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, and mismatch repair genes (MLH1, MSH2, MSH6, PMS2, EPCAM)

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 Surgery 1/1/2022 Lumpectomy (Right); Lymph node removal (Right): Sentinel Surgery 1/29/2022 Lumpectomy; Lumpectomy (Right); Lymph node removal Hormonal Therapy 2/1/2022 Radiation Therapy 3/3/2022 Whole breast: Right breast Surgery 4/1/2022 Surgery Radiation Therapy Whole breast: Breast, Lymph nodes Hormonal Therapy Femara (letrozole), Zoladex (goserelin) Hormonal Therapy
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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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