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Topic: Share your story of Genetic Testing

Forum: Positive Genetic Test Results —

BRCA 1 & 2, ATM, CDH1, CHEK2, MRE11A, NBN, p53, PALB2, PTEN, RAD50, RECQL, and RINT1 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 31 - 50 (50 total)

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Mar 19, 2016 07:42PM - edited Mar 30, 2016 05:23PM by Lovinggrouches

I am diagnosed with stage 1 IDC at 41. I had my first mammogram ever after having pain in right chest and shoulder, they found the cancer in the left breast. The pain turned out to be partially torn rotator cuff, but I am blessed that I had that pain, or they may have found my cancer too late. They did genetic testing and found unknown variant of palb2. I have since found out that I have 5 females on my mom's side of the family that had breast cancer and they all survived it, only 1 was under 50 when diagnosed. No one else in the family has been tested yet. Only one of the women are still alive and she is a distant cousin that lives across the country. My oncologist didn't change my treatment plan because not enough is known yet, only that I have increased likelihood of breast and pancreatic cancer. Increased frisk of ovarian cancer related to this gene isn't known yet , especially with the unknown variants of this gene

+ PALB2 VUS. I can do all things through Christ who strengthens me! Oncotype score of 14 Dx 1/2016, IDC, Left, 1cm, Stage IA, Grade 1, 0/3 nodes, ER+/PR+, HER2- Surgery 2/23/2016 Lumpectomy Surgery 3/22/2016 Radiation Therapy 4/13/2016 Whole-breast: Breast Surgery 6/8/2016 Prophylactic ovary removal Hormonal Therapy 7/16/2016
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Mar 19, 2016 09:25PM - edited Mar 19, 2016 09:31PM by cajunqueen15

No breast cancer on either side of family. PGM died of ovarian cancer in late 50s or early 60s, but I thought she died in her 40s. My mistake prompted my OB to rec'd a mammorgram when I had nipple discharge 1 year post partum from the noncancerous breast (unrelated to the cancer). I had no lump. Suspicious calcifications prompted a stereotactic biopsy and a DCIS dx, grade 3 with comedonecrosis. And I knew in my heart there was more.

After the DCIS dx, genetic testing was rec'd and I was floored to discover am BRCA2+. Also that I had Stage IIa BC at age 35. My brother does not carry the mutation. My dad is cancer free at 66.

I am scheduled for a complete hysterectomy on 4/12 and was given a 4% chance of occult cancer or mets in that area as a result of the mutation. Also having a full skin cancer check for melanoma in June. I would have the surgeries 100 times over again to have avoided cancer and chemo/rads. But it's a very personal decision.

35 @ dx. BRCA2. Disciple, wife, mother of twins (3) & son (2), Attny. BMX 8/15. Chemo AC+T 9/15. Rads 2/16. Hysterectomy/Ooph, Arimidex, Afinitor (end 5/17) 4/16. Blue/MammaPrint, High risk Luminal-Type (B), Prolia 6/16. Half-Marathon 8/16, 9/16. Dx 7/22/2015, DCIS, Left, <1cm, Stage 0, Grade 3, ER+/PR+, HER2- Dx 8/28/2015, IDC, Left, 1cm, Stage IIA, Grade 3, 2/11 nodes, ER+/PR+, HER2-
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Apr 8, 2016 01:25PM NJ-Jen wrote:

I was diagnosed the bilateral IDC at 52. Extensive family history of cancer and breast cancer. I have poor health anyway with Cushing's disease and many endocrine, gynecolological and other issues.

Father, maternal uncle and cousin died of brain cancer. Grandfather had lung cancer. Paternal uncle CLL. Several maternal and paternal cousins breast cancer, and great grandmother had breast cancer. Another cousin had ovarian cancer.

Doctor opted for extensive test which all came back with no mutation just a couple of variations, of course noneof which had been noted before.

Right IDC, under 1cm, Stage IA, Grade 2, 0/1 nodes, ER+/PR+, HER2- (FISH) Left IDC, under 1cm, Stage IA, Grade 1, 0/1 nodes, ER+/PR-, HER2- (FISH)
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Apr 30, 2016 05:43AM Mahlee93 wrote:

I am 23 years old and live in Australia, I am due to be tested for BRCA-2 in two weeks time.

