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Genetic Testing for Cancer

soocool

Ideal_Rock
Joined
Jan 10, 2009
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2,827
My niece's aunt (her mom's younger sister) has breast cancer and underwent genetic testing . (Niece is by marriage - she is married to my nephew) They found a mutation in the BRCA gene. She presented this info to my niece's mother last week who is now in full panic mode and does not know what to do. She said that her insurance does not cover genetic testing and the test is quite expensive. She doesn't know if she should bother being tested since there is no other history of cancer in their family.

My own mother died from breast cancer 4 years ago, but she never underwent genetic testing and her 2 daughters (my sister and I) were never told we should be tested.

Has anyone had any experience with this genetic test or has a BRCA mutation?
 

DivaDiamond007

Brilliant_Rock
Joined
Jun 7, 2007
Messages
1,828
I've had some experience with genetic testing recently, although not the BRCA gene. I started having very heavy menstrual bleeding after my daughter was born in January and went to my OB/GYN to see what could be done. I mentioned to him that all of the women in my mother's family have had uterine cancer; except one - my Aunt Debbie, who had colon cancer. My mother also did not have uterine cancer but only because she had a hysterectomy. My doctor found this alarming and sent me to a geneticist to learn about Lynch Syndrome.

My insurance company also does not usually pay for testing and the blood tests for Lynch Syndrome average around $4000. I agreed to submit a claim first to see if it would be covered and it was denied. My OB/GYN insisted on re-submitting the claim, although I've discussed with him that at this point the tests would be moot. I needed a hysterectomy and got one. The chances of me having Lynch Syndrome are quite high based on the computer model the geneticist used and there is a 50% chance that I would pass the gene on to each of my children.

Here's the thing though - while the information may be useful in preventing cancer in my children, there isn't much that can be done now because my children are very young - my son is 3 and daughter 8 months. I'm also not sure if I really want to know. We're all going to die from something whether it be cancer, a car accident or stroke. The only things I can do now to further reduce my risk of getting colon cancer are eating a healthy diet and getting routine colonoscopies (as in once a year).

Before consenting to testing meet with a geneticist and listen carefully to what they have to say. Also think about if you really really want to know if you're likely to get cancer.

FWIW my OB/GYN has also suggested I undergo BRCA analysis and I've declined.
 

sweetjettagirl04

Shiny_Rock
Joined
Nov 20, 2007
Messages
469
When my mom passed away from ovarian cancer, I talked to my OB/GYN about possible testing. She provided information about it, however she implied that it's not something that is necessary because she (my mom) was the first in my family to have this type of cancer.

My doctor was very forthcoming about her personal experience with being tested, and admitted that it is unnerving to know that she does have the BRCA defect, and now is considering her options of what she wants to do. I personally have decided against the testing, because that type of information is a ticking time bomb. I have decided to take other action - having children first, then a complete hysterectomy when *I* am ready, and hopefully before any problems arise.

I know a girl whose mother, grandmother, and aunt have all passed away from breast cancer. She underwent the testing, found that she had the defect, and now at 26 has had a double mastectomy as a precautionary measure, because it was only a matter of time based on other testing (and the family history) she had undergone that she would end up with breast cancer.

Her doctor is the best option, and will know her history. My doctor spoke very candidly with me and even stated if I did have the genetic mutation, it's not positive that I would end up with it. Too much knowledge can be a bad thing. If there was a strong family history, there would be a more definite reason to go through with it.

I agree with DD - make sure you really want to know first.

Edited to fix spelling....
 

Pandora II

Ideal_Rock
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Aug 3, 2006
Messages
9,613
I have a close friend whose mother, grandmother and both aunts died of breast-cancer and had the BRCA defect.

She was tested and tested positive - she chose to have a double mastectomy at 24 and has scans every 6 months to be sure (she's now 40).

My mother and maternal aunt both have had carcinoma in situ or the breast and my cousin died of aggressive breast-cancer last October at the age of 39. I saw a geneticist who said she didn't recommend testing for the BRCA defect as my cousin was my father's brother's child - more worrying apparently if it was my mother's sister's daughter - and my mother and aunt developed carcinoma in situ following the menopause, however I do have to start yearly mammograms from the age of 40 rather than the usual age of 50.

