Genetic Counseling

Spunkycowgirl25 · September 2011

Hi all, I'm new to the forum and am just getting my feet wet. I posted kind of an introduction yesterday, but just to recap:

I am 28 years old with a 7cm tumor in my right breast. I was scheduled for a lumpectomy earlier today but when I got there they decided they were only going to do a Core Needle Biopsy. When I asked why they said they didn't want to do surgery and go in until they got the pathology report back. My mass was found by accident while having a CT scan done two weeks ago for a different health problem, and they did a Fine Needle Aspiration that day. They told me that the FNA came back positive for cancer markers, but I really don't understand what that means. My ultra sound showed the mass had hypoechoic shadowing, and I have just a rudimentary understanding of what that means.

All the doctors I have seen or been examed by have all stated that they are concerned. I have 3-5 days to wait until the results come back, and that seems to be forever away.

My doctor has referred me for Genetic Counseling due to my family history. My mother had breast cancer with a radical masectomy when she was 22. My mother's grandmother died at age 58 from what we now know was breast cancer, although they didn't know it at the time. We found this out when we saw they listed "tumors of the breast" on her death certificate. My mother's aunt passed away at age 40 from breast cancer. And I just found out the other night that my dad's grandmother had breast cancer when she was in her 60s, was treated for it and went into remission and then died four years later of throat cancer. This is just the family history that we are absolutely sure of, there are some female members of my family on both sides that have an unknown cause of death. There have also been several different types of cancers that some family members on both sides have passed away from.

My oldest sister (I have 2 sisters, ages 35 and 37) who had the BRAC tests last year, and the results came back that she was not at risk. At this point with the tumor in my right breast and where I am at, it seems kind of pointless to have the genetic testing done, as obviously I have cancer. I am really new to everything, but I'm curious if anyone knows if there is a way for them to tell if my cancer is genetic or not?

Has anyone gone through Genetic Counseling? I would love to hear what to expect, as I had never heard of it before I started this ordeal. I have filled out my initial packet and am just waiting for them to call and schedule the appointment. I will be going to the University of Colorado hospital for the appointment.

Thanks!

PattySprout · September 2011

I had genetic counseling after surgery (bilateral mastectomy) and before chemo. I didn't get the results back until chemo was over. Totally valuable to me, even though I pretty much knew (once it was confirmed cancer) that I had a gene mutation and already acted accordingly (with the bilateral). In my opinion, it is very important for you - with your family history (mine isn't much better) - to TALK with a genetic counselor, even if you don't get the test done. There are OTHER cancer risks (besides breast) that you may have to think about IN THE FUTURE (specifically, ovarian). Additionally, if it is cancer, the test results may help you decide on surgery options.

I don't want to make things more confusing for you, but I want to add (which, likely the genetic counselor will tell you), that BRCA1 and 2 are just the gene mutations that are currently identified. There are many families with crazy family history like yours who have not have tested positive for these specific gene mutations. I am glad your sister tested negative (I wish my sister had the guts to do the test), but if nobody else in your family has been tested, she still is at an increased risk due to family history.

Also, by the way, how old is your mom? She sounds like a long time survivor. That is awesome! Congrats to her! (my mom is a 26 year breast and a 3 year ovarian cancer survivor)

Kelliregi · September 2011

I had Genetic counselling and BRAC testing done because of a lack of family history - my mom was adopted. My BS initially ordered my BRAC testing and my insurance said no. I was referred to a genetic counselor who wrote a letter to my insurance company and got it approved. The test can either be done with blood or cheek cells obtained with mouthwash and spit. As far as counselling, mine asked for a family tree of close relatives and if they had cancer. we also discussed what the BRAC test would and would not tell us.

I thought it was totally worth doing, as long as insurance will pay for it. I was lucky, mine came back negative.

Good luck with your journey, Spunkycow girl!!! You too PattySprout!!

Kelli

Spunkycowgirl25 · September 2011

Patty - My mother is 55, so she is a 33 year cancer survivor. Luckily she has never had a recurrence. The way she tells it is she was 22 with 2 kids and found a lump on a Tuesday morning (she found it herself). On Wednesday she had a fine needle aspiration and the doctor said he couldn't get any cells out and he said that automatically meant cancer. She went into surgery that Friday and and a radical masectomy and lymphectomy. That was in 1978 so obviously treatment was not near as advanced as it was today. I guess I should feel lucky that there are so much more options for me and not complain about having to wait for everything when the alternative is to find the lump and have a complete masectomy within four days. My mom is going with me to all my appointments and she is just amazed at how much more is offered. Because none of her lymph nodes had cancer in them she didn't have to go through radiation or chemo, and I really believe that the complete masectomy saved her life. Between looking online and talking to my mom I can understand why the survival rate has gone up from when she went through her cancer to today.

My middle sister (She is 35) had ovarian cancer at age 19, and has abnormal pap smears ever since. I was pretty young and don't remember all that they did, but I know she had surgery and radiation. They didn't take her ovaries though because she had my nephew 9 years ago. I will have to ask her exactly what they all did. My grandmother's sister (Great-Aunt) had ovarian cancer when she was in her 30s and they did a complete hysterectomy, that was in 1964, she is still alive today. So there is a pretty heavy cancer history on the female side of the family.

My paternal grandfather had esophageal cancer, was treated and in remission and then died a year later from bone cancer. My mother's paternal aunt died of brain cancer, my dad's maternal aunt died of lung cancer (She was a 40 year smoker), another of my dad's aunt died of liver cancer, and I know there is more but I can't remember them all. My doctor told me that being born female in my family was bad for my health

Thank you both for explaining the process and what to expect. I'm going to ask other than the BRAC tests I will ask if they are going to test other things as well. I filled out my family medical history and it took four pages, so they will have a lot of information to go through.

The packet said my appointment will be approximately four weeks out. Luckily my insurance (Kaiser) is covering it under the specialist co-pay. They had to send it out to the CU hospital since they don't offer it.

ratbait · September 2011

I'm so glad you are following through on the advice to get genetic counseling, it is very worthwhile.

Basically, you fill out a form detailing your family history, and based upon those results, the Genetist will recommend additional tests or screenings. In my case, she recommended a colonoscopy and that I be screened on a regular basis by a gyn onc.

It is a good idea to check the credentials of your counselor. There is a huge variability in the field, with some people having MDs, others masters in genetics and still others have only had a class of two...

Genetic Counseling

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