Genetic testing suitability?

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momoschki
momoschki Member Posts: 682

I had a consult with a new MO yesterday (old one died) and was a bit surprised/dismayed when she said she wanted me to do genetic testing. Nearly 5 years ago, I had a tiny focus of something (either DCIS, "borderline" DCIS -ADH, or pure ADH, depending on which hospital's pathologist you believe-- slides were analyzed 3 times!) removed by stereotactic biopsy. It was all removed by the needle biopsy-- subsequent excisional biopsy was clean.

I am Ashkenazi Jewish and my grandmother *might* have had ovarian cancer at 80. Doctors at the time were not really able to say conclusively, since the cancer was all over her pelvis and they were not sure where it originated.

Perhaps this new doctor is operating out of an abundance of caution, but this is freaking me out. My understanding is that they can now test for so many mutations that it is bound to turn up something ambiguous that no one will know how to really interpret. She also said if I come up BRCA+, it's goodbye to my ovaries. I'm 58, but I'd still like to hold on to my internal organs.

Anyone here had to grapple with something similar?


Comments

  • MelissaDallas
    MelissaDallas Member Posts: 7,268
    edited December 2015

    Man, at 58 I think I would have a hard time with it too. Counseling maybe, but unless the geneticist felt it was warranted, I'm not sure I'd want to. It sounds so unlikely that you are BRCA positive at your age & with your family history, and what if you find out you are positive for something you can't do anything about?

    The only reason at 50 (no kids) that I was glad to get tested was because both my dad's mom & sister had colorectal cancer & he grows big polyps fast. My internal med doc (resident) who was very young thought I might be at risk because of my ovarian cancer and LCIS, but the genetics doc said that the mucinous ovarian cancer I had was really not a "genetic syndrome" cancer and likely wasn't a risk factor.

  • Djabi53
    Djabi53 Member Posts: 184
    edited December 2015

    I would be confused too. I was/am confused by my genetic counseling-testing. After genetic counseling, I was told I had 0 probability of testing positive, but they wanted to test any way and do a few panels. I told them I was concerned about being able to manage my anxiety after the testing if they came up with something ambiguous but no way to treat it. I was told That if that happened, I would be offered evista. I agreed to the testing for brca 1and 2 and 3 other panels. Mine came back all 100% negative with no variants or questionables. I was enthusiastically congratulated by the oncologist and then immediately told I was still considered at increased risk, and offered evista. My risk is 15% lifetime risk to age 90. I do not have breast cancer. I haven't decided if I will take evista yet. I'm having trouble understanding why I am seeing an oncologist when I don't have bc. Family history is mother with bc mid 70's and doing fine. Maternal aunt died of bc postmenopause -also refused treatment. Cousin died of bc premenopausal.

  • momoschki
    momoschki Member Posts: 682
    edited December 2015

    Thanks for both your replies. Perhaps part of this is that oncologists just like to order genetic tests? Sometimes I wonder-- if mammography hadn't been sensitive enough to pick up the tiny something in my breast, I may well have been living happily and obliviously with no need for stressful things like oncologist appts and genetic testing. But then, I'll never know, will I?


  • MelissaDallas
    MelissaDallas Member Posts: 7,268
    edited December 2015

    I devoutly wish that my LCIS had not been found

  • Ddw79
    Ddw79 Member Posts: 533
    edited December 2015

    I had genetic testing twice. Nothing showed up. My friend just had genetic testing done ( also Ashkenazi Jewish) at 64. BRCA +. No cancer.... Ever. Amaxing! She just had an oophorectomy last week. I think the testing is a good idea

  • momoschki
    momoschki Member Posts: 682
    edited December 2015

    To give a brief update: apparently the results of the first portion of the panel are in (this is for the BRCA 1&2). I'm scurrying around trying to actually GET those results, since the dr who ordered them seems to be awol for the holidays. My follow up appt with her is not until mid-February and I don't think I can tolerate the anxiety until then.

    The second (more extensive) portion of the testing was not approved by my insurance and I'm inclined not to do it. The medical consultant I spoke with at Myriad said that given my history, it was very likely to turn up uncertain mutations about which no one would really be able to conclusively interpret. I never received any genetic counseling beforehand- I'm very angry about this.

    While I'm waiting and obsessing about the outcome of all this, I wonder-- have any of you had no family history and come up BRCA+ anyway? I've read that this is possible, especially in small families with few female members

  • Djabi53
    Djabi53 Member Posts: 184
    edited December 2015

    Hi momoschki- I am so sorry you are having to wait and wonder/worry. To answer your question, I met someone at a FORCE support group meeting who was dx with bc in mid 30's. No family history of bc. She tested positive for Brca. I met another woman whose mother had bc 30 years ago. Mother had mastectomy and chemo and was fine. No one else in family had bc. 30 years after her mastectomy and chemo, mother had a recurrence mid 60's and was tested. Mother tested positive. Her daughter, mid 30's was then tested and daughter also tested positive for brca. Daughter then had preventive hysterectomy. During hysterectomy they found she had early stage cancer in Fallopian tubes. If they had not both been tested which led to daughters hysterectomy, by the time they found the cancer in daughters Fallopian tubes, it would have been too late. I don't mean to scare you because they are probably rare cases, but wanted to pass them on in answer to your question. They were enough to encourage me to make my way thru the testing process. And I wanted to know for my daughters health also. They weren't sure if my insurance would pay for my extra panels. I was eligible for financial help if it didn't. I had 3 panels done and they all came back completely negative - no inconclusives. I have a mother, aunt, and cousin with bc. Prior to testing I was told that if 1 of the panels came back inconclusive (I forget which one) I would be eligible for an MRI. If others came back inconclusive, I would be eligible for evista. I was able to get a lot of information from FORCE which helped me navigate the system and understand the process. I have also asked questions to Johns Hopkins online breast cancer Ask an Expert - in the category of bc and family history. Their turn around in answering questions is quick. John Hopkins also has a webinar about genetic testing. I have the link if you are interested. I hope you can get your results very soon. After all of this including genetic testing, I remain at increased risk. I am here if I can support you in any way

  • Ramonica60
    Ramonica60 Member Posts: 23
    edited December 2015

    That is me, no family history of breast or ovarian. Sister participated in a study where they were subsidizing brca testing for Ashkenazi jews. She was in the low risk group due to lack of history, and came up brca +

    at that point my chances of having the mutation were 50-50 and I also learned I have the mutation. Neither of us ever had any breast or ovarian cancer. Both parents are deceased so we don't even know which parent we inherited this one.