If there had been the risk of the BRCA gene then I would have chosen to be tested and would have done what my friend did for the sake of my family.
 

pancake

Brilliant_Rock
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Jan 7, 2010
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soocool, you need to set up an appointment with a geneticist and genetic counsellor to discuss this, ditto your niece's mother. Whilst the experiences of others are always useful and nice to read, you need counselling that is geared towards your family's specific clinical situation and your psychosocial circumstances. At the moment you don't have enough specific information to make informed choices, but you do have enough to cause a lot of anxiety... does that make sense?
 

soocool

Ideal_Rock
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Jan 10, 2009
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pancake|1315987613|3017167 said:
soocool, you need to set up an appointment with a geneticist and genetic counsellor to discuss this, ditto your niece's mother. Whilst the experiences of others are always useful and nice to read, you need counselling that is geared towards your family's specific clinical situation and your psychosocial circumstances. At the moment you don't have enough specific information to make informed choices, but you do have enough to cause a lot of anxiety... does that make sense?
Thank you pancake for your response and I passed this on to my niece so she can discuss with her mother.My niece and I are not blood relatives, but I will discuss the genetic test with my gynecologist at my next visit since my mom had breast cancer. I guess my sister and I were not recommended to see a geneticist possibly by the type of cancer my mom had (no other cancers on my mom or dad's side).
 

soocool

Ideal_Rock
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Jan 10, 2009
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Thanks everyone for your responses. I shared them with my niece who will then discuss with her mother and go from there.

I found a lump in my breast when I was in my 30s and had it removed and biopsied because I was planning on getting pregnant and did not want to live with the knowledge that the lump could be something more. It was a benign adenoma. Then in my late forties I got a breast biopsy because of microcalcifications in my left breast but all is ok. I check my breasts every month and get a yearly mammogram.

I agree with those who posted that they wouldn't want to know about any gene mutations that would have them live in constant fear of what could possibly happen unless there was a strong family history. I prefer to live a healthy lifestyle and make sure I get my yearly checkups and not ignoring any warning signs.
 

pancake

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Jan 7, 2010
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Ah, I understand your own situation better now. Genetic screening is not routinely recommended for relatives of breast Ca patients unless a) it occurred at a young age (usually <40) or b) there are multiple relatives who also had breast cancer at a relatively young age. I imagine that is why it was never mentioned to you.
 

chemgirl

Ideal_Rock
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Sep 16, 2009
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2,160
My mother, her sister, and their aunt are all breast cancer survivors. I asked my doctor about genetic testing, but he told me not to, and to just get mammograms every 6 months starting now. According to him, some insurance companies will drop clients or raise premiums for clients with positive genetic testing. He also said it would make it nearly impossible to get life insurance.

Just something to look in to before going forward.
 

Bunny007

Shiny_Rock
Joined
Feb 28, 2010
Messages
281
My mom has two sisters, one of which had breast cancer, which inspired the other two (my mom and Aunt A.) to have the BRCA1 test. My mom tested negative and Aunt A. tested positive. I was prepared to take the test as well, but that apparently wasn't necessary, since my mom tested negative (correct me if I'm wrong).

I don't know that anything came of it. I'm relieved to know my mom tested negative, and Aunt A. was explained certain measures she could take to prevent breast cancer (i.e., mastectomy or hysterectomy, I believe?), but this was about 5 years ago and I don't think she plans to undergo any preventative procedures. I'm not sure whether my Aunt regrets having the test or not.
 

sba771

Brilliant_Rock
Joined
Jun 1, 2008
Messages
887
DH's aunt and grandma died of breast cancer. His mother survived and has the BRCA gene and we know this. He has opted not to test for it because he is concerned that we don't know in the future if an insurance company would deny him coverage as it would be preexisting and make him higher risk.

