BRCA1 & BRCA2

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Postby SisMorphine » January 19th, 2011, 12:26 pm

A few years back my mother received an email from a family member with some basic info about the BRCA 1 & 2 gene mutations and testing. There had been a high incidence of breast cancer within her extended family, and they found out about the BRCA testing and the women in the extended family were all getting tested. It was the first we had heard of the testing.

My mother came back positive for one of the gene mutations. Myself and my sister went and got tested, and we both came back negative. We now are watching our mother get ready to go through her second fight with ovarian cancer (third fight with cancer, the first time it was Ewings Sarcoma). Most of my aunts (my mother comes from a family of 9, 7 of them women) have opted NOT to get tested. Personally I wanted to know because I wanted to do preventative procedures and be more on top of being tested so that I could catch any possible cancer early on. I think my aunts look at it more that if they get sick they get sick, but they don't want to spend their lives worrying about it if they do come back positive.

I know, I know, I'm just yammering away here. Mostly because we just found out yesterday that my mother's cancer is back. She hasn't even told her sisters yet.

But either way, I just wanted to share information about the gene mutations and the testing for anyone who may be interested in reading it and possibly getting tested. It IS a personal decision and they do recommend counseling pre and post results.

http://www.cancer.gov/cancertopics/factsheet/Risk/BRCA

BRCA1 and BRCA2: Cancer Risk and Genetic Testing
Key Points
BRCA1 and BRCA2 are human genes that belong to a class of genes known as tumor suppressors. Mutation of these genes has been linked to hereditary breast and ovarian cancer (see Question 1).
A woman's risk of developing breast and/or ovarian cancer is greatly increased if she inherits a deleterious (harmful) BRCA1 or BRCA2 mutation. Men with these mutations also have an increased risk of breast cancer. Both men and women who have harmful BRCA1 or BRCA2 mutations may be at increased risk of other cancers (see Question 2).
Genetic tests are available to check for BRCA1 and BRCA2 mutations. A blood sample is required for these tests, and genetic counseling is recommended before and after the tests (see Question 5).
If a harmful BRCA1 or BRCA2 mutation is found, several options are available to help a person manage their cancer risk (see Question 11).
Federal and state laws help ensure the privacy of a person’s genetic information and provide protection against discrimination in health insurance and employment practices (see Questions 14 and 15).
Many research studies are being conducted to find newer and better ways of detecting, treating, and preventing cancer in BRCA1 and BRCA2 mutation carriers. Additional studies are focused on improving genetic counseling methods and outcomes. Our knowledge in these areas is evolving rapidly (see Question 18).
"All changes, even the most longed for, have their melancholy; for what we leave behind us is a part of ourselves; we must die to one life before we can enter another." -Anatole France
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Postby mnp13 » January 19th, 2011, 12:29 pm

thank you for posting this. I hope your mom's treatments go well.
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Postby SisMorphine » January 19th, 2011, 12:32 pm

Thank you. She goes in a few weeks for updated scans, and then her oncologist recommended she apply for a study that's being done. I think "study" is just a nice word for "medical trial" :(
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Postby pitbullmamaliz » January 19th, 2011, 12:34 pm

Lots of good thoughts for your mom. That's scary. :-(

I've been told or read somewhere that you don't need to worry as much about tested unless an immediate family has breast/ovarian cancer. My grandmother and all of her sisters had breast cancer, but fortunately (knock on wood a whole lot) my mom and my sister are still okay. I'm still paranoid though.

How did you get tested? Through your general doctor, or your gyno, or did you have to go elsewhere?
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Postby SisMorphine » January 19th, 2011, 12:39 pm

pitbullmamaliz wrote:Lots of good thoughts for your mom. That's scary. :-(

I've been told or read somewhere that you don't need to worry as much about tested unless an immediate family has breast/ovarian cancer. My grandmother and all of her sisters had breast cancer, but fortunately (knock on wood a whole lot) my mom and my sister are still okay. I'm still paranoid though.

How did you get tested? Through your general doctor, or your gyno, or did you have to go elsewhere?

I went to a specialist within the hospital system to get it done.

My grandmother never had breast or ovarian cancer, and none of my mom's sisters have had it, but like I said her aunts and cousins did which is what made my mom get tested in the first place.
"All changes, even the most longed for, have their melancholy; for what we leave behind us is a part of ourselves; we must die to one life before we can enter another." -Anatole France
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Postby mnp13 » January 19th, 2011, 12:53 pm

SisMorphine wrote:Thank you. She goes in a few weeks for updated scans, and then her oncologist recommended she apply for a study that's being done. I think "study" is just a nice word for "medical trial" :(


Pretty much, yes, it is. However, some of those trials have amazing drugs that work very well and will not be available to the general public for years.
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Postby TinaMartin » January 19th, 2011, 1:27 pm

mnp13 wrote:
SisMorphine wrote:Thank you. She goes in a few weeks for updated scans, and then her oncologist recommended she apply for a study that's being done. I think "study" is just a nice word for "medical trial" :(


Pretty much, yes, it is. However, some of those trials have amazing drugs that work very well and will not be available to the general public for years.

Medical trials are a great option when other things dont work. I will keep you in my thoughts Sis!
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Postby Jenn » January 19th, 2011, 3:05 pm

Thank you from me too, I hadn't heard of anything like this and I'm going to read!

I'm sorry to read about your Mom, hon. :(
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Postby CinderDee » January 19th, 2011, 5:27 pm

I'm sorry to hear about your Mom, Alyssa. :( I'll keep you both in my thoughts. :hug3:
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Postby SisMorphine » January 19th, 2011, 6:08 pm

Thanks ladies.
"All changes, even the most longed for, have their melancholy; for what we leave behind us is a part of ourselves; we must die to one life before we can enter another." -Anatole France
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Postby iluvk9 » January 19th, 2011, 7:45 pm

Positive healing thoughts for Mom! If it was your Mom who passed the GENE FOR DETERMINATION on to you, she will be just fine!
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Postby ParisStreetPitCrew » January 19th, 2011, 10:30 pm

Sending good thoughts your way, Alyssa.
Thanks for the posting too.
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