The gene has been passed down through my fathers side, he has several aunties and cousins who tested positive for the gene and have passed away mostly from ovarian and a couple with breast cancer. My father is one of eight children and his eldest sister tested positive for the gene, she had a hysterectomy many years ago but last year was diagnosed with breast cancer, she had treatment and a double mastectomy and is doing well. She and my father were the only children out of eight to test positive and I will soon find out if he has passed it on to me. I am quite anxious for the results but also looking forward to finding out either way.

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Apr 30, 2016 05:46AM Moderators wrote:

Welcome, Mahlee! We're sure it will be a weight off your shoulders to know either way. Please keep us posted on how things turn out!

--The Mods

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May 2, 2016 07:36PM - edited May 4, 2016 12:37PM by bosterh315

Hey there, my name is Heather and I am BRAC 1&2 positive for deleterious mutations. I had a rare and genetic ovarion cancer at the age of 23. After overcoming that trial I have been cancer free for 10 years now. I am now 33 years old, a wife, and a mother of 2 children and our wonderful cat. A couple of years ago I did some genetic testing that was recommended by my doctor because of my own and my families history. I got my results in February of this year and started the process of learning about being BRCA positive. I have, along with the support of my family, decided to have a bilateral mastectomy. My surgery date is May 19th. When it was first scheduled it was a ways off so I don't think about it much. Now it's coming fast and my anxiety is becoming more intense as the days melt away. I do so many things, mostly crafts, to keep my mind occupied and have started to realize that a big part of my animosity is the unknown. I'm not really sure what to expect before, during, and after my surgery. I have read an amazing amount of very useful articals and research regarding the breast cancer gene mutations, but feel more of a one on one and/or group atmosphere is much more personable and easiest for me to relate to. I would really appreciate some good info on what I have to look forward to so I can continue this journey with a positive attitude and more complete understanding. (and as little anxiety as possible but I'll survive without being granted this last one) ;) Thank you for any info, tips, stories you might share and thank you for being so strong, to all of you out there, who are dealing with this or have a friend or family member who is, or may even be combating worse. Every single one of you are my hero's. Keep shining girls (and guys)!!! Shine brighter than you ever have before. And please, please, any help you can offerwould be so greatly appreciated. Thank you from the bottom of my heart to yours.Nerdy

Live, love, laugh
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May 27, 2016 10:15AM - edited May 27, 2016 10:17AM by Tmh0921

I was diagnosed at age 27 in 1999. I was offered BRCA1 & BRCA2 testing, but because privacy and genetic discrimination laws weren't in place I declined.

On 5/2 of this year, I had a mammo and US for a new lump which turned out to be a cyst, but they found suspicious calcifications near my original tumor site. I was scheduled for needle biopsies and they also had a oncology nurse talk to me about genetic testing.

After a few rounds with insurance, and having genetic counseling, I had the Myriad 25 gene MyRisk panel screening. I was completely negative for any mutations.

My biopsy had mixed results - waiting on a wire localization excisional biopsy on 6/15 for final pathology. Right now I'm looking at epithilial atypia and atypical ductal hyperplasia with focal microcalcifications.


Dx with stage 1B IDC at 27 years old in 1999, Dx with ADH in 2016 Dx 12/7/1999, IDC, Left, 1cm, Stage IB, Grade 2, 0/14 nodes, ER+/PR+ Surgery 12/22/1999 Lumpectomy; Lymph node removal: Sentinel, Underarm/Axillary Hormonal Therapy 1/31/2000 Tamoxifen pills (Nolvadex, Apo-Tamox, Tamofen, Tamone) Radiation Therapy 1/31/2000 Whole-breast: Breast, Lymph nodes Hormonal Therapy 8/24/2016 Tamoxifen pills (Nolvadex, Apo-Tamox, Tamofen, Tamone)
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Sep 25, 2016 05:34AM Cwhitney wrote:

I was diagnosed with stage 1 er/pr+, her2 BC after an abnormal finding of calcifications from my mammogram. I am 42. I was lucky that my tumor was 6mm and no node involvement. I was shocked after living a healthy lifestyle and breast feeding 3 children for over one year for each. There is no breast or ovarian cancer in my family in both sides. My mom died of a rare lung disease called mesotheoma at 49. Due to this, I always thought cancer would get me since it got my mom so young. I tested positive for brca2. I was more than shocked. The only other person in my family that tested positive was a second cousin on my moms side who had stage 3 breast cancer at 32. Thankfully, she is a 6 year survivor. I will be getting my ovaries out after chemo. Since this just happened, I am hoping that my relatives will get this test for future generations.

