Topic: Need to get tested???

Forum: Genetic Testing — ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, NBN, NF1, PALB2, PTEN, RAD51C, RAD51D, STK11, TP53, mismatch repair genes (MLH1, MSH2, MSH6, PMS2, EPCAM), and VUS (variants of unknown significance)

Posted on: May 24, 2010 11:41AM

Posted on: May 24, 2010 11:41AM

stef58 wrote:

Hello everyone, I had asking a question on whether to get the BRCA test done. Here is my situation. I was 50 when diagnosised with TDC 1.5 with 1 node. Had a left mastecomy,June 3, 2010, 4AC  DD 4 taxotere, and ER/PR +. On tamoxifin. I asked my mom and dad if there was any family history of BC. No, just an aunt that is 75 on my mom's side. This aunt told me over the weekend that her grandmother, 2 cousins died from BC. Also have alot of rare types of cancer in my cousins. A sarcoma, uterine caricoma. i was wondering if I should get tested after all the time has passed and everything is going good. All the current tests are fine, mammo good, etc. Any information would be sincerly appreciated. Thanks Dianne

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May 24, 2010 12:15PM GC1 wrote:

Hi stef58,

My suggestion would be to ask to be referred to a cancer genetics clinic/genetic counselor.  They would be able to look at your family history, both affected individuals and unaffected, to determine what is the risk of having a mutation in BRCA1 or BRCA2 and what are the pros and cons of testing.  

As well, breast cancer is associated with other more rare hereditary cancer conditions.  Since there are some rare cancers in your family, your family history might possibly be due to a genetic mutation in genes other than BRCA1/2.  Sarcomas and uterine cancers are not associated with mutations in BRCA1/2, so it would be good to have an expert review your entire family history to see if there is another condition that better fits your family's cancer history.

Glad to hear your treatment is going well!

  

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May 24, 2010 04:14PM Carlatap wrote:

I agree with GC1, stef58. I would ask for an appt. with a genetic counselor. At least with me, I was asked to fill out a form asking for cancer history of family starting with myself, my children, my siblings, parents and their siblings, and then grandparents. It asked for the ages of when they were diagnosed, what type of cancer, and their date of death if they had died. From that information, the counselor was able to determine the chances of my having a genetic mutation and whether I should be tested at all. 

I am happy to see that your tests have come back clear!

Carla  

Carla Dx 3/9/2009, IDC, 1cm, Stage I, Grade 3, 0/2 nodes, ER-/PR-, HER2-
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May 24, 2010 05:35PM stef58 wrote:

Thanks for the info. Where do you find a genetic counsler.

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May 24, 2010 07:26PM GC1 wrote:

If you go to www.nsgc.org, there is a find a counselor feature where you can put in your zip code to find a counselor near you.

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May 25, 2010 02:11PM kt57 wrote:

Dianne,

I was 51 when I was diagnosed.   My mother and a paternal aunt had bc.  Not alot of other cancer in the family.    The genetic counselor recommended I be tested because of my age, not history.  She considered 51 to be "young" for sporadic bc,   Most info I read doesn't suggest testing after 50, but now that I tested BRCA2 positive, I wish more, actually everyone, with later onset bc be tested.    It is more difficult to accurately determine my future risk, as most studies are geared toward younger women.  

I agree with everyone here - a certified genetic counselor is your next step.

Good Luck.

Kathy Dx 11/11/2008, IDC, Left, <1cm, Grade 3, 0/4 nodes, ER+/PR+, HER2-,
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May 25, 2010 05:49PM Mutd wrote:

Many BRCA2 breast cancers are after the age of 50, and ER/PR+.

+1 about seeking a Genetic Counselor's advice.

There is a useful mental exercise to do on your own, too. It is to try to imagine who else in the family would have to have the mutation, if there is one...

Like Kathy might have shared the BRCA2 mutation with her mother. It would make sense because the mother had breast cancer. Or she might have shared with the paternal aunt, then her father would have had it too. It also makes sense because the aunt had cancer, and the men with BRCA2 often grow old without cancer.

But Dianne's story would be different. If there is a mutation shared with her maternal aunt, then her mother got to have it too. And her mother doesn't have cancer in (probably) her 70s? It doesn't make sense. I mean it is possible to have a mutation and no cancer, but ... kind of unlikely.

A Genetic Counselor would do the same kind of imagine-this-imagine-that reasoning, but of course with more details and numbers, and using mathematical models to chart the risks.

Alas, with families getting smaller, with many women loosing touch with distant relatives or adopted or unwilling to talk about cancer, there may be too little even the GCs can do. Not enough information and nothing to be done about it.

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