    It was quite a shocker. Right now recovering from bilateral diep flap

  • Ddw79
    Ddw79 Member Posts: 533
    edited December 2015

    Momo that is too long to wait. I hope you get your results sooner. No mutations here after two rounds of testing and nothin inconclusive but I am about to start on Evista for ADH... If I can tolerate it.

  • mustlovepoodles
    mustlovepoodles Member Posts: 2,825
    edited December 2015

    I had genetic testing due to strong family history of several types of cancer, including breast cancers in 3 close relatives, all three prior to menopause. My genetics counselor advised me to have the 32-gene assay rather than just testing for the more common BRCA genes. So glad I did! Although I was negative for BRCA, I am positive for PALB2 and Chek2, both of which are implicated in breast, uterine, colon, lung, and pancreatic cancers, all of which are on *both* sides of the family within 1st & 2nd generations. My kids each have a 50% chance of inheriting one or both or neither of these genes. *PALB2 means Pathway And Locater of BRCA2. Therefore it is thought to convey some risk, especially in people who have strong family history of BC.

    My genetics counselor estimates my risk at 45%+. It has totally changed my course of treatment, from lumpectomy, radiation, AIs, and increased surveillance, to chemo, BMX, no rads, AIs, and oophorectomy, and possibly hysterectomy. Whew! But i'm not unhappy. I am glad to know my status. I have a 22yo daughter who is being tested now (the earliest BC in my family was in a 24yo aunt!) It will greatly relieve us all if we find out she's negative.

  • momoschki
    momoschki Member Posts: 682
    edited December 2015

    Thanks for all your replies. It's scary that this is now suddenly a possibility that I had never even considered for the past 5 years. Logically, I tell myself that it is highly improbable that I will come up positive, but then again, it's certainly not impossible. I'm working with Myriad for the results to be released to my PCP. Unfortunately, they told me this could take another week

  • momoschki
    momoschki Member Posts: 682
    edited January 2016

    Just to follow up: results of the BRCA 1/2 panel NEGATIVE! Huge relief. In my better judgment, I expected this to be the case, but you never know... after much arguing and back and forth, I got Myriad to release the results to my PCP. Follow up appt w the oncologist who ordered the test was not until mid-February and the anxiety was driving me crazy. Now I'm even wondering whether I should keep that appt. I'm concerned she will pressure me to do the more extensive "reflex" panel, which my insurance refused. I was not happy about the way she handled all of this.. Opinions? What would you do?

  • LisaAlissa
    LisaAlissa Member Posts: 1,092
    edited January 2016

    If she wants to pressure you to do it, tell her fine--as long as she's able to persuade your insurer to cover it. As I recall, Myriad is pretty good about not doing the testing until they get word you'll have coverage, if that's how you want it done.

    HTH

    LisaAlissa



  • ChiSandy
    ChiSandy Member Posts: 12,133
    edited January 2016

    I too am Ashkenazi on both sides. No family history of breast or ovarian cancer I knew of--but who knows who died of what back in the shtetl 3 generations or more ago (or what they’d have developed had Hitler not cut their lives short)? Mom was a 50-yr smoker, died of COPD/CHF at 85. Dad died of MI at 72. Maternal uncle of his first & only MI at 49, maternal aunt of Alzheimer’s at 90. Maternal grandma & her sisters all lived past 90, no reports of anything beyond heart attacks, strokes, dementia (they called it “senility” back then and thought it normal). But I do know that before the 2nd half of the 20th century, there were all sorts of euphemisms for female cancers--“Abdominal,” even “stomach” despite no GI involvement. Paternal grandma died young-ish (66) of her second MI, paternal grandpa of pnemonia at only 36. My kid sis is 62 & healthy, knock wood.

    Husband, a cardiologist, scoffed at the need for BRCA testing because of my age at diagnosis and lack of family history. But at my first meeting after surgery with the MO, when I told her I was Ashkenazi she immediately suggested genetic counseling & testing before starting radiation, since if I were to test positive I would have been advised to have a BMX and oophorectomy--and if I had begun radiation before that my reconstruction options would have been severely limited. I did get tested, and was negative for BRCA, PALB2 Chek 2, and any VUS. I had been advised that because of my ethnicity and the fact I had a bc dx, Federal law mandated coverage. But now my (now former) PPO is hinting it might deny coverage--presumably because I tested negative and they may think retroactively that it was unnecessary. I can afford the four grand, but it’s the principle of the thing--and I’m not going to pass up the chance to pound a stake through the heart of that venal bloodsucking insurance company (in honor of of those who can’t afford to pay for it), as my little parting gift to them now that I’m on Medicare with a supplement from a better company. So I’m getting my appeal ready just in case (attaching photocopies of excerpts from both Drs. Susan Love’s and Elisa Port's breast cancer “bibles” that said Ashkenazi heritage and a bc dx are absolute indications for genetic mutation testing).

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