Dx 5/6/2016, DCIS/IDC, Right, <1cm, Stage IA, Grade 3, 0/16 nodes, ER+/PR+, HER2+ (FISH) Surgery 5/17/2016 Lymph node removal: Sentinel; Mastectomy: Left, Right; Reconstruction (left): Tissue expander placement Targeted Therapy 7/10/2016 Herceptin (trastuzumab) Chemotherapy 7/10/2016 Taxotere (docetaxel)
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Oct 11, 2016 04:37PM Summermac wrote:


Newbie here! My name is Summer, I'm 28 years old. I had genetic testing done in early September just because of strong family history and some breast problems I had had towards the beginning of the year. I work at one of the leading Cancer Institutes in the World so it was easy for me to find a genetic counselor, thank goodness.

My results came back 09/27 positive for ATM genetic mutation. (I have the specific line mutation somewhere, just not with me). That was a whirlwind of a day, which turned into a whirlwind of a few weeks. I've met with multiple oncologists, our genetic counselor, general surgeon and then plastic surgeon. We did labs, diagnostic imaging, consults, etc. After much talk, anxiety, research and confusion I have decided, with my husband, to do a prophylactic double mastectomy with reconstruction. As a 28 year old, mother of a 4 year and 1 year old boys, I can't even begin to think about doing breast testing every 6 months and waking up every day with type of stress or anxiety, "is today the day?".

While I still hope to learn and be a part of ATM testing, I am confident and happy with my decision and hope to have it done by December.
I do find it important to mention that I have a strong family history of Breast Cancer and Pancreatic cancer, which both risks are increased due to ATM gene mutation. I also find it important to mention that the same general surgeon will be performing an excision and biopsy of a mass in my back/shoulder the end of this month which will do a muscle biopsy, so all of this is only on the table as long as everything comes back ok with that.

I look forward to hearing everyone's journey and having the support.

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Oct 11, 2016 04:52PM Summermac wrote:

Hi Heather!

I know your post is old! I hope you're doing well! Would be interested to hear your journey.


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Oct 11, 2016 06:25PM Moderators wrote:


Welcome! And thank you so much for sharing your story. We're so glad you've found us, and hope you find this community to be a source of support as you prepare and undergo your procedure!

The Mods

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Oct 18, 2016 01:21AM - edited Oct 18, 2016 01:22AM by MisLB

Hi all! I'm 41 and recently tested positive for BRCA2 mutation. I'm scheduled to see a gynecologic oncologist in a few weeks to begin the process of removing ovaries and fallopian tubes. Have pretty much decided to have double mastectomy, but not yet consulted a Dr. I'm sort of at a loss as where to begin. I'm from a small town and my gynecologist wasn't clear as to what the BRCA mutation even was, let alone fit to perform any type of surgery.... it's a bit overwhelming. The mutated gene was passed down by my dear Daddy who passed two and a half years ago from oral cancer. His sister, my aunt, was diagnosed at 47 with breast cancer. She was first to undergo testing a few months ago, after being encouraged by her doctor to do so. When she came back positive for BRCA 2, my other aunts were tested. Two negative, one more positive. The one who tested positive decided immediately to have double mastectomy. They removed her breasts within two weeks of receiving the positive BRCA2 mutation results. Breast tissue sent off, and much to everyone's surprise, she had cancer. She's now beginning a full year of chemotherapy. Thank God it has all worked out and praying she'll be ok! She has been on Tamoxifen for the last twelve years, and just had clear mammo six months prior. Would love to get some feedback on both surgeries I'll be undergoing. Right now, I'm most worried about my 19 year old daughter who will be tested this Friday. If her results come back negative, I can face anything that comes my way. If her results come back positive, things will feel very bleak... Thanks so much for listening!

