork and have never had any findings). Because of my age, my surgeon recommended genetic testing. Knowing that I have MUTYH, I recently opted to have my ovaries removed and a hysterectomy. My MO recommended this as a precaution and wants me to get a colonoscopy every 2-3 years, a way more aggressive approach than the national guidelines, but I was 100% on board. My husband also ordered the hereditary cancer panel, and was thankfully negative. I’ve told my kids about this mutation and will encourage them to get tested once they turn 18. I also told my brother, who plans on getting tested too.

Dx 12/2021, IDC, Right, 1cm, Stage IB, Grade 1, 1/5 nodes, ER+/PR+, HER2-, FISHISHCISH
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Jun 20, 2022 01:01PM - edited Jun 20, 2022 01:11PM by victoriasecret

I have LYNCH Syndrome . I was diagnosed with stage Stage 1 uterine cancer in 08 and then stage 3C Breast Cancer in 2009. Lynch also known as HNPCC - colon cancer gene . However it has a host of other cancers linked to it . I also had my Ampula of Vader removed a polyp found there during my yearly colonoscopy. I was told by a genetics team that Breast was not a part of this gene when I was diagnosed with uterine. My sister also had Breast and uterine... my mother who is now 94 has had ovarian, ureter( lost a kidney), bowel x 2 .

It was me that put 2 and 2 together that something was a miss when my diagnosis came other than family history . We were always very diligent about our colon tests starting at age 30. Dr googled my mother, sister and myself cancers and bingo off to testing.

Because I am Canadian we have amazing health care not one penny paid out of pocket for anything tests surgeries chemo, radiation , drugs etc.

Any other Lynch sisters out there ?

Dx 6/15/2009, ILC, 6cm+, Stage IIIC, Grade 2, 11/25 nodes, ER+/PR-, HER2- Surgery 7/30/2009 Lymph node removal; Lymph node removal (Left); Mastectomy; Mastectomy (Left); Mastectomy (Right); Prophylactic mastectomy; Prophylactic mastectomy (Right) Chemotherapy 8/30/2009 AC + T (Taxol) Radiation Therapy 12/31/2009 Breast, Lymph nodes Hormonal Therapy 12/31/2009 Arimidex (anastrozole)
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Jun 30, 2022 04:47PM ana_2022 wrote:

I have Lynch syndrome too( have 2 mutations MSH2 and MSH6. First was diagnosed with breast cancer DCIS, a year later endometrial stage 1 and last year breast cancer reccurance. I feel like its never gonna end. My father had 3 cancers (skin,kidney,stomach). He is 75 and still alive 🙏 the good thing immunotherapy should be working for us… and hopefully vaccines too..

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Sep 6, 2022 03:17PM kelhab wrote:

i see you mentioned ovary removal. Did your dr recommend this?

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Sep 6, 2022 06:16PM mavericksmom wrote:

I was tested for 54 genes (Inviteae Common Hereditary Cancers Panel and Invitae Myelodysplastic Syndrome/Leukemia Panel

No defects found BUT I was JUST DIAGNOSED WITH BREAST CANCER FOR A THIRD TIME! My mother, and two of my three sisters had breast cancer. My oldest sister had breast cancer and non-Hodgkins Lymphoma at the same time! She ended up with those in remission only to get MDS, which killed her! Also a maternal cousin had breast cancer.

I will FOREVER be angry at my breast surgeon for denying me a bilateral mastectomy in 2019 because I WAS NEGATIVE FOR BRCA gene defects! It isn't ONLY about the genes!!!! This was at a well-known cancer hospital affiliated with a major university in Philadelphia! I am so thankful to be back at my local hospital with doctors who value patient input!

Dx 6/6/2003, IDC, Left, 1cm, Stage IA, Grade 1, 0/24 nodes, ER+/PR+ Dx 12/4/2018, ILC, Left, 1cm, Grade 2, ER+/PR+, HER2-
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Sep 16, 2022 07:48PM swim wrote:

Wow! Thank you for sharing your story! I was diagnosed with IDC stage 1 s/p lumpectomy, left recently from a routine mammogram. No family history of cancer. My surgeon ordered genetic testing and we are confident that it will be negative. But, results came back positive for BRCA 2. I decided to not undergo radiation anymore and opted to plan a prophylactic bilateral mastectomy. I’m still waiting for the surgery schedule. I’m still not decided about the reconstructions. Part of me wants to do it but I am scared to have an implant. I’m not qualified for flap. I know it’s preference but I just don’t want to regret after. I will pray for it.

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Sep 17, 2022 08:54AM - edited Sep 23, 2022 09:20AM by kaynotrealname

I refuse to get broad panel testing despite a rather daunting family history because anxiety wise I don't think I can handle knowing I have something that is not what they consider "actionable". I mean what would I do with that knowledge except ruminate on it? But because my mother and her sister have been diagnosed with ovarian cancer along with a paternal aunt (and other relatives with cancer) I have went through testing for actionable ovarian cancer genes even before being diagnosed with breast. Nothing came up. My maternal aunt was diagnosed with ovarian cancer last year after I tested and finally we had someone actually with cancer go through some testing. She had a mutation with BARD1 and a BRCA1 VUS, neither of which is associated with ovarian cancer at this time. So no answers there and I tested negative for them anyway so it doesn't explain my recent breast cancer diagnosis either. Anyway I am now going through specific gene testing for breast cancer (ATM, CHECK2, and some syndromes) and we'll wait and see what comes up there. I should know within a couple of weeks. I'm nervous. I've already had a double mastectomy with my diagnosis and fallopean tubes removed a couple of years ago so the only other surgery regardless of results would be an oophorectomy/hysterectomy which I am considering anyway no matter what. But I'll hate to come up positive for the sake of my daughters. Plus I hate the idea of further monitoring for the other cancers associated with those genes. Sigh. Cancer. The gift that never stops giving.

Edit - my genetic testing for breast cancer specific genes also came up negative.

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