Listing our BRCA mutations - maybe we can find matches
Comments
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BRCA2 9143delT
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What does deliterious mean? I am BRCA1 deliterious (sp?). It sounds awful...is it worse than other mutations?
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disneyphile - deleterious means "harmful" I believe that most reports will contain the word deleterious
Mine is BRCA 2 IVS4-12del5 (non-truncating)
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I just saw this video and thought I would share :
http://www.youtube.com/watch?v=_07TefeFzXw&feature=channel&list=UL0 -
Great information for those of us with young relatives who might have our gene mutation.
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My family's BRCA2 mutation is:
5358del4
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Hi
BRCA2. 2157delG0 -
BRCA2 S611x
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am pushing to have this test done from an extensive family history of cancer in general. planning on being the ground breaker for my Sisters, Son, Nieces, Nephews, Cousins, etc since it's all from Mom's side which the only side of the family that I have any.
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Hi Galsal, That is a good idea that you are pushing to know this information. My cousin was stage 4 ovarian and she told me about it and it allowed me to get regular BRCA "Previvor" monitoring, and an insurance paid Breast MRI which picked up my BC. I was glad that I caught it early and choose an immediate DIEP. I did not want the extra surgery of getting expanders and having to go back in to have the DIEP flap.
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thanks. we're still working on getting it done. insurance wants MD to pay for it upfront, without taking permitting it to go directly through my insurance. naturaly, MD doesn't want to do that. so they're going back and forth. at a friend's suggestion, I'll see if I can't get an assigned RN with my insurance's cancer program to advocate for me.
since I last wrote of this, have learned of more family cancer history. my Niece at 27 with Cervical Cancer, dx just recently; grandfather's and his seven siblings (only previously know of two with cancer) - four died of ovarian, colon, pancreas, leukemia cancers, and he had prostate. that makes five known consecutive generations of cancer, with three being colorectal and also three being breast/ovarian.
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Hi! My aunt just let me know I should be tested for BRCA1 IVS5-11T>G. Cancer is very predominant on my father's side of the family, and it was just uncovered as to why in the past couple of years. I was curious other than breast and ovarian cancer in females and breast and prostate cancer in males if you have discovered this mutation increases your risk for? Thanks so much!
July
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This is a great idea!! I've been looking for those who share the same mutation as my family.
Our family's is Ex13 ins 6kb. I was diagnosed with Uterine cancer at age 30 in 2011 and had a full hyster. I am now being closely monitored and fear that it has spread to my lungs. My mom died of breast cancer when I was 16 and her mom died when she was 20. The finding of this gene is saving so many lives and extending the lives of mothers, sisters and grandmothers. I am greatful to have this knowledge. My sister is also positive and had the preventative double mastectomy.
I saw that a couple of you have the same mutation as my family. It would be nice to talk if you're comfortable.
Richland, WA0 -
I was dx in Feb 2013 at the age of 32 so they immediately had me do a BRCA testing because of my young age at diagnosis. My result came back positive. I also have triple negative breast cancer. My mother had been diagnosed with Triple Negative Breast cancer two and half years prior to my diagnosis. She took the genetic testing at that time and it was negative. After my positive test result she had it redone. It again came back negative. We then took a look back four generations on my fathers side to find breast/ovarian cancer in the family. My dad was tested and he was positive. It is still quite a shock that my mom and I both have triple negative BC when I got the gene mutation from my dad. Let me know if you have this mutation as I would be interested in how it has affected your family.
BRCA1 1623del5 mutation
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Hi Jennifer. It appears my family has the same genetic mutation that you identified. I am the first one to get diagnosed in over 4 generations as it has passed through several males to this point and just got caught with me at age 32. Since you were diagnosed a couple years ago I'd love to hear anything you'd be willing to share that you learned with your BRCA1 1623del5 mutation.
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My family has the 3773delTT mutation of BRCA2. Anyone else?
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My husband (stage IV) has this same mutation. We were told by genetic counsellors that it was even more rare due to the double T. He has 5 sisters and at least one has tested positive (one tested negative).
We have 6 children (4 boys and 2 girls) but none have been tested (only 2 are of age).
Currently,my husband is stable having been on Tamoxifen for a year + and he is enjoying his life every day.
Please keep in contact Peggy and my best wishes and prayers to you and yours.
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BRCA2 sequencing K2013X (6265A>T) Deleterious
"The results of this analysis are consistent with the germline BRCA2 mutation K2013X, resulting in premature truncation of the BRCA2 protein at amino acid position 2013. Although the exact risk of breast and ovarian cancer conferred by this specific mutation has not been determined, studies of this type of mutation in high-risk families indicate that deleterious mutations in BRCA2 may confer as much as an 84% risk of breast cancer and a 27% risk of ovarian cancer by age 70 in women. Mutations in BRCA2 have been reported to confer a 12% risk of a second breast cancer within five years of the first, as well as a 16% risk of subsequent ovarian cancer." - Myriad Genetic Laboratories, Inc.
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Brac2 k1530x (4816a>t)
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Hi everyone,
Tonight was the first time logging into BCO since October of last year. I was diagnosed with Triple Negative and went through two lumpectomies and chemo in 2011. I was advised to do rads, but declined due to the horrendous side effects I still deal with from chemo. I found out in November 2012 that I am BRCA1+. No family history. I feel pretty sure I got it from my dad's side. He died of a very swift and aggressive cancer that was never biopsied. He came from a small Irish family. My MO now thinks my dad likely had pancreatic cancer based on the details I shared with her. My 19 year old daughter tested in December and she also has this mutation. I've learned a lot on the password protected mutation boards on FORCE. Now that I know my BRCA status, I will be going ahead with the PBMX and BSO as will my daughter, though she will wait on the BSO until she's a little older. As it turns out, my MO is saying it was good I refused rads because it would've made reconstruction so much more difficult.
Here's my mutation: IVS5-11T>G
Best Wishes to all!
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Hi
I have BRCA1 2800delAA. Like Miller1353 and Lois813. Would be interested in hearing from either, and others to see whether there is a family link.
Thanks
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Exon 13 ins 6 kb
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I just started a blog to connect members who have this mutation. I am new at blogging. I hope you will be patient with me. You may join me at tennislas1965.wordpress.com.
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My Mom's is: M1689R (5185T>G) BRCA1
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BRCA1 5385insC deleterious, age 33 at dx
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BRCA 1 c.2508G>T is the BIC nomenclature, but it is also reported as BRCA 1 c.2389G>T This feels like on line dating! Anyone else out there with this?0 -
Just found out last week I am brca 1 positive I am 25 years old just finishing my last chemo on Thursday . And also wondering whats all the numbers and letters ??
Is it a subcategory for brca?0 -
TasiaB: the numbers & letters are listing our specific mutations. You can find yours on your paper report from Myriad. You should have a copy!
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I'm BRCA2 Y3098X(9522C>G)
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Brca1 c.5266dupC
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