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Oct 20, 2016 06:49PM jkbrca2 wrote:

MisLB, does your local hospital or cancer center have a "genetic counselor" who can guide you through next steps and where to begin? True, you can have the gynecologist perform the gene mutation test, but what does one do with this sort of information, right? If your daughter has a positive result (and I pray she doesn't) she is very young at 19 to digest that. I had a very tough time at 35 (anxiety, fear, grief) receiving the news I was BRCA2 positive. I was lucky I was already married with a child. I recommend seeing a genetic counselor who can really be an invaluable resource for referrals to oncologists, gynecological oncologists, breast surgeons, support groups, you name it. Your daughter may worry how soon she needs to have these surgeries and worry about marrying first, or having kids, or the choice to have kids. These are such difficult worries at only 19. A gene mutation can add tremendous pressure. Hopefully a genetic counselor is in your area for her to consult with to help sort out her feelings and concerns before AND after the results.
August 2011 tested BRCA2+ Surgery 7/9/2015 Prophylactic mastectomy: Left, Right
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Oct 23, 2016 05:25PM MisLB wrote:

Thanks for your reply, I appreciate it! I did see a genetic counselor, who performed the test. He was wonderful! Unfortunately, he's a few hours from me so referred me to my general gynecologist for referrals to surgeons, breast specialists, etc. My gynecologist had no idea what to do with BRCA positive information, zero. Very frustrating! Luckily I've secured appointments with a couple of very highly recommended specialists, and feel I'm in good hands. My 19 year old daughter! I, like you, understand the gut punch this positive result causes... I'd prefer my daughter not get tested for several more years. I have a cousin who has tested positive, who got breast cancer early 30's, so my daughter is recommended to get tested by age 25. I wish she'd wait until she's 25! I can't begin to imagine the fear she'll face if this comes back positive, and how it would feel to be on a "timeline" for when you better have your children so that you can then have a hysterectomy, so on and so forth. Makes me sick. I can only pray that she tests negative! Again, I appreciate your reply and concern! For my own personal health, I think what will weigh heaviest on my mind over the coming months is whether to have a preventive double mastectomy. Just a huge, overwhelming decision to make. (Would love to hear your story if you'd ever feel like sharing!) Thanks so much and take care!

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Nov 7, 2016 07:22AM LisaPinkRibbon wrote:

Hi everyone,

Will finally post my story here aswell since I guess it fits in quite well. I am hoping to be able to influence women's decisions and thereby maybe help them save their lives! This is a 100% positive story :-).

All started in 2006 when my 30-year-old sister (8 years older than me) suffered from breast cancer. Her young age, 2 sick cousins, 1 diseased aunt gave reason to think that we might have inherited the BRCA gene. Luckily, my sister had surgery (breast-sparing at first), radiotherapy and chemo and finally was cancer free.

Her whole experience and knowing more about the high risk of also falling sick at a very young age I decided to have a look at my options.

1. Find out whether I am positive, and if yes, think about next steps.

2. Don't get tested and just wait and fear!

Actually, it didn't take me a minute to decide what I wanted, and I was only 26 years old, just ending my university career. I wanted to know about my fate. How many people get the chance to find out about a live-threatening condition BEFORE anything happens? So I got tested, was positive and said to my doctor: " So what can I do about this?" His answer was prophylactic mastectomy. A little shocking at first but then I thought .. 90% risk of getting sick in the next couple of years and go through the same as my sister, or have this done, get beautiful breasts that will never hang :-), and reduce my risk to close to 0. My choice was made fast. Half a year later, after my university diploma I had DM with immediate reconstruction with silicon (2 reasons for that:1. I was too slim for using my own fat, 2: I didn't want any more than the two scares below my breasts.

I won't go into detail about the whole surgery, but I just tell you I NEVER regret being tested or taking the step of mastectomy. I know opinions differ, about whether or not it is necessary to remove (still) healthy tissue, but for me this was the only logic consequence.

After seeing the beautiful result, my sister soon decided to have the same thing done too and has been healthy for the past 12 years now, so ...

I hope this helps and please feel free to ask anything you would like to know about my experience.


Surgery Reconstruction (left): Silicone implant; Reconstruction (right): Silicone implant Surgery Prophylactic mastectomy: Left, Right; Reconstruction (left): Silicone implant; Reconstruction (right): Silicone implant
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Feb 22, 2017 06:21AM Rebamacfan123 wrote:

Well, I was born in South Korea and immigrated to the U.S. when I was 18.

