Aunt was BRCA2 positive

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Windwalker
Windwalker Member Posts: 17
edited June 2014 in Genetic Testing

Hi there, I'm 40 years old and have just been diagnosed with stage 1 idc. My aunt had breast cancer and tested positive for brca2. My mom and I are on a wait list to get tested. (Canada) my mothers mom, grandma & great grandma all had ovarian cancer. She also had 4 cousins who had breast cancer and a uncle. How likely am I to have this mutation? Has anyone else been in this situation? My mom has had no signs of cancer. She just turned 63.

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  • DiveCat
    DiveCat Member Posts: 968
    edited March 2014

    Windwalker, 

    Did they give you an idea for the waitlist time? I am in Canada (also Alberta) too and it can take a while but that you have a diagnosis and the test results might affect your current and future decisions might speed it up. I was doing the full panel and traveled to Montana to pay out of pocket as the wait list can be so long (I was given an estimated 12+ month wait...but I do not have a cancer diagnosis)

    Well, if you were not affected I would have said they might want to test your mom before they think of testing you, as if SHE has the mutation you have a 50% chance of having it but if she did not you would have no chance of having it (it does not skip generations).  Since you are affected though, they probably won't care and will just test you for your aunt's mutation (and that will indicate whether your mother has it or not). It will probably be better if they test you first as you are the one with a diagnosis right now that might have a more urgent need to know.

    As your aunt has mutation, and I assume your mother and aunt have the same parents for these purposes, your mother herself has a 50% chance of having it, and so without knowing your mother's status, you would normally be told you have a 25% chance of having the same mutation your aunt has. Now, your earlier BC diagnosis may indicate a strong possibility you DO have the mutation (and if you have it, your mother has it...she would not really need to test for it), but it is also possible you are a sporadic case, or could have inherited a mutation from your father's side (which is not common, but is possible) and so do not have your aunt's mutation (which would mean your mother may or may not have it...50% chance of either)

    That your mother has not had signs of cancer is not necessarily indicative, as NOT everyone who has the mutation will get cancer (or early onset cancer). There are some families with mutations that have low-to-moderate penetrance.

  • BayouBabe
    BayouBabe Member Posts: 2,221
    edited March 2014

    Windwalker - if you haven't already found it, please check out www.facingourrisk.org (FORCE - Facing Our Risk of Cancer Empowered).  Lots of useful information for women who are BRCA + and / or have cancer risks in their family tree.  

  • LovieLovie
    LovieLovie Member Posts: 68
    edited March 2014

    Windwalker-  There may be a way to get the information quicker.  I was given the 'gene address' from my 1st cousin who was BRCA+ (she and 1 of her brothers were +). I sent this with my test.  I received the results back fairly quickly and opted to do a BMX.  My address was the same as hers and I was able to conclude that it was inherited thru my fathers side.  A good genetics counselor will recognize your strong family history of cancer.  Mine said she would be shocked if I wasn't BRCA+ as breast, ovarian, pancreatic & colon cancers are tied in as indicators (we have lots of those).

    There's a 50% chance to inherit BRCA, boy or girl.  There's an 85% chance of getting breast cancer if you are BRCA+.  Your mom may be the lucky 15% who don't get breast cancer in their lifetime.

    So sorry you are on this journey. 

  • DiveCat
    DiveCat Member Posts: 968
    edited March 2014

    Lovie...I imagine they WILL test first for the known mutation (single site test), the problem is in Canada things like even getting the referral appointment takes time. This is what OP is waiting for.

    Also, 85% is what they found in the original studied high penetrance families. I know the risk is often cited that way still in media and such, but they now know it is not that high on average, ans different mutations, whether it is BRCA1 or 2 and in those mutations themselves, affect different families differently....there are ranges anywhere from 35%-85% lifetime risk with averages around 60% but again, some families and mutations show lower penetrance).  I recall BRCA2 mutations have an average lifetime risk of BC closer to 50%.

  • DiveCat
    DiveCat Member Posts: 968
    edited March 2014

    Here, from cancer.gov:

    Breast cancer: About 12 percent of women in the general population will develop breast cancer sometime during their lives (4). By contrast, according to the most recent estimates, 55 to 65 percent of women who inherit a harmful BRCA1 mutation and around 45 percent of women who inherit a harmful BRCA2 mutation will develop breast cancer by age 70 years (5, 6).

    Ovarian cancer: About 1.4 percent of women in the general population will develop ovarian cancer sometime during their lives (4). By contrast, according to the most recent estimates, 39 percent of women who inherit a harmful BRCA1 mutation (5, 6) and 11 to 17 percent of women who inherit a harmful BRCA2 mutation will develop ovarian cancer by age 70 years (5, 6).

    It is important to note that these estimated percentages of lifetime risk are different from those available previously; the estimates have changed as more information has become available, and they may change again with additional research. No long-term general population studies have directly compared cancer risk in women who have and do not have a harmful BRCA1 or BRCA2mutation.

    It is also important to note that other characteristics of a particular woman can make her risk higher or lower than the average risks. These characteristics include her family history of breast, ovarian, and, possibly, other cancers; the specific mutation(s) she has inherited; and other risk factors, such as her reproductive history. However, none of these other factors is as strong as the effect of carrying a harmful BRCA1 or BRCA2 mutation.  

  • Windwalker
    Windwalker Member Posts: 17
    edited March 2014

    Thank-you for responses. They have given me a 3-6 month wait time. I do have the gene address for them to test. Wish it was a quicker process as I will have to have surgery before I get my results. *sigh*

  • DiveCat
    DiveCat Member Posts: 968
    edited March 2014

    Where in Alberta are you? Can you drive to US? If you really want to know sooner...I went to Benefis Cancer Centre in Great Falls, Montana for testing. The GC there, Betsy Smith, does free genetic counselling sessions. I was able to get in to see her within a week.  A single site test will run between $400-500 USD but you should have results in 1-2 weeks. I am not sure how long it might take to get single site results back up here.

  • Windwalker
    Windwalker Member Posts: 17
    edited March 2014

    I don't have a current passport

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