We did talk about having our potential children screened. I was diagnosed with IF and my RE was leaning towards IVF so we discussed in that case testing the embryos for the mutation. At that point they would already have been screened for so much, why not add one more in order to give our kids a fighting chance, especially in the event that I had some genetic anomaly that would increase the risk. This was something we struggled with and in the end the choice was taken away from us since I got pregnant without help and we feel whatever will be will be in this case.
 

gemgirl

Ideal_Rock
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Feb 8, 2003
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pancake|1316000769|3017203 said:
Ah, I understand your own situation better now. Genetic screening is not routinely recommended for relatives of breast Ca patients unless a) it occurred at a young age (usually <40) or b) there are multiple relatives who also had breast cancer at a relatively young age. I imagine that is why it was never mentioned to you.
pancake is exactly right. I had to see a genetic counsellor for my precancerous polyposis in my colon and she did a complete assessment of both sides of my family tree before sending me for the blood draw for the appropriate genetic tests. I was concerned because my maternal Grandmother was diagnosed with a single tiny spot of colon cancer (termed in situ) when she was 87. I was surprised to find out that any relatives, even close ones, who are diagnosed with any of these major cancers after the age of 80- don't count (!) because they have already outlived the expected life span and, according to the American Cancer Society, that up to 80% of all people over 80 will be diagnosed with some type of cancer simply because of their advanced age and the breakdown of the body's defenses. I was surprised. So I crossed my Grandmother off of my list of concerns. Even though I was there for genetic testing for my colon, we reviewed my Mother's history as a breast cancer survivor. My Mom was 65 when diagnosed, was the only woman in my family on either side to ever have BC and had been walking around with that tumor in her breast for eight years because she didn't want to go back and have another mammogram because they were too painful for her. My sister forced her to go for free screening when our town had some sort of event, and long story short, she was diagnosed two weeks later with Stage II BC, had a surgery to remove the tumor, a second surgery to remove all of her lymph nodes and despite the fact that she had waited for so long, the cancer was localized to her left breast with no metz. A miracle. Then again, my Grandmother's colon cancer never left it's main site either, so the geneticist deduced that my Grandmother's family probably has strong defenses against metastisis.
Also, and these were two big factors in the genetic counsellor's assessment of risk factor as far as my Mom was concerned. My Mother's cancer was a rare form of "progesterone positive" cancer, having nothing to do with most women's estrogen positive cancer which I believe is a stronger strain, and....... my Mother has been morbidly obese (more than 100 lbs. over weight) for her whole life, pretty much since she was 12. So my Mother's obesity was enough to make her breast cancer, her problem, because all cancers will thrive in the presence of fat stores, a poor diet and a completely sedentary life styles. So I basically was deemed "risk free" of both cancers.

That whole explanation was to explain that none of this can be judged by lay people. Family histories *have* to be judged by genetic counsellors and even with the limited testing that's available to us, nothing is for sure. To prove that, I had all of the genetic testing done for the major types of polyposis conditions- FAP, AFAP, Lynch Syndrome and MYH associated MAP. All of my tests came back negative BUT I still had precancerous polyposis based on number and size. So the best thing to do is to find a doctor that you can have an open, comfortable line of communication with, meet with him multiple times if that's what it takes, get second and third opinions and make your decisions based on careful assessment and thought to your particular "individual" situation.

Even though all of my tests came back negative, if we hadn't taken the steps to treat my condition that we did, I would have had cancer by now. That opinion was confirmed by five different doctors in 2010. Genetic testing, while a valuable tool for some, is still in it's infancy.
 

MichelleCarmen

Super_Ideal_Rock
Joined
Feb 8, 2003
Messages
15,880
chemgirl|1316006560|3017250 said:
My mother, her sister, and their aunt are all breast cancer survivors. I asked my doctor about genetic testing, but he told me not to, and to just get mammograms every 6 months starting now. According to him, some insurance companies will drop clients or raise premiums for clients with positive genetic testing. He also said it would make it nearly impossible to get life insurance.

Just something to look in to before going forward.
Yeah, this is something I've thought of too. Both my parents had cancer and I developed gestational diabetes during both pregnancies and have avoided any insurance b/c of fear of being dropped from my life insur policy. My only option is to watch my blood sugar on my own to prevent being dumped by everyone (I won't ever forget that Michael Moore movie where a woman's insurance ditched her for having a yeast infection!).

Having a mammogram every 6 months sounds like the best plan. You're being proactive but in socially structured/"follow-the-rules" sort of way that won't raise any red flags!
 
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