When i was 13, mom was diagnosed w Graves. She was diagnosed w Ovarian Cancer when i was 25. About 10 yrs later breast cancer.

Me i was always conscious of moms history thought about the testing since i was about 30. Did not do anything about it because in my mind I knew the answer.

When i was about 43, had to remove throid due to goiter and 12 days before my 47th birthday, BAM as if atomic bomb on my breasts. Just had BMX done a week ago. Chemo and radition to follow. At a minimum i have to get partial hystrectomy done in the near future.

Now i am at a point, i want to know because i want to do anything preventive especially i am disfavored by health insurance anyway. Meeting w genetist and counselor was scary and interesting at the same time. Current hypothesis pending verification showed i may have cowdens which consists of thyroid, breast,ovarian,colon and kidney cancer risk. Things must have happen for a reason, at least i got thyroid cancer risk removed. Breast atomic bomb has been dropped. Hystrectomy outweighs side effects. I am going to demand colonscopy asap (pre scopy done 7yrs ago yielded multiple benign polyps)

The last coincidence is my niece has idential benign tumor at a same location like i had. One of the cowden hypo is benign fatty tumor.

Result will become available in a week. Some of me still do not want to know. I just have to remind myself preventive and proactive is what i need right now.

p.s. thank god i bought 2 mil USD of life insurance outside of my job before the atomic bomb

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Feb 24, 2017 11:24PM Lovinggrouches wrote:

for anyone interested, I'm taking part in research through the inherited cancer registry, I care. I signed up since they are teaming up with Mark Tischkowitz from PALB.com. to do this research for anyone with palb2 mutation

+ PALB2 VUS. I can do all things through Christ who strengthens me! Oncotype score of 14 Dx 1/2016, IDC, Left, 1cm, Stage IA, Grade 1, 0/3 nodes, ER+/PR+, HER2- Surgery 2/23/2016 Lumpectomy Surgery 3/22/2016 Radiation Therapy 4/13/2016 Whole-breast: Breast Surgery 6/8/2016 Prophylactic ovary removal Hormonal Therapy 7/16/2016
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Apr 20, 2017 02:23PM Mombiz4 wrote:

I'm new to this site and not sure if this is right place to post. I was scheduled to start radiation on Monday 4/24. Had gotten tattoos and markings the the RO asked me to come in for plan today and because I had 2 aunts with BC she said I qualified for BRAC testing. I've had stumbling blocks along my journey. From pre-cancerous to diagnosed at stage 1b. Then waited on oncotype test results , that came back low. I asked about mastectomy but both my surgeon and MO said wasn't necessary and lumpectomy and radiation was the recommendation since mine was so small and caught early and chance of reoccurrence was low. Do I have to do the Brac testing which would delay treatment. My lumpectomy was Feb 27. I'm just so ready to move on . I've put a call into my MO.

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Apr 20, 2017 02:58PM lekker wrote:

Whether or not you choose to undergo genetic counseling is totally up to you. Have you spoken with a Licensed Genetic Counselor? A LGC can go over your personal and family history and help you determine which, if any, tests would be appropriate for you. The LGC should also explain what your options are if your tests show a harmful mutation.

Colorectal carcinoma in situ January 2000 (age 30), and now this... Dx 7/2012, ILC, Right, 1cm, Stage IA, Grade 1, 0/2 nodes, ER+/PR+, HER2- Surgery 8/5/2012 Lumpectomy: Right Surgery 10/2/2012 Mastectomy: Right; Prophylactic mastectomy: Left; Reconstruction (left): Tissue expander placement; Reconstruction (right): Tissue expander placement Surgery 3/11/2013 Reconstruction (left); Reconstruction (right) Surgery 4/10/2013 Prophylactic ovary removal
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Apr 21, 2017 04:57AM - edited Apr 21, 2017 04:58AM by Mombiz4

Thanks Lekker. I will speak to my MO today. Just frustrated that each time I was asked about family history of breast cancer I told them I question why genetic testing wasn't discussed back then and now days before radiation is to start it'll be delayed. Been 2 months already since surgery.

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