Why did you decide to do Genetic Testing? Postives? Negatives?

For my kids, especially my daughter who is 26. I had my initial BRCA and BART test thru Myriad, later I had another larger panel of 19 genes done by Color Genomics. Honestly, in a perfect world, I would have a mutation that my DD didn't have, and that might signal the end of the line for our familial breast cancer, but no mutations were found.

I had testing done for two reasons - I am adopted and have no access to family history and I have two children who would value the info, and my surgeon would not recommend a surgical approach until we knew that result, although he indicated I was a candidate for lumpectomy barring a positive genetic test result. I was BRCA negative, had already had an oophorectomy 9 years earlier, and elected bi-lateral mastectomy anyway due to imaging false negatives and multiple breast issues, mainly frequent and multiple cysts, over the previous 20 years. I ended up being node positive despite negative physical exam and negative imaging (my 2.6cm tumor didn't show up on mammography despite being very palpable), I had both high grade DCIS and high grade Her2+ IDC in the right breast with cancerization of lobules, and post-op pathology revealed both ADH and ALH in the "prophy" left breast. Despite extensive reconstruction issues due to non-healing I would make the mastectomy decision again.

I had testing (this panel) done after multiple doctors of mine kept 'gently insisting' so we could find out if my BMX was enough--I have a strong family history of BC, no ovarian or uterine cancer, just BC, and nobody has ever had genetic testing--or if we needed to start planning to remove my ovaries, tubes, and possibly uterus as well.

I held off on the testing until my BMX was over with just to avoid the possibility of my insurance company, who does not REQUIRE a positive BRCA test for a prophylactic BMX, changing their mind if the test came back negative, then I just kind of forgot to get it scheduled. I'd had the counselling appointment about a month before the BMX, and told her I'd get it scheduled soon and really just had it completely slip my mind.

After my gyno, the high risk specialist, my GP, and the PS got after me to get the testing done just to be sure, I finally got it scheduled; sample was sent in last week, and I should have my results in about 3 weeks.

I had the testing because both sides of my family are rife with cancers of all kinds, but especially breast, uterine, ovarian, and colon cancer. I was diagnosed with BC at the same age as my grandmother.  Two of my sisters have had uterine cancers and one of them also had pre-menopausal BC.  I felt like I just HAD to know, for my children's' and sisters' sakes.

Turns out that I have two gene mutations which cause BC, plus lung, uterine, ovarian, colon, thyroid, and pancreatic cancers. How does this affect my children? They both got tested. DS is negative for both; DD is positive for both. The genetics counselor estimated my risk pre-BC to be 45+%.  DD's risk is 58+%.  Although she is very upset to have this, she is not sorry to know.  DD has already begun breast surveillance (one aunt was 24 at diagnosis.) My 3 sisters are in the process of testing now.

As a result of my positive results, I elected to undergo BMX. I was not willing to wait around testing every 6 months, biopsying every lump and bump, and wondering when/if the cancer would come back. As my MO said, "Your breasts are going to try to kill you. Get rid of them. And the uterus & ovaries, too. Everything's got to go." I have done everything she recommended and I have no regrets.

I had my lumpectomy first. My BS didn’t think to ask about my ethnicity, just my family history (no breast, reproductive system, colorectal, pancreatic cancer; my dad’s sister died of esophageal—but she was a heavy drinker & smoker; his half-sister died of liver mets from melanoma). At 64, I was about average in age for first diagnosis. But I read in Susan Love’s Breast Book that any already-diagnosed patient with even one Ashkenazi Jewish grandparent should be tested for BRCA 1 & 2, regardless of family history or age at diagnosis. At my first MO appointment, I mentioned that I am Ashkenazi on both sides (all four grandparents); she agreed to refer me for genetic counseling (required before insurance will pay for testing), and agreed we should wait on setting up rads until the results were back—if positive, I would elect BMX & oophorectomy; and should I want reconstruction, it’s easier with non-radiated skin. Fortunately, I tested negative for both BRCA as well as PALB2 & Chek 2 mutations. Because of that, my son (only half-ethnically-Jewish) & sister didn’t have to be tested. So we went ahead with radiation.

I was tested for BRCA 1 and 2 after my first BC and tested negative. My MO at the time wanted me to have additional testing after my sister was diagnosis and I was not interested. 8 years later I was diagnosed with a recurrence and I did have additional testing - I decided on all the tests they had 33, 36 something like that. Turns out I have a gene for colon cancer. Not a major gene but still one that increases my chances. I've been putting off having another colonoscopy because I became very ill last time I had one. Now I made an appointment to have one and I will need one every three years plus my children will need one starting at age 40. I'm glad I had the testing done.

Strong family history on my maternal side meant I started having regular mammos at 30. When diagnosed with DCIS last spring, it was an easy decision to get the testing done. I tested negative....but my mom and her sister agreed to take the test, and both are positive for BRCA 1 and at a very high risk for ovarian and colon cancer. They have had their oophorectomy surgeries since, and cancer was found in my aunt's Fallopian tubes. She's currently going through chemo treatments. I like to think my family's BC history aided me in early detection, and my BC aided my mom and her sister in being proactive to take the genetics test they had been putting off - which ended up uncovering a cancer they were unaware of. Despite not testing positive, I still opted for the BMX. It's so tough to decide which route to take because there is no right answer. You just have to go with your gut and live with the decision. Best wishes!

I just have to jump in here.

Quick family history ...

My oldest sister (now 72) diagnosed at age 36; mastectomy & chemo; survivor. (but with some off the chart chemo brain even now)

That sister (Sandy) had 3 daughters. The middle daughter was BC diagnosed at age 36; too late, she died 4 years later, brain mets. She had the BRCA testing, was positive, encouraged all us aunts and sisters to do it; none of us did.

Five years ago I was diagnosed; IDC, lumpectomy, chemo, rads. Had the BRCA testing and several different versions of it; no mutations. None.

Four years ago Sandy's first daughter (Traci) was diagnosed with ovarian cancer. Hasn't been pretty but she is still with us. When her sister died 9 years ago, she not only didn't have the BRCA testing, but went 5 years with no mammogram, no pap smear ... never saw a doctor. She finally went to the hospital when she could not stand up due to the pain. The surgery they did to her then was horrific.

Traci's oldest daughter, 18 at the time, had the BRCA testing and she is positive. Traci's youngest daughter did not get tested yet.

Sandy's youngest daughter (#3) is BRCA negative, like me. Sandy also had testing, she is positive - and feels guilt because she passed it on to her daughters. Women never feel guilty enough, right?.

Got a family history on my dad's side from a cousin. Two generations back an aunt and all of her daughters died of breast cancer.

That being said, I was BRCA negative and still got cancer, a lucky 1 in 8 I guess.

Knowledge is power. Do you think if Traci had gotten tested and knew she was BRCA positive, after her mom, her sister and her aunt (me) all got cancer, she would have put her head in the sand and ignored her body? Maybe, maybe not. But her beautiful daughter knows she is, and she hopefully will be more mindful and listen to her body.

Get the test. It's free if you have family history. If you are negative, you know with relief you cannot pass it to your kids.

Hugs - Debbie

I just decided to have genetic testing two years after my diagnosis. All doctors told me that I will probably not be BRCA1 or two but I just needed to know because I would never be able to live with myself I have three girls. Just got the results back and everything came back negative although there was something which I'm really not sure what it means if anybody could share any info it would be greatly appreciated. I had a variant of uncertain significance -PALB2. what exactly does that mean?

Hi Leslie, sorry to hear you're going through this. Even though you are now having the testing anyway, one thing about BRCA+ in Ontario anyway is that it puts me in the high risk breast screening group which means MRIs as well as mammograms now. That might have been the ongoing plan for you anyway, but I didn't start getting breast MRIs until I tested positive for BRCA 2. I'm in a much smaller centre, Thunder Bay, don't know if that makes a difference either. Hope all goes well with your chemo. Hugs.

Hi everyone,

I have been wanting join one of these forums to tell other women in doubt about my luckily positive history so far.

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.

LOVELIFE

good luck, Leslie! I willfind out my results on Nov. 25th.

Just got the news that my sister tested negative for both BRCA and Lynch Syndrome. Yay! I am feeling optimistic.