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Old 05-28-2009, 09:37 PM   #3
Jackie07
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Join Date: Jan 2008
Location: "Love never fails."
Posts: 5,808
Here's a personal story related to genetic 'profiling':

Just got the result back fromt Myriad, the genetic testing lab referred by my health service provider.

Guess what? I have a genetic 'variant' of 'uncertain significance'

'Variants of this type may or may not affect the function of th protein encoded by the gene in which it is found. Therefore, the contribution of this variant to be relative risk of breast or ovarian cancer cannot be established solely from this analysis.'

Out of the thousands of samples the company had analyzed, there were only 36 observations of this variant in unrelated families:

Predominant ancestry of individuals with the variant:

2 African (4.3%)
2 Ashkenazi (4.3%)
21 Asian (45.7%)
2 Central/Eastern European (4.3%)
4 Latin American/Caribbean (8.7%)
1 Near Eastern (2.2%)
2 None Specified (4.3%)
5 Other (10.9%)
7 Western European (15.2%)

There's a notation on the report:

*In general, variants that are observed with deleterious mutations in the same gene, and/or do not consistently track with cancer in families, are more likely to be of limited clinical significance than they are to be deleterious.

The lab is offering 'free' analysis for 1)Either parents and/or 2)Any female relatives diagnosed with invasive breast cancer before 60, and/or 3) Any relative diagnosed with ovarian cancer or male breast cancer at any age.

I am not sure if they will be able to arrange the testing for my parents (age 94 and 86 respectively) who are living overseas. Both of my parents are quite healthy - no known chronic illnesses. My Mother had treatments for non-Hodgekins lymphoma 12 years ago and has been doing well since.

But this does strike me how close our bonds are in the HER2 family. Thank you, my sisters - I would never have thought about genetic testing had I not joined this group and gained the knowledge from you. And the discovery is indeed surprising.

*ps. The company asked me to 'call them to arrange for the testing of my relatives'. But my oncologist was telling me to wait for the new geneticist who's going to be on board in August/September.

I requested for the test because the irritating feeling in my abdominal area. I wanted to get rid of my ovaries and uterus. But the CT scan showed the 2+ cm and a new .4 cm 'hepatic hemangioma' in my liver. Guess I'll wait till the geneticist is on board to dicide on my action.

Q. My new job (start June 1) provides a 20/80 PPO type of insurance and I am afraid my future consult will be costly. I don't think I can keep my COBRA with the HMO [The health insurance company/Hospital where all my operation/treatment were done] once I am eligible for the insurance from the new job (does anyone know the answer?). And I am really worried that if I used my new insurance in that way, I'd lose my new job pretty soon. [Don't tell me that I am protected - I lost every one of my full-time, 'permanent' job a little more than a year after each one of my 'serious illnesses' had been treated.

[Note on 6/24: The 'job' has already been 'lost'. 10 days into work, I was called to the personnel office to sign a form related to my Texas Rehabilitation Commission Counselor - while several others were filling out forms related to the 'Welfare to Work' program. Another week later, I was let go. Glad I saw this old posting.]
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Jackie07
http://www.kevinmd.com/blog/2011/06/doctors-letter-patient-newly-diagnosed-cancer.html
http://www.asco.org/ASCOv2/MultiMedi...=114&trackID=2

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1-10-2020 8mm stable nodule on R Lung, two 6mm new ones on L Lung, a possible lymph node involvement in inter fissule.
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Last edited by Jackie07; 06-24-2009 at 06:45